G2C::Proteomics

Characterisation of the proteome, diseases and evolution of the human postsynaptic density

Àlex Bayés1*, Louie N van de Lagemaat1*, Mark O Collins2, Mike DR Croning1, Ian R Whittle3, Jyoti S Choudhary2 and Seth GN Grant1

Author email: sg3@sanger.ac.uk * - These authors contributed equally to this work

  1. Genes to Cognition Programme, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK
  2. Proteomic Mass Spectrometry. The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, UK
  3. Division of Clinical Neuroscience, Edinburgh University, Edinburgh, UK

Overview

Synapses play a central role in behaviour and understanding mutations and phenotypes in synapse genes may shed light on evolution of human behaviour and its diseases. Although the molecular composition of human synapses is poorly understood, studies in animal models show postsynaptic proteins are organised into macromolecular complexes collectively known as the postsynaptic density (hPSD). Here we isolate 1461 hPSD proteins from human neocortex and find unexpectedly strong sequence conservation in the hPSD between present-day humans, other primates and rodent lineages spanning ~90 my. The most constrained proteins were hubs organising protein interactions in complexes. Human mutations in hPSD genes result in 133 neurological and psychiatric diseases. Phenotype analyses in humans and mice show a key role for the hPSD relative to other brain proteins in cognitive and motor functions. Subsets of hPSD proteins underlying specific disease phenotypes were identified providing potential therapeutic targets for multiple diseases. These data show postsynaptic complexes were constrained by natural selection during the last 90my and have a major role in brain disease.

Exact location of nine cortical samples obtained by biopsy and used for postsynaptic density isolation.

Exact location of nine cortical samples obtained by biopsy and used for postsynaptic density isolation.

FAQs

1. What is the postsynaptic density (PSD)?

The PSD is a subcellular structure of neuronal synapses, particularly of excitatory synapses. It was originally identified with electron microscopy as an electron-dense region below the postsynaptic membrane, hence its name. Proteomic studies of this structure have shown it contains several hundred different proteins including neurotransmitter receptors and many relevant molecules used to integrate and respond to synaptic input.

2. What was the experimental design?

Nine human cortical samples derived from neurosurgery were used in this study. Neuropathological examination revealed all tissue was normal. The nine fragments of tissue were pooled into three groups and postsynaptic density (hPSD) fractionation was performed for each group. hPSD fractions contain hundreds of proteins. To facilitate their detection by the mass spectrometer (MS) all samples were first separated by mass (using SDS-PAGE), proteins then fragmented into peptides, which were further separated by their hydrophobic profile (using reverse-phase liquid chromatography) and finally, injected into a the MS (LTQ FT Ultra hybrid mass spectrometer; Thermo Electron). The set of proteins identified in all three replicas was named as the consensus hPSD and was extensively analysed using bioinformatic tools.

3. What is proteomic mass spectrometry?

Mass spectrometry is a technique which measures molecular mass; if the molecules analyzed are proteins or peptides we talk about proteomic mass spectrometry. A mass spectrometer resolves the mass of a molecule by measuring the mass-to-charge ratio of its ions. Therefore ionizing proteins/peptides is essential to proteomic mass spectrometry. In a mixture of proteins of unknown composition the very accurate measure of its components mass will allow for their identification. Mass spectrometry can identify up to few thousands of proteins in complex mixtures.

A recent review of protemic methods including mass spectrometry is found in:

4. What is dN/dS?

If a nucleotide substitution in a given codon does not result in an amino acid substitution then is regarded as a synonymous or silent nucleotide substitution. If a nucleotide substitution alters a codon sequence sufficiently to alter the resulting amino acid then it is regarded as a non-synonymous substitution. Synonymous nucleotide substitutions are assumed to be neutral, because they do not alter the protein structure and therefore do not have a subsequent effect on the fitness of the organism.

For a given gene or set of genes it is possible to calculate all synonymous substitutions (represented by dS) and non-synonymous substitutions (represented by dN) that have occurred between two species considered. The ratio of dN to dS can be used as a measure of the type and degree of selection that a gene has undergone. For a given gene, if dN = dS then the gene is said to have evolved neutrally. If dN is significantly lower than dS than there is constraint against amino acid substitutions arguing for conservative, purifying selection. If dN is significantly greater than dS, then amino acid substitutions have come to prevalence in a particular lineage faster than would be expected by neutral evolution, arguing for positive Darwinian selection or adaptive evolution.

5. What is Online Mendelian Inheritance in Man (OMIM) Database?

OMIM is a database of human genes and phenotypes (http://omim.org/). It does contain information on all known mendelian disorders, focusing on the relationship between phenotype and genotype.

6. How are mammalian phenotypes identified?

Mammalian phenotypes have been derived from the database Mouse Genome Information (MGI). The phenotypic information obtained from spontaneous, induced, and genetically-engineered mutations is curated by MGI from the literature and introduced into a fixed nomenclature (or ontology) scheme which allows for comparison between mutants and bioinformatic analysis.

7. How are human phenotypes identified?

The human phenotypic data was retrieved from the Human Phenotype Ontology (HPO) database. HPO curated the phenotypic information contained in Online Mendelian Inheritance in Man (OMIM) database for monogenic diseases, and translated into a fix nomenclature (or ontology). OMIM phenotypic information is derived by searching the literature in which diseases are described and cases are reported. The nomenclature created by HPO does allow for comparison of phenotypes between genes or vice versa.

Data resources

Supplementary Table 1.
Information about biological samples.
Supplementary Table 2a.
hPSD protein identifications.
Supplementary Table 2b.
hPSD proteomic peptide data.
Supplementary Table 3.
Summary of OMIM diseases.
Supplementary Table 4.
OMIM diseases identified among total hPSD genes.
Supplementary Table 5a.
Summary of Human neural phenotype gene set enrichment analysis.
Supplementary Table 5b.
Full human neural phenotype gene set enrichment analysis.
Supplementary Table 5c.
Human Neural Phenotype gene set enrichment analysis.
Supplementary Table 6.
Brain datasets used in phenotype enrichment analysis
Supplementary Table 7a.
Summary of mammalian neural phenotype gene set enrichment analysis.
Supplementary Table 7b.
Full mammalian neural phenotype gene set enrichment analysis.
Supplementary Table 7c.
Mammalian Neural Phenotype gene set enrichment Analysis.
Supplementary Table 8.
Comparison of dN/dS between Genome and hPSD.
Supplementary Table 9.
Mouse and human datasets dN/dS analysis.
Supplementary Table 10.
dN/dS Values for genes expressed in human neurons classified by cellular component.
Supplementary Table 11.
dN/dS Values for hub, non-hub and TAP-PSD-95 proteins.
Supplementary Table 12.
Mouse to human dN/dS values in hPSD and other organelle proteomes.

Supplementary Table 1. Information about biological samples.

Patient code, age, sex, reason for surgery and precise location of samples used to isolate postsynaptic densities. The 9 samples were pooled into 3 groups, from which the hPSD components were separately isolated.

Individual Age Sex Reason for Surgery Precise Neocortical Location Used in
1 49 M Colloid cyst Central Anterior Frontal Neocortex 1stFractionation
2 43 M Glial neoplasm Medial Anterior Parietal Neocortex 1stFractionation
3 70 M Glial neoplasm Lateral Temporal Neocortex 1stFractionation
4 63 F Glial neoplasm Posterior Superior Frontal Neocortex 2ndFractionation
5 43 M Glial neoplasm Inferior Parietal Neocortex 2ndFractionation
6 26 F Lesional epilepsy Inferior Temporal Gyrus 2ndFractionation
7 59 M Glial neoplasm Inferior Temporal Gyrus 3rdFractionation
8 23 F Lesional epilepsy Inferior Temporal Gyrus 3rdFractionation
9 47 M Glial neoplasm Anterior Superior Frontal Neocortex 3rdFractionation
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In 6 cases the reason for surgery was a primary brain neoplasm (glioma), in 2 lesional epilepsy (caused by a choroid plexus papilloma and a dysembryoplastic neuroepithelial tumour), and one case of a colloid cyst causing obstructive hydrocephalus. The tissue used for proteomics was in all cases brain tissue removed in order to either access the affected region or perform resection.

In all cases prior written informed consent had been obtained, and the study approved by the local regional ethics committee (Lothian Region Ethics Committee /2004/4/16).

Supplementary Table 2a. hPSD protein identifications.

For each identified protein several identification (ID) numbers from biological databases are given: G2Cdb ID, Approved Gene Name from HUGO Genome Nomenclature Committee (HGNC), UniProt Accession, Ensembl Gene ID, HGNC ID, Entrez Gene ID, International Proteome Initiative (IPI) ID and OMIM Gene ID.

G2Cdb Approved Gene Name UniProt Acc Ensembl ID HGNC ID Entrez Gene ID IPI ID OMIM (Gene) ID
G00002130 AAK1 Q2M2I8 ENSG00000115977 HGNC:19679 22848 IPI00479760 -
AARS P49588 ENSG00000090861 HGNC:20 16 IPI00027442 601065
AASDHPPT Q9NRN7 ENSG00000149313 HGNC:14235 60496 IPI00250297 607756
G00001990 ABCB8 Q9NUT2 ENSG00000197150 HGNC:49 11194 IPI00019022 605464
ABCD1 P33897 ENSG00000214330 HGNC:61 215 IPI00291373 300371
G00001985 ABCD3 P28288 ENSG00000117528 HGNC:67 5825 IPI00002372 170995
ABCF3 Q9NUQ8 ENSG00000161204 HGNC:72 55324 IPI00465160 -
G00001845 ABI1 Q8IZP0 ENSG00000136754 HGNC:11320 10006 IPI00431033 603050
ABI2 Q9NYB9 ENSG00000138443 HGNC:24011 10152 IPI00442211 606442
G00001823 ABLIM1 Q5T6N5 ENSG00000099204 HGNC:78 3983 IPI00514685 602330
G00001848 ABLIM2 Q6H8Q1 ENSG00000163995 HGNC:19195 84448 IPI00479275 -
ABLIM3 O94929 ENSG00000173210 HGNC:29132 22885 IPI00185892 611305
ABR Q12979 ENSG00000159842 HGNC:81 29 IPI00030389 600365
ACAA1 P09110 ENSG00000060971 HGNC:82 30 IPI00012828 604054
G00002169 ACACA Q13085 ENSG00000132142 HGNC:84 31 IPI00011569 200350
G00001697 ACAT1 P24752 ENSG00000075239 HGNC:93 38 IPI00030363 607809
ACBD5 Q5T8D3 ENSG00000107897 HGNC:23338 91452 IPI00644427 -
G00001626 ACLY P53396 ENSG00000131473 HGNC:115 47 IPI00021290 108728
G00002185 ACO2 Q99798 ENSG00000100412 HGNC:118 50 IPI00017855 100850
ACOT7 O00154 ENSG00000205794 HGNC:24157 11332 IPI00219452 602587
ACOT8 O14734 ENSG00000101473 HGNC:15919 10005 IPI00298202 608123
ACP1 P24666 ENSG00000143727 HGNC:122 52 IPI00219861 171500
ACSL3 O95573 ENSG00000123983 HGNC:3570 2181 IPI00031397 602371
ACSL4 O60488 ENSG00000068366 HGNC:3571 2182 IPI00029737 300157
G00001630 ACSL6 Q9UKU0 ENSG00000164398 HGNC:16496 23305 IPI00296333 604443
Filter: 1461 entries 123...59TXTCSVXLS

Supplementary Table 2b. hPSD proteomic peptide data.

For each identified protein the number of total and uniquely identified peptides for each replicate is provided. Proteins found with two or more peptides in all replicates are classified as members of the consensus hPSD.

G2Cdb Approved Gene Name UniProt Acc Unambiguously Detected Total Number of unique peptides Unique peptides, 1st Replicate Unique peptides, 2nd Replicate Unique peptides, 3rd Replicate Consensus hPSD Shared peptides
G00002130 AAK1 Q2M2I8 YES 7 3 7 3 YES
AARS P49588 YES 12 7 12 6 YES
AASDHPPT Q9NRN7 YES 2 1 1
G00001990 ABCB8 Q9NUT2 YES 2 2 1
ABCD1 P33897 YES 3 3
G00001985 ABCD3 P28288 YES 6 4 3 5 YES
ABCF3 Q9NUQ8 YES 2 2
G00001845 ABI1 Q8IZP0 YES 5 3 5 4 YES
ABI2 Q9NYB9 YES 5 3 5 4 YES
G00001823 ABLIM1 Q5T6N5 YES 11 6 10 7 YES
G00001848 ABLIM2 Q6H8Q1 YES 6 4 5 1
ABLIM3 O94929 YES 2 2
ABR Q12979 YES 8 2 7 4 YES
ACAA1 P09110 YES 2 1 1
G00002169 ACACA Q13085 YES 2 2 1
G00001697 ACAT1 P24752 YES 7 4 7 1
ACBD5 Q5T8D3 YES 8 2 2 7 YES
G00001626 ACLY P53396 YES 15 8 15 8 YES
G00002185 ACO2 Q99798 YES 20 15 16 9 YES
ACOT7 O00154 YES 2 2 1 2
ACOT8 O14734 YES 3 2 1
ACP1 P24666 YES 4 2 3 4 YES
ACSL3 O95573 YES 5 5 2 2 YES
ACSL4 O60488 YES 3 2 2
G00001630 ACSL6 Q9UKU0 YES 6 4 3 3 YES
Filter: 1461 entries 123...59TXTCSVXLS

Supplementary Table 3. Summary of OMIM diseases.

Diseases identified in the total hPSD or the consensus hPSD were classified according to the system they affected: non Nervous System Disease, Peripheral Nervous System Diseases, Central Nervous System Diseases or affecting both the Peripheral and Central Nervous Systems.

Diseases manifested in the Central Nervous System (the sum of central only and peripheral and central) were classified in ICD-10 chapters. Diseases in the Chapter 'Diseases of the Nervous System' were further classified into their blocks. Finally, the number of proteins causing diseases of each group is shown.

Disease Classification Total hPSD Consensus hPSD
non-NS Disease 136 73
PNS Disease 29 16
CNS Disease 85 55
PNS & CNS Disease 19 11
All Diseases 133 82
All Diseases 269 155
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ICD-10 Chapters for CNS Diseases Total hPSD Consensus hPSD
Disease of the Nervous System 42 28
Endocrine, Nutritional and Metabolic Diseases 17 9
Congenital Malformations, Deformations and Chromosomal Abnormalities 10 7
Mental and Behavioural Disorders 7 5
No ICD-10 Correspondence 28 17
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ICD-10 Sub-Chapters for CNS Diseases in 'Disease of the Nervous System' Total hPSD Consensus hPSD
Episodic and Paroxysmal syndromes 13 8
Systemic atrophies primarily affecting the central nervous system 10 6
Cerebral palsy and other paralytic syndromes 8 6
Extrapyramidal and movement disorders 6 3
Other degenerative diseases of the nervous system 5 5
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hPSD Proteins Causing Disease Total hPSD Consensus hPSD
Proteins causing PNS Diseases 21 12
Proteins causing CNS Diseases 82 51
Proteins causing PNS & CNS Diseases 19 11
Proteins causing non-NS Diseases 98 53
All Proteins 199 110
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Supplementary Table 4. OMIM diseases identified among total hPSD genes.

For each protein causing an OMIM disease the following information is given: G2Cdb ID, Approved Human Gene Name, OMIM Disease ID and OMIM Disease Description, ICD-10 Chapter for CNS Disease and ICD-10 block for the for chapter 'Disease of the Nervous System' and Cellular Component Category. Also shown is whether it is present in the consensus hPSD (found in all three proteomic replicates), if it causes a Peripheral Nervous System Disease or a Central Nervous System Disease or a Peripheral and Central Nervous System Disease or a Non Nervous system Disease.

G2Cdb ID Approved Gene Symbol Consensus hPSD PNS Disease Only CNS Disease Only PNS & CNS Disease Non NS OMIM Entry Type OMIM Disease ID OMIM Disease Description Disease Age of Onset ICD-10 Chapter for CNS Disease ICD-10 Blocks for 'Diseases of the Nervous System'
ABCD1 YES # 300100 ADRENOLEUKODYSTROPHY; ALD Pre-Adolescence or Post-Adolescence Endocrine, nutritional and metabolic diseases
G00001985 ABCD3 YES YES + 170995 ZELLWEGER SYNDROME 2, INCLUDED; ZWS2, INCLUDED Pre-Adolescence Congenital malformations, deformations and chromosomal abnormalities
G00001697 ACAT1 YES # 203750 ALPHA-METHYLACETOACETIC ACIDURIA
ACSL4 YES # 300387 MENTAL RETARDATION, X-LINKED 63; MRX63 Pre-Adolescence Mental and behavioural disorders
ACTB YES YES # 607371 DYSTONIA, JUVENILE-ONSET Pre-Adolescence Diseases of the nervous system Extrapyramidal and movement disorders
G00001792 ACTN2 YES YES # 612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA
G00001793 ACTN4 YES YES # 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
AGL YES # 232400 GLYCOGEN STORAGE DISEASE III
AHCY YES + 180960 HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INCLUDED Pre-Adolescence Endocrine, nutritional and metabolic diseases
G00001692 AK1 YES YES # 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
ALDH2 YES YES # 610251 ALCOHOL SENSITIVITY, ACUTE
ALDH3A2 YES # 270200 SJOGREN-LARSSON SYNDROME; SLS Pre-Adolescence No ICD-10 Correspondance
ALDH4A1 YES # 239510 HYPERPROLINEMIA, TYPE II; HPII Post-Adolescence Endocrine, nutritional and metabolic diseases
ALDH5A1 YES # 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Pre-Adolescence Endocrine, nutritional and metabolic diseases
ALDH7A1 YES YES # 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Pre-Adolescence Diseases of the nervous system Episodic and Paroxysmal syndromes
G00002166 ALDOA YES YES # 611881 ALDOLASE A DEFICIENCY
G00001825 ANK2 YES YES # 600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
AP3B1 YES # 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
APC YES # 135290 DESMOID DISEASE, HEREDITARY
G00002273 APOE YES YES # 104310 ALZHEIMER DISEASE 2 Post-Adolescence Diseases of the nervous system Other degenerative diseases of the nervous system
G00002273 APOE YES YES # 611771 LIPOPROTEIN GLOMERULOPATHY; LPG
G00002273 APOE YES YES # 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
G00002273 APOE YES YES # 269600 SEA-BLUE HISTIOCYTE DISEASE
AQP1 YES # 110450 BLOOD GROUP--COLTON; CO
ARFGEF2 YES # 608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE Pre-Adolescence Congenital malformations, deformations and chromosomal abnormalities
Filter: 280 entries 123...12TXTCSVXLS

Supplementary Table 5a. Summary of human neural phenotype gene set enrichment analysis.

Human Phenotype Ontology (HPO) disease phenotypes that are overrepresented in the human PSD relative to the non-PSD subsets of: mouse brain, human cortical neuron and human astrocyte sets are shown. All are significant at p<0.05, fold changes marked with asterisks are highly significant, ** p < 0.01; *** p < 0.001.

Disease Phenotype Group Phenotype Subgroup hPSD Genes Neuron Mouse brain Astrocyte
General Neurological abnormality 80 2*** 1.7*** 1.6***
General Abnormality of the central nervous system 68 2*** 1.7*** 1.8***
General Abnormality of the peripheral nervous system 17 2.8** 2.8** 2.2**
Cognitive Mental retardation 40 1.8** 1.7** 1.8**
Motor Spasticity 20 2.1** 2 7.2***
Motor Muscle weakness 19 2.6** 2.1 1.7
Motor Nystagmus 17 2.8** 2.8** 3.1***
Motor Dystonia 13 4.3*** 3.2** 7.8***
Motor Gait disturbance 12 2.3 2.1 2.7**
Motor Diminished movement 11 2.3 2.5 4***
Neuropathy Peripheral neuropathy 11 2.1 2.9 2.2
Other Abnormal neurological laboratory findings 15 5*** 3.1** 5.4***
Other Abnormal myelination 12 4*** 2.8** 5.4***
Other Abnormal CSF findings 10 11.6*** 3.7** >20
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Supplementary Table 5b. Full human neural phenotype gene set enrichment analysis.

All phenotypes of neural origin from Human Phenotype Ontology (HPO) are included. For each HPO phenotype the HPO ID and description are given. The number of genes from the genome or the hPSD causing each phenotype is shown under the Genome and hPSD columns. Phenotype overrepresentation in the hPSD is with respect to the genome, and approved (HGNC) symbols for relevant hPSD genes are given. For each background dataset (mouse brain proteome, human cortical neuron transcriptome and human astrocyte transcriptome), number of phenotype genes present in the non-hPSD portion of the background dataset are listed in the Number of Genes column. Overrepresentation of phenotype genes in the background sets is computed relative to the genome in the column Overrep (dataset/genome). P-value of overrepresentation of the phenotype in the hPSD relative to the background set is denoted P-value (hPSD > Other) and is computed based on the observed overrepresentation in the hPSD and compared to the overrepresentation that would be observed if the hPSD were only as overrepresented in the particular phenotype as the background set. P-values were calculated using binomial statistics and corrected using the Benjamini-Hochberg false discovery rate procedure at alpha = 0.05.

  hPSD Non-PSD Mouse Brain Non-PSD Neuron Expressed (mRNA >3x median) Non-PSD Astrocyte Expressed (mRNA >3x median)  
View Genes HP ID HP Term Genes in Genome Number of Genes Overrep (vs. Genome) P-value (vs. Genome) Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Genes
View HP:0000707 Neurological abnormality 1004 80 2.2 0.000000004 211 1.3 0.0003 1.7 94 1.1 0.0000003 2.0 91 1.4 0.0004 1.6 ABCD3 ACTB ALDOA APOE ATIC ATP1A2 ATP1A3 ATP2A2 BIN1 CA2 CACNB4 CC2D1A CCT5 COX6B1 CRYAB CST3 DCTN1 DLAT DLD DNM2 ENO3 FLNA GABRA1 GDI1 GFAP GJA1 GLUD1 GNAS GNPAT GPHN GPI GSN HADHA HADHB HSD17B4 HSPB1 HSPD1 KIF21A KIF5A KRAS L1CAM LRPPRC MAOA MAPT MYH14 MYH9 MYO5A NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NEFL NME1 OGDH OPA1 PDHA1 PFKM PGK1 PHGDH PLP1 PRKAR1A PRKCG PTPN11 QDPR RAB3GAP2 RAB7A SEPT9 SLC25A22 SLC25A4 SPTBN2 SYN1 TPI1 TPM3 TUBA1A UBA1 UCHL1 VAPB VCP YWHAE
View HP:0002011 Abnormality of the central nervous system 811 68 2.3 0.000000007 181 1.4 0.0007 1.7 79 1.2 0.000002 2.0 69 1.3 0.00006 1.8 ABCD3 ACTB ALDOA APOE ATIC ATP1A2 ATP1A3 ATP2A2 CA2 CACNB4 CC2D1A CCT5 COX6B1 CST3 DCTN1 DLAT DLD DNM2 FLNA GABRA1 GDI1 GFAP GJA1 GLUD1 GNAS GNPAT GPHN GPI GSN HADHA HADHB HSD17B4 HSPB1 HSPD1 KIF5A KRAS L1CAM LRPPRC MAOA MAPT MYO5A NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NEFL NME1 PDHA1 PGK1 PHGDH PLP1 PRKAR1A PRKCG PTPN11 QDPR RAB3GAP2 RAB7A SLC25A22 SLC25A4 SPTBN2 SYN1 TPI1 TUBA1A UBA1 UCHL1 VCP YWHAE
View HP:0003129 Abnormal neurological laboratory findings 76 15 5.5 0.000002 22 1.8 0.002 3.1 7 1.1 0.000005 5.0 5 1.0 0.000002 5.4 APOE COX6B1 DLD GFAP HSPB1 LRPPRC NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 OPA1 PDHA1 PLP1 VAPB
View HP:0002490 Increased CSF lactate 24 9 10.5 0.000002 7 1.8 0.0003 5.8 1 0.5 0.00000002 20.9 0 0.0 0.008 n/a COX6B1 DLD LRPPRC NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 PDHA1
View HP:0001249 Mental retardation 439 40 2.6 0.000002 105 1.5 0.007 1.7 53 1.5 0.004 1.8 41 1.5 0.002 1.8 ABCD3 ACTB ALDOA ATIC ATP1A2 ATP2A2 CC2D1A COX6B1 DLAT DLD DNM2 FLNA GDI1 GJA1 GLUD1 GNAS GNPAT GPHN GPI HADHA HADHB HSD17B4 HSPD1 KRAS L1CAM LRPPRC MAOA NDUFA2 NDUFS3 NDUFS7 NEFL PDHA1 PGK1 PHGDH PLP1 PTPN11 RAB3GAP2 SYN1 TUBA1A YWHAE
View HP:0001332 Dystonia 68 13 5.4 0.00001 18 1.7 0.002 3.2 7 1.2 0.0001 4.3 3 0.7 0.0000003 7.8 ACTB ATP1A2 ATP1A3 DLAT DLD MAPT NDUFA2 NDUFS3 NDUFS7 PDHA1 PLP1 PRKCG VCP
View HP:0002921 Abnormal CSF findings 39 10 7.2 0.00001 12 1.9 0.002 3.7 2 0.6 0.0000004 11.6 0 0.0 0.02 n/a COX6B1 DLD GFAP LRPPRC NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 PDHA1
View HP:0001255 Psychomotor retardation 92 15 4.6 0.00001 32 2.2 0.02 2.1 10 1.3 0.0004 3.5 3 0.5 0.000000005 9.0 ACTB CC2D1A DLAT DLD HADHA HADHB HSD17B4 HSPD1 KRAS LRPPRC NDUFA2 NDUFS3 NDUFS7 PDHA1 PLP1
View HP:0001257 Spasticity 165 20 3.4 0.00002 45 1.7 0.01 2.0 22 1.6 0.008 2.1 5 0.5 0.000000001 7.2 CCT5 DLD GFAP GJA1 GPHN HSPD1 KIF5A L1CAM NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 PDHA1 PHGDH PLP1 QDPR SLC25A22 TUBA1A YWHAE
View HP:0001270 Motor retardation 182 21 3.2 0.00003 47 1.6 0.01 2.0 24 1.6 0.008 2.0 15 1.3 0.0007 2.5 ACTB CC2D1A COX6B1 DLAT DLD DNM2 FLNA HADHA HADHB HSD17B4 HSPD1 KRAS LRPPRC NDUFA2 NDUFS3 NDUFS7 NEFL PDHA1 PLP1 TUBA1A YWHAE
View HP:0002171 Gliosis 31 8 7.2 0.00008 9 1.8 0.006 4.0 0 0.0 0.001 n/a 1 0.5 0.000001 14.4 DLD HSD17B4 LRPPRC MAPT NDUFA2 NDUFS3 NDUFS7 PDHA1
View HP:0002520 Abnormal myelination 77 12 4.4 0.0001 19 1.5 0.008 2.8 7 1.1 0.0005 4.0 4 0.8 0.00002 5.4 DLD DNM2 GFAP HSD17B4 LRPPRC NDUFA2 NDUFS3 NDUFS7 NEFL PDHA1 PHGDH RAB7A
View HP:0000759 Abnormality of the peripheral nervous system 148 17 3.2 0.0002 27 1.1 0.002 2.8 14 1.1 0.001 2.8 14 1.5 0.007 2.2 CCT5 DCTN1 DNM2 GNAS GSN HSD17B4 HSPB1 HSPD1 KIF5A NEFL PFKM PGK1 PRKCG RAB7A SEPT9 SLC25A4 SPTBN2
View HP:0000639 Nystagmus 149 17 3.2 0.0002 27 1.1 0.002 2.8 14 1.1 0.001 2.8 10 1.0 0.0004 3.1 ATP1A2 DLAT DLD GNAS HSD17B4 HSPD1 NDUFA2 NDUFS1 NDUFS2 NDUFS3 NDUFS7 OPA1 PDHA1 PHGDH PLP1 PRKCG SPTBN2
View HP:0001324 Muscle weakness 184 19 2.9 0.0002 40 1.4 0.01 2.1 17 1.1 0.001 2.6 20 1.7 0.04 1.7 BIN1 COX6B1 CRYAB DCTN1 DNM2 ENO3 GPI GSN HADHA HADHB HSPB1 HSPD1 KIF5A NDUFS1 NDUFS2 PFKM PLP1 SLC25A4 VCP
View HP:0003381 Demyelination 48 9 5.2 0.0003 12 1.6 0.009 3.4 1 0.3 0.00000003 20.9 0 0.0 0.04 n/a DLD DNM2 GFAP LRPPRC NDUFA2 NDUFS3 NDUFS7 NEFL PDHA1
View HP:0002374 Diminished movement 72 11 4.3 0.0003 20 1.7 0.02 2.5 11 1.8 0.03 2.3 5 1.1 0.0007 4.0 COX6B1 DLAT GNAS GNPAT HADHA HADHB MAPT PDHA1 PGK1 PHGDH SLC25A4
View HP:0002450 Abnormality of the motor neurons 39 8 5.7 0.0003 4 0.6 0.0003 9.0 3 0.9 0.0005 6.2 3 1.2 0.001 4.8 CCT5 DCTN1 HSPB1 KIF5A MAPT NEFL RAB7A UBA1
View HP:0003202 Amyotrophy 108 13 3.4 0.0007 23 1.3 0.01 2.5 13 1.4 0.02 2.3 14 2.0 0.1 1.7 BIN1 CCT5 DCTN1 DNM2 GNAS HSPB1 NDUFS1 NDUFS2 NEFL PLP1 RAB7A SLC25A4 VCP
View HP:0000763 Sensory neuropathy 68 10 4.1 0.0007 11 1.0 0.002 4.1 7 1.2 0.006 3.3 8 1.8 0.03 2.2 CCT5 DNM2 HSPB1 HSPD1 KIF5A NEFL PRKCG RAB7A SLC25A4 SPTBN2
View HP:0003690 Limb muscle weakness 24 6 7.0 0.0007 6 1.6 0.01 4.5 3 1.5 0.008 4.7 2 1.3 0.003 5.4 DCTN1 HSPB1 HSPD1 KIF5A PLP1 SLC25A4
View HP:0000764 Axonal degeneration 29 6 5.8 0.002 6 1.3 0.01 4.5 5 2.1 0.05 2.8 3 1.6 0.01 3.6 CCT5 DNM2 HSPB1 NEFL RAB7A SEPT9
View HP:0002936 Distal sensory impairment 33 6 5.1 0.004 6 1.1 0.01 4.5 4 1.5 0.03 3.5 6 2.8 0.2 1.8 CCT5 DNM2 HSPB1 NEFL RAB7A SLC25A4
View HP:0009830 Peripheral neuropathy 102 11 3.0 0.004 17 1.0 0.01 2.9 12 1.4 0.04 2.1 9 1.4 0.03 2.2 CCT5 DNM2 GSN HSPB1 HSPD1 KIF5A NEFL PRKCG RAB7A SLC25A4 SPTBN2
View HP:0000716 Depression 34 6 4.9 0.004 9 1.7 0.05 3.0 4 1.4 0.02 3.5 1 0.5 0.0002 10.8 ATP1A3 MAPT PRKAR1A PRKCG SLC25A4 UCHL1
Filter: 115 entries 123...5TXTCSVXLS

Supplementary Table 5c. Human Neural Phenotype gene set enrichment analysis.

Shown are the genes reported in human studies to give rise to the nervous system phenotypes from the Human Phenotype Ontology (HPO).

Abnormality of the central nervous system (HP:0002011) 68 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
ACTB
actin, beta
ALDOA
aldolase A, fructose-bisphosphate
APOE
apolipoprotein E
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CA2
carbonic anhydrase II
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CC2D1A
coiled-coil and C2 domain containing 1A
CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CST3
cystatin C
DCTN1
dynactin 1
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
DNM2
dynamin 2
FLNA
filamin A, alpha
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GLUD1
glutamate dehydrogenase 1
GNAS
GNAS complex locus
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
GPI
glucose-6-phosphate isomerase
GSN
gelsolin
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LRPPRC
leucine-rich PPR-motif containing
MAOA
monoamine oxidase A
MAPT
microtubule-associated protein tau
MYO5A
myosin VA (heavy chain 12, myoxin)
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
NME1
non-metastatic cells 1, protein (NM23A) expressed in
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
PRKCG
protein kinase C, gamma
PTPN11
protein tyrosine phosphatase, non-receptor type 11
QDPR
quinoid dihydropteridine reductase
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A
RAB7A, member RAS oncogene family
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
SYN1
synapsin I
TPI1
triosephosphate isomerase 1
TUBA1A
tubulin, alpha 1a
UBA1
ubiquitin-like modifier activating enzyme 1
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP
valosin-containing protein
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal neurological laboratory findings (HP:0003129) 15 genes

APOE
apolipoprotein E
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLD
dihydrolipoamide dehydrogenase
GFAP
glial fibrillary acidic protein
HSPB1
heat shock 27kDa protein 1
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
OPA1
optic atrophy 1 (autosomal dominant)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1
VAPB
VAMP (vesicle-associated membrane protein)-associated protein B and C

Increased CSF lactate (HP:0002490) 9 genes

COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLD
dihydrolipoamide dehydrogenase
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Mental retardation (HP:0001249) 40 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
ACTB
actin, beta
ALDOA
aldolase A, fructose-bisphosphate
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CC2D1A
coiled-coil and C2 domain containing 1A
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
DNM2
dynamin 2
FLNA
filamin A, alpha
GDI1
GDP dissociation inhibitor 1
GJA1
gap junction protein, alpha 1, 43kDa
GLUD1
glutamate dehydrogenase 1
GNAS
GNAS complex locus
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
GPI
glucose-6-phosphate isomerase
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LRPPRC
leucine-rich PPR-motif containing
MAOA
monoamine oxidase A
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
SYN1
synapsin I
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Dystonia (HP:0001332) 13 genes

ACTB
actin, beta
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
MAPT
microtubule-associated protein tau
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
VCP
valosin-containing protein

Abnormal CSF findings (HP:0002921) 10 genes

COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLD
dihydrolipoamide dehydrogenase
GFAP
glial fibrillary acidic protein
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Psychomotor retardation (HP:0001255) 15 genes

ACTB
actin, beta
CC2D1A
coiled-coil and C2 domain containing 1A
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1

Spasticity (HP:0001257) 20 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DLD
dihydrolipoamide dehydrogenase
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GPHN
gephyrin
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
L1CAM
L1 cell adhesion molecule
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
QDPR
quinoid dihydropteridine reductase
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Motor retardation (HP:0001270) 21 gene

ACTB
actin, beta
CC2D1A
coiled-coil and C2 domain containing 1A
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
DNM2
dynamin 2
FLNA
filamin A, alpha
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Gliosis (HP:0002171) 8 genes

DLD
dihydrolipoamide dehydrogenase
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
LRPPRC
leucine-rich PPR-motif containing
MAPT
microtubule-associated protein tau
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Abnormal myelination (HP:0002520) 12 genes

DLD
dihydrolipoamide dehydrogenase
DNM2
dynamin 2
GFAP
glial fibrillary acidic protein
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
RAB7A
RAB7A, member RAS oncogene family

Abnormality of the peripheral nervous system (HP:0000759) 17 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DCTN1
dynactin 1
DNM2
dynamin 2
GNAS
GNAS complex locus
GSN
gelsolin
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NEFL
neurofilament, light polypeptide
PFKM
phosphofructokinase, muscle
PGK1
phosphoglycerate kinase 1
PRKCG
protein kinase C, gamma
RAB7A
RAB7A, member RAS oncogene family
SEPT9
septin 9
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2

Nystagmus (HP:0000639) 17 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
GNAS
GNAS complex locus
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
OPA1
optic atrophy 1 (autosomal dominant)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2

Muscle weakness (HP:0001324) 19 genes

BIN1
bridging integrator 1
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CRYAB
crystallin, alpha B
DCTN1
dynactin 1
DNM2
dynamin 2
ENO3
enolase 3 (beta, muscle)
GPI
glucose-6-phosphate isomerase
GSN
gelsolin
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PFKM
phosphofructokinase, muscle
PLP1
proteolipid protein 1
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
VCP
valosin-containing protein

Demyelination (HP:0003381) 9 genes

DLD
dihydrolipoamide dehydrogenase
DNM2
dynamin 2
GFAP
glial fibrillary acidic protein
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Diminished movement (HP:0002374) 11 gene

COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
GNAS
GNAS complex locus
GNPAT
glyceronephosphate O-acyltransferase
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
MAPT
microtubule-associated protein tau
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PHGDH
phosphoglycerate dehydrogenase
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Abnormality of the motor neurons (HP:0002450) 8 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DCTN1
dynactin 1
HSPB1
heat shock 27kDa protein 1
KIF5A
kinesin family member 5A
MAPT
microtubule-associated protein tau
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family
UBA1
ubiquitin-like modifier activating enzyme 1

Amyotrophy (HP:0003202) 13 genes

BIN1
bridging integrator 1
CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DCTN1
dynactin 1
DNM2
dynamin 2
GNAS
GNAS complex locus
HSPB1
heat shock 27kDa protein 1
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PLP1
proteolipid protein 1
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
VCP
valosin-containing protein

Sensory neuropathy (HP:0000763) 10 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NEFL
neurofilament, light polypeptide
PRKCG
protein kinase C, gamma
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2

Limb muscle weakness (HP:0003690) 6 genes

DCTN1
dynactin 1
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
PLP1
proteolipid protein 1
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Axonal degeneration (HP:0000764) 6 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family
SEPT9
septin 9

Distal sensory impairment (HP:0002936) 6 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Peripheral neuropathy (HP:0009830) 11 gene

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
GSN
gelsolin
HSPB1
heat shock 27kDa protein 1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NEFL
neurofilament, light polypeptide
PRKCG
protein kinase C, gamma
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2

Depression (HP:0000716) 6 genes

ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
MAPT
microtubule-associated protein tau
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Distal muscle weakness (HP:0002460) 5 genes

CRYAB
crystallin, alpha B
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
KIF5A
kinesin family member 5A
VCP
valosin-containing protein

Distal limb muscle atrophy due to peripheral neuropathy (HP:0002934) 5 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family

Gait disturbance (HP:0001288) 12 genes

ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
FLNA
filamin A, alpha
HSPB1
heat shock 27kDa protein 1
L1CAM
L1 cell adhesion molecule
MAPT
microtubule-associated protein tau
NEFL
neurofilament, light polypeptide
PRKCG
protein kinase C, gamma
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP
valosin-containing protein

Distal amyotrophy (HP:0003693) 6 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family
VCP
valosin-containing protein

Parkinsonism (HP:0001300) 5 genes

APOE
apolipoprotein E
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
MAPT
microtubule-associated protein tau
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Seizures (HP:0001250) 29 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLD
dihydrolipoamide dehydrogenase
FLNA
filamin A, alpha
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GFAP
glial fibrillary acidic protein
GLUD1
glutamate dehydrogenase 1
GNAS
GNAS complex locus
GPHN
gephyrin
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
L1CAM
L1 cell adhesion molecule
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SYN1
synapsin I
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Ataxia (HP:0001251) 20 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
LRPPRC
leucine-rich PPR-motif containing
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NME1
non-metastatic cells 1, protein (NM23A) expressed in
OPA1
optic atrophy 1 (autosomal dominant)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2

Muscular hypotonia (HP:0001252) 26 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
BIN1
bridging integrator 1
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
GNPAT
glyceronephosphate O-acyltransferase
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
LRPPRC
leucine-rich PPR-motif containing
MYO5A
myosin VA (heavy chain 12, myoxin)
NDUFA2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
OGDH
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1
QDPR
quinoid dihydropteridine reductase
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TPM3
tropomyosin 3
UBA1
ubiquitin-like modifier activating enzyme 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Hypokinesia (HP:0002375) 10 genes

COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DLAT
dihydrolipoamide S-acetyltransferase
GNAS
GNAS complex locus
GNPAT
glyceronephosphate O-acyltransferase
HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PHGDH
phosphoglycerate dehydrogenase
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Involuntary movements (HP:0001294) 14 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DLAT
dihydrolipoamide S-acetyltransferase
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GPHN
gephyrin
HSPB1
heat shock 27kDa protein 1
LRPPRC
leucine-rich PPR-motif containing
MAPT
microtubule-associated protein tau
NME1
non-metastatic cells 1, protein (NM23A) expressed in
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
QDPR
quinoid dihydropteridine reductase
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAPB
VAMP (vesicle-associated membrane protein)-associated protein B and C

Hyporeflexia (HP:0001265) 10 genes

CRYAB
crystallin, alpha B
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PLP1
proteolipid protein 1
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
VAPB
VAMP (vesicle-associated membrane protein)-associated protein B and C

Reduced reflexes (HP:0001315) 12 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
BIN1
bridging integrator 1
CRYAB
crystallin, alpha B
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NEFL
neurofilament, light polypeptide
PLP1
proteolipid protein 1
RAB7A
RAB7A, member RAS oncogene family
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
VAPB
VAMP (vesicle-associated membrane protein)-associated protein B and C

Abnormality of the cerebrum (HP:0002060) 23 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CA2
carbonic anhydrase II
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
GJA1
gap junction protein, alpha 1, 43kDa
GNAS
GNAS complex locus
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
MAPT
microtubule-associated protein tau
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TUBA1A
tubulin, alpha 1a
VCP
valosin-containing protein
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

"Mental retardation, mild" (HP:0001256) 6 genes

ACTB
actin, beta
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
DLAT
dihydrolipoamide S-acetyltransferase
FLNA
filamin A, alpha
MAOA
monoamine oxidase A
PTPN11
protein tyrosine phosphatase, non-receptor type 11

Behavioural/Psychiatric Manifestations (HP:0000708) 17 genes

ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CC2D1A
coiled-coil and C2 domain containing 1A
CST3
cystatin C
DLAT
dihydrolipoamide S-acetyltransferase
DLD
dihydrolipoamide dehydrogenase
GNAS
GNAS complex locus
GPHN
gephyrin
MAOA
monoamine oxidase A
MAPT
microtubule-associated protein tau
PGK1
phosphoglycerate kinase 1
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SYN1
synapsin I
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP
valosin-containing protein

Neurological speech impairment (HP:0002167) 12 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
CC2D1A
coiled-coil and C2 domain containing 1A
DLAT
dihydrolipoamide S-acetyltransferase
GJA1
gap junction protein, alpha 1, 43kDa
L1CAM
L1 cell adhesion molecule
MAPT
microtubule-associated protein tau
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Hyperreflexia (HP:0001347) 10 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
DLAT
dihydrolipoamide S-acetyltransferase
GJA1
gap junction protein, alpha 1, 43kDa
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2

Neonatal hypotonia (HP:0001319) 5 genes

BIN1
bridging integrator 1
DLAT
dihydrolipoamide S-acetyltransferase
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TPM3
tropomyosin 3

Microcephaly (HP:0000252) 12 genes

DLAT
dihydrolipoamide S-acetyltransferase
GJA1
gap junction protein, alpha 1, 43kDa
GNPAT
glyceronephosphate O-acyltransferase
HSPD1
heat shock 60kDa protein 1 (chaperonin)
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormality of the corticospinal tracts (HP:0002492) 7 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
L1CAM
L1 cell adhesion molecule
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PLP1
proteolipid protein 1

Cognitive abnormality (HP:0002302) 7 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CST3
cystatin C
MAPT
microtubule-associated protein tau
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
PRKCG
protein kinase C, gamma
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP
valosin-containing protein

Dysarthria (HP:0001260) 9 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
GJA1
gap junction protein, alpha 1, 43kDa
MAPT
microtubule-associated protein tau
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Areflexia (HP:0001284) 6 genes

ABCD3
ATP-binding cassette, sub-family D (ALD), member 3
BIN1
bridging integrator 1
DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family

Reduced consciousness/confusion (HP:0004372) 8 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
DLD
dihydrolipoamide dehydrogenase
FLNA
filamin A, alpha
GLUD1
glutamate dehydrogenase 1
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Choreoathetosis (HP:0001266) 4 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
HSPD1
heat shock 60kDa protein 1 (chaperonin)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PLP1
proteolipid protein 1

Abnormality of the pyramidal tracts (HP:0002062) 4 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
HSPD1
heat shock 60kDa protein 1 (chaperonin)
MAPT
microtubule-associated protein tau
SPTBN2
spectrin, beta, non-erythrocytic 2

Distal limb muscle weakness due to peripheral neuropathy (HP:0002935) 4 genes

DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family

Distal limb muscle weakness (HP:0003497) 4 genes

DNM2
dynamin 2
HSPB1
heat shock 27kDa protein 1
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family

Aplasia/Hypoplasia of the cerebrum (HP:0007364) 13 genes

DLAT
dihydrolipoamide S-acetyltransferase
GJA1
gap junction protein, alpha 1, 43kDa
GNPAT
glyceronephosphate O-acyltransferase
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Mood alterations (HP:0001296) 4 genes

ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
GNAS
GNAS complex locus
PGK1
phosphoglycerate kinase 1
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)

Babinski sign (HP:0003487) 6 genes

CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
HSPD1
heat shock 60kDa protein 1 (chaperonin)
KIF5A
kinesin family member 5A
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PLP1
proteolipid protein 1

Aplasia/Hypoplasia involving the central nervous system (HP:0002977) 13 genes

DLAT
dihydrolipoamide S-acetyltransferase
GJA1
gap junction protein, alpha 1, 43kDa
GNPAT
glyceronephosphate O-acyltransferase
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
HSPD1
heat shock 60kDa protein 1 (chaperonin)
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PHGDH
phosphoglycerate dehydrogenase
PLP1
proteolipid protein 1
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Myoclonus (HP:0001336) 5 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GPHN
gephyrin
NME1
non-metastatic cells 1, protein (NM23A) expressed in
QDPR
quinoid dihydropteridine reductase

Developmental retardation (HP:0001263) 11 gene

ACTB
actin, beta
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
LRPPRC
leucine-rich PPR-motif containing
MYO5A
myosin VA (heavy chain 12, myoxin)
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
PGK1
phosphoglycerate kinase 1
PLP1
proteolipid protein 1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
TPI1
triosephosphate isomerase 1

Sensorineural deafness (HP:0000374) 9 genes

ACTB
actin, beta
COX6B1
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
MYH14
myosin, heavy chain 14, non-muscle
MYH9
myosin, heavy chain 9, non-muscle
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
OPA1
optic atrophy 1 (autosomal dominant)
PTPN11
protein tyrosine phosphatase, non-receptor type 11
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Generalized tonic-clonic seizures (HP:0002069) 3 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1

Enlarged ventricles (HP:0002447) 3 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
TUBA1A
tubulin, alpha 1a

Coma (HP:0001259) 5 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
DLD
dihydrolipoamide dehydrogenase
GLUD1
glutamate dehydrogenase 1
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

Abnormality of the cerebral ventricles (HP:0002118) 5 genes

GNAS
GNAS complex locus
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
TUBA1A
tubulin, alpha 1a

Aplasia/Hypoplasia of the corpus callosum (HP:0007370) 5 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormality of the brainstem (HP:0002363) 3 genes

GFAP
glial fibrillary acidic protein
GSN
gelsolin
TUBA1A
tubulin, alpha 1a

Muscle cramps (HP:0003394) 3 genes

HSPB1
heat shock 27kDa protein 1
PFKM
phosphofructokinase, muscle
PGK1
phosphoglycerate kinase 1

Mental deterioration (HP:0001268) 5 genes

GFAP
glial fibrillary acidic protein
MAPT
microtubule-associated protein tau
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PLP1
proteolipid protein 1

Decreased number of myelinated fibers (HP:0003380) 3 genes

DNM2
dynamin 2
NEFL
neurofilament, light polypeptide
RAB7A
RAB7A, member RAS oncogene family

Generalized seizures (HP:0002197) 3 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1

Tremor (HP:0001337) 5 genes

LRPPRC
leucine-rich PPR-motif containing
MAPT
microtubule-associated protein tau
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

"Muscle weakness, proximal" (HP:0003701) 4 genes

BIN1
bridging integrator 1
CRYAB
crystallin, alpha B
DNM2
dynamin 2
VCP
valosin-containing protein

Cerebral atrophy (HP:0002059) 6 genes

GPHN
gephyrin
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
VCP
valosin-containing protein

Atrophy/Degeneration affecting the cerebrum (HP:0007369) 6 genes

GPHN
gephyrin
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
SLC25A22
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
VCP
valosin-containing protein

Facial paralysis (HP:0002008) 4 genes

BIN1
bridging integrator 1
DCTN1
dynactin 1
DNM2
dynamin 2
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Gait ataxia (HP:0002066) 3 genes

PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SPTBN2
spectrin, beta, non-erythrocytic 2

Abnormality of the corpus callosum (HP:0001273) 5 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

"Mental retardation, progressive" (HP:0006887) 5 genes

ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
CC2D1A
coiled-coil and C2 domain containing 1A
HSPD1
heat shock 60kDa protein 1 (chaperonin)
RAB3GAP2
RAB3 GTPase activating protein subunit 2 (non-catalytic)
TUBA1A
tubulin, alpha 1a

Central nervous system malformations (HP:0007319) 6 genes

FLNA
filamin A, alpha
GFAP
glial fibrillary acidic protein
HSPD1
heat shock 60kDa protein 1 (chaperonin)
L1CAM
L1 cell adhesion molecule
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

Atrophy/Degeneration affecting the central nervous system (HP:0007367) 5 genes

MAPT
microtubule-associated protein tau
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2
UBA1
ubiquitin-like modifier activating enzyme 1

Abnormality of the spinal cord and vertebral column (HP:0002143) 4 genes

APOE
apolipoprotein E
CCT5
chaperonin containing TCP1, subunit 5 (epsilon)
NME1
non-metastatic cells 1, protein (NM23A) expressed in
PTPN11
protein tyrosine phosphatase, non-receptor type 11

Rigidity (HP:0002063) 3 genes

MAPT
microtubule-associated protein tau
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Dementia (HP:0000726) 4 genes

CST3
cystatin C
MAPT
microtubule-associated protein tau
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP
valosin-containing protein

Lethargy (HP:0001254) 4 genes

DLD
dihydrolipoamide dehydrogenase
NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1

Abnormal cortical gyration (HP:0002536) 3 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Agenesis of corpus callosum (HP:0001274) 3 genes

L1CAM
L1 cell adhesion molecule
PDHA1
pyruvate dehydrogenase (lipoamide) alpha 1
TUBA1A
tubulin, alpha 1a

Abnormality of the cerebellum (HP:0001317) 7 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
L1CAM
L1 cell adhesion molecule
PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2
TUBA1A
tubulin, alpha 1a

Cerebellar ataxia (HP:0001253) 3 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2

Bilateral sensorineural deafness (HP:0008530) 3 genes

MYH14
myosin, heavy chain 14, non-muscle
MYH9
myosin, heavy chain 9, non-muscle
OPA1
optic atrophy 1 (autosomal dominant)

Dysphagia (HP:0002015) 4 genes

ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
MAPT
microtubule-associated protein tau
PRKCG
protein kinase C, gamma
SLC25A4
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Abnormality of the cerebral cortex (HP:0002538) 3 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Apraxia (HP:0002186) 2 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
DLAT
dihydrolipoamide S-acetyltransferase

Atrophy/Degeneration affecting the cerebellum (HP:0007368) 3 genes

PLP1
proteolipid protein 1
PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2

Psychosis (HP:0000709) 2 genes

GNAS
GNAS complex locus
PRKAR1A
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)

Aggressiveness (HP:0000718) 2 genes

MAOA
monoamine oxidase A
SYN1
synapsin I

Hydrocephalus (HP:0000238) 3 genes

FLNA
filamin A, alpha
GFAP
glial fibrillary acidic protein
L1CAM
L1 cell adhesion molecule

Cerebellar malformation (HP:0002438) 2 genes

L1CAM
L1 cell adhesion molecule
TUBA1A
tubulin, alpha 1a

Decreased nerve conduction velocities (HP:0000762) 2 genes

HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
NEFL
neurofilament, light polypeptide

Encephalopathy (HP:0001298) 2 genes

NDUFS1
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

EEG abnormalities (HP:0002353) 2 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
PHGDH
phosphoglycerate dehydrogenase

Hypertonia (HP:0001276) 2 genes

DLD
dihydrolipoamide dehydrogenase
PHGDH
phosphoglycerate dehydrogenase

Generalized muscle weakness (HP:0003324) 2 genes

HADHA
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit

Neurophysiological abnormality (HP:0001311) 2 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
PHGDH
phosphoglycerate dehydrogenase

Incoordination (HP:0002311) 2 genes

GPHN
gephyrin
SPTBN2
spectrin, beta, non-erythrocytic 2

Cerebellar atrophy (HP:0001272) 2 genes

PRKCG
protein kinase C, gamma
SPTBN2
spectrin, beta, non-erythrocytic 2

Hallucinations (HP:0000738) 1 gene

DLD
dihydrolipoamide dehydrogenase

Behavioral disturbances (HP:0000715) 1 gene

MAPT
microtubule-associated protein tau

Polyneuropathy (HP:0001271) 1 gene

GSN
gelsolin

Headache (HP:0002315) 1 gene

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide

Irritability (HP:0000737) 1 gene

MAPT
microtubule-associated protein tau

Photophobia (HP:0000613) 1 gene

MAPT
microtubule-associated protein tau

Speech delay (HP:0002117) 1 gene

PGK1
phosphoglycerate kinase 1

Hyperactivity (HP:0000752) 1 gene

CC2D1A
coiled-coil and C2 domain containing 1A

Learning disability (HP:0001328) 1 gene

SYN1
synapsin I

Deficiency of speech development (HP:0002116) 1 gene

PGK1
phosphoglycerate kinase 1

Supplementary Table 6. Brain datasets used in phenotype enrichment analysis

For each of the three sets of brain molecules (mouse brain proteome, human cortical neuron transcriptome and human astrocyte trasncriptome) all Ensembl identifiers are given.

Mouse brain proteomics dataset (3874)

Human cortical neuron transcriptomic dataset (1709)

Human astrocyte transcriptomic dataset (1355)

Supplementary Table 7a. Summary of mammalian neural phenotype gene set enrichment analysis.

Mammalian Phenotype Ontology (MPO) phenotypes that are are overrepresented in the human PSD relative to the non-PSD subsets of: mouse brain, human cortical neuron and human astrocyte sets are shown. All are significant at p<0.05, fold changes marked with asterisks are highly significant, ** p < 0.01; *** p < 0.001.

Phenotype Group Phenotype Subgroup hPSD Genes Neuron Mouse brain Astrocyte
General Nervous system phenotype 167 1.6*** 2.2*** 2.2***
General Abnormal behavior 137 1.5*** 2.1*** 2***
General Abnormal nervous system physiology 117 1.9*** 2.5*** 3.7***
General Abnormal nervous system morphology 125 1.6*** 2.4*** 1.9***
Cognitive Abnormal learning/memory/conditioning 57 2.2*** 3.6*** 8.6***
Cognitive Abnormal emotion/affect behavior 38 2.7*** 3.2*** 5.7***
Cognitive Abnormal social/conspecific interaction 21 2.4** 2.4** 2**
Cognitive Addiction/drug abuse 12 4.9*** 3.4** 6.6***
Motor Abnormal motor capabilities/coordination/movement 91 1.4** 2*** 1.9***
Physiology Synaptic transmission - manually defined 38 2.5*** 3.1*** 4.8***
Physiology Synaptic plasticity - manually defined 41 2.8*** 5.6*** 6.4***
Physiology Seizures 37 2.5*** 3.5*** 6.3***
Physiology Abnormal neuron physiology 15 3.8*** 9.6*** 24.8***
Physiology Abnormal touch/ nociception 19 1.8 2.5** 3.1***
Physiology Pharmacologically induced seizures 15 1.9 3.7*** 6.2***
Morphology Abnormal brain morphology 83 1.6*** 2.6*** 2.3***
Morphology Abnormal neuron morphology 76 1.7*** 2.8*** 3***
Morphology Abnormal somatic nervous system morphology 41 1.9*** 2.4*** 2.3***
Morphology Neurodegeneration 23 2.1** 1.9 3.8***
Morphology Abnormal spinal cord morphology 21 1.8 3*** 3.2***
Morphology Abnormal myelination 11 2.2 2.9** 3**
Filter: TXTCSVXLS

Supplementary Table 7b. Full mammalian neural phenotype gene set enrichment analysis.

All phenotypes of neural origin from Mammalian Phenotype Ontology (MPO) are included, as well as two manually defined phenotypes representing synaptic transmission and synaptic plasticity. For each MPO phenotype the MPO ID and description are given. The number of genes from the genome or the hPSD causing each phenotype is shown under the Genome and hPSD columns. Phenotype overrepresentation in the hPSD is with respect to the genome, and approved (HGNC) symbols for relevant hPSD genes are given. For each background dataset (mouse brain proteome, human cortical neuron transcriptome and human astrocyte transcriptome) number of phenotype genes present in the non-hPSD portion of the background dataset are listed in the dataset column Overrepresentation of phenotype genes in the background sets is computed relative to the genome in the column Overrep (dataset/genome). P-value of overrepresentation of the phenotype in the hPSD relative to the background set is denoted P-value (hPSD > Other) and is computed based on the observed overrepresentation in the hPSD and compared to the overrepresentation that would be observed if the hPSD were only as overrepresented in the particular phenotype as the background set. P-values were calculated using binomial statistics and corrected using the Benjamini-Hochberg false discovery rate procedure at alpha = 0.05.

  hPSD Non-PSD Mouse Brain Non-PSD Neuron Expressed (mRNA >3x median) Non-PSD Astrocyte Expressed (mRNA >3x median)  
View Genes MP ID MP Term Genes in Genome Number of Genes Overrep (vs. Genome) P-value (vs. Genome) Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Number of Genes Overrep (dataset/ genome) P-value (hPSD > dataset) hPSD relative overrep Genes
View MP:0003633 Abnormal nervous system physiology 870 117 3.8 1E-31 213 1.5 1E-12 2.5 127 2.0 0.000000004 1.9 53 1.0 1E-29 3.7 AARS ADD2 AFG3L2 AMPH ANK1 ANK3 AP3B2 APOD APOE AQP4 ATP1A2 ATP1B2 ATP2B2 BAIAP2 BCAN BSN CACNA2D1 CACNB4 CADPS CAMK2A CIT CKB CKMT1B CLIP2 CNP CNTN2 CNTNAP1 CRMP1 CST3 CTNNA2 CTNND2 DBNL DCTN1 DLG2 DLG3 DLG4 DLGAP3 DNM1 DPYSL4 DST DYNC1H1 EPHA4 ERC2 FYN GABBR2 GABRA1 GDI1 GFAP GNAO1 GPHN GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B GSN HOMER1 HSPA1B ICAM5 ITSN1 KIF1A L1CAM LPHN1 LYN LYNX1 MAOA MAP1B MAP6 MAPK3 MAPT MBP MYO5A MYO6 NCAN NEFM NFASC NRXN1 PCMT1 PLCB1 PLP1 PPP1R9B PRKCG PTPRD PTPRS PTPRZ1 PURA RAB3A RIMS1 RTN4 RYR2 SHANK1 SLC1A3 SLC25A12 SNAP25 SPTBN4 STX1A STX1B STXBP1 SYN1 SYN2 SYN3 SYNGAP1 SYNJ1 SYNPO SYT1 TFAM TMOD2 TNC TNR TRIM2 UCHL1 UNC13A VAMP2 VDAC1 VDAC3 VIM WASF1
View MP:0003631 Nervous system phenotype 1663 167 2.8 7E-30 337 1.3 1E-18 2.2 218 1.8 0.0000003 1.6 128 1.3 3E-18 2.2 AARS ABI2 ADD1 ADD2 AFG3L2 AMPH ANK1 ANK2 ANK3 AP3B2 APOD APOE AQP4 ATP1A2 ATP1B2 ATP2B2 BAIAP2 BASP1 BCAN BSN CACNA2D1 CACNB4 CADPS CAMK2A CDH2 CDK5 CFL1 CIT CKB CKMT1B CLIP2 CNP CNTN1 CNTN2 CNTNAP1 CRMP1 CST3 CTNNA2 CTNND2 DBNL DCLK1 DCTN1 DLG2 DLG3 DLG4 DLGAP3 DNM1 DPYSL4 DST DYNC1H1 EPHA4 ERC2 FKBP8 FYN GABBR2 GABRA1 GAP43 GDI1 GFAP GJA1 GNAO1 GNPAT GPHN GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B GSN HOMER1 HSPA1B ICAM5 ITSN1 KIF1A KIF2A KIF5A KIF5C KRAS L1CAM LLGL1 LMO7 LPHN1 LYN LYNX1 MAOA MAOB MAP1B MAP2 MAP6 MAPK3 MAPT MARK2 MBP MLLT4 MYH10 MYO5A MYO6 NAPA NCAM1 NCAM2 NCAN NCKAP1 NEFH NEFL NEFM NFASC NME1 NRCAM NRXN1 OPA1 PCMT1 PEA15 PHGDH PLCB1 PLP1 PLXNA1 PLXNA4A PPP1R9B PPP3CA PRKCG PRPH PTPN11 PTPRD PTPRS PTPRZ1 PURA RAB3A RAPGEF2 RIMS1 RTN4 RYR2 SCRIB SHANK1 SLC1A3 SLC25A12 SNAP25 SNTA1 SPTBN1 SPTBN4 STX1A STX1B STXBP1 STXBP3 SYN1 SYN2 SYN3 SYNGAP1 SYNJ1 SYNPO SYT1 TFAM TMOD2 TNC TNR TOM1L2 TRIM2 TUBA1A UCHL1 UNC13A VAMP2 VCL VDAC1 VDAC3 VIM WASF1 WASL YWHAE
View MP:0003635 Abnormal synaptic transmission 322 65 5.6 1E-27 92 1.8 8E-15 3.2 60 2.6 0.00000006 2.2 20 1.0 2E-27 5.4 ADD2 AFG3L2 ATP1A2 BAIAP2 BCAN BSN CACNA2D1 CACNB4 CADPS CAMK2A CKMT1B CRMP1 CTNNA2 CTNND2 DLG2 DLG3 DLG4 DLGAP3 DNM1 DPYSL4 EPHA4 ERC2 FYN GABBR2 GABRA1 GDI1 GFAP GNAO1 GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B ICAM5 LPHN1 LYNX1 MAPK3 MBP NCAN NRXN1 PPP1R9B PRKCG PTPRD RAB3A RIMS1 SHANK1 SLC1A3 SNAP25 STX1A STX1B STXBP1 SYN1 SYN2 SYN3 SYNGAP1 SYNJ1 SYNPO SYT1 TMOD2 TNC UNC13A VAMP2 VDAC1 VDAC3 WASF1
View MP:0002206 Abnormal cns synaptic transmission 268 59 6.2 2E-27 77 1.8 4E-13 3.4 57 2.9 0.0000005 2.1 17 1.1 2E-26 5.7 ADD2 BAIAP2 BCAN BSN CACNA2D1 CACNB4 CADPS CAMK2A CKMT1B CRMP1 CTNNA2 CTNND2 DLG2 DLG3 DLG4 DLGAP3 DNM1 DPYSL4 EPHA4 ERC2 FYN GABBR2 GABRA1 GDI1 GFAP GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B ICAM5 LYNX1 MAPK3 MBP NCAN PPP1R9B PRKCG PTPRD RAB3A RIMS1 SHANK1 SLC1A3 SNAP25 STX1A STX1B SYN1 SYN2 SYN3 SYNGAP1 SYNJ1 SYNPO SYT1 TMOD2 TNC UNC13A VAMP2 VDAC1 VDAC3 WASF1
View MP:0002063 Abnormal learning/memory/conditioning 279 57 5.7 8E-25 71 1.6 3E-15 3.6 52 2.6 0.0000002 2.2 11 0.7 1E-29 8.6 ABI2 ADD2 AMPH APOD APOE ATP1A1 ATP1A2 ATP1A3 BAIAP2 CAMK2A CAMKK1 CKB CKMT1B CLIP2 CRMP1 CTNNA2 CTNND2 DLG3 DLG4 FYN GABBR2 GABRA1 GDI1 GFAP GNAS GRIA1 GRIA2 GRIN1 GRIN2B HOMER1 ICAM5 L1CAM LSAMP LYNX1 MAP1B MAP2 MAPK3 MAPT NCAM1 OPA1 PPP1R9B PRKCG PTPRD PTPRZ1 RGS7 SHANK1 SNAP25 STX1A SYNGAP1 SYNPO TMOD2 TNC TUBA1A VDAC1 VDAC3 VIM WASF1
View MP:0005386 Behavior/neurological phenotype 1389 137 2.8 3E-24 290 1.3 3E-14 2.1 191 1.9 0.00007 1.5 115 1.4 1E-12 2.0 AARS ABI2 ADD2 AFG3L2 AMPH ANK1 ANK2 ANK3 AP3B2 APOD APOE AQP4 ARHGDIA ATP1A1 ATP1A2 ATP1A3 ATP1B2 ATP2A2 ATP2B2 ATP2B4 BAIAP2 BASP1 BIN1 BSN CACNB4 CAMK2A CAMKK1 CASK CDK5 CIT CKB CKMT1B CLIP2 CNP CNTN1 CNTN2 CNTNAP1 CRMP1 CRYAB CTNNA2 CTNNB1 CTNND2 DBNL DCTN1 DLG1 DLG2 DLG3 DLG4 DLGAP3 DNM1 DST DYNC1H1 EPHA4 FKBP8 FMN2 FYN GABBR2 GABRA1 GDI1 GFAP GJA1 GNAI2 GNAO1 GNAS GNAZ GPHN GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B HOMER1 HSD17B4 ICAM5 KIF1A KIF2A KLC1 L1CAM LMO7 LPHN1 LSAMP LYNX1 MAOA MAOB MAP1B MAP2 MAP6 MAPK3 MAPT MBP MYH10 MYO5A MYO6 NAPA NCAM1 NPEPPS NRCAM OPA1 PCMT1 PLCB1 PLP1 PPP1R9B PRKAR2B PRKCG PTPRD PTPRZ1 PURA RAB3A RAB6B RGS7 RIMS1 RYR2 SHANK1 SLC1A3 SLC25A12 SLC27A4 SNAP25 SPTBN4 STX1A STX1B SYN1 SYN2 SYNGAP1 SYNJ1 SYNPO SYT1 TMOD2 TNC TOM1L2 TRIM2 TUBA1A UCHL1 UNC13A VDAC1 VDAC3 VIM WASF1
View MP:0004924 Abnormal behavior 1389 137 2.8 3E-24 290 1.3 3E-14 2.1 191 1.9 0.00007 1.5 115 1.4 1E-12 2.0 AARS ABI2 ADD2 AFG3L2 AMPH ANK1 ANK2 ANK3 AP3B2 APOD APOE AQP4 ARHGDIA ATP1A1 ATP1A2 ATP1A3 ATP1B2 ATP2A2 ATP2B2 ATP2B4 BAIAP2 BASP1 BIN1 BSN CACNB4 CAMK2A CAMKK1 CASK CDK5 CIT CKB CKMT1B CLIP2 CNP CNTN1 CNTN2 CNTNAP1 CRMP1 CRYAB CTNNA2 CTNNB1 CTNND2 DBNL DCTN1 DLG1 DLG2 DLG3 DLG4 DLGAP3 DNM1 DST DYNC1H1 EPHA4 FKBP8 FMN2 FYN GABBR2 GABRA1 GDI1 GFAP GJA1 GNAI2 GNAO1 GNAS GNAZ GPHN GRIA1 GRIA2 GRIA3 GRIN1 GRIN2B HOMER1 HSD17B4 ICAM5 KIF1A KIF2A KLC1 L1CAM LMO7 LPHN1 LSAMP LYNX1 MAOA MAOB MAP1B MAP2 MAP6 MAPK3 MAPT MBP MYH10 MYO5A MYO6 NAPA NCAM1 NPEPPS NRCAM OPA1 PCMT1 PLCB1 PLP1 PPP1R9B PRKAR2B PRKCG PTPRD PTPRZ1 PURA RAB3A RAB6B RGS7 RIMS1 RYR2 SHANK1 SLC1A3 SLC25A12 SLC27A4 SNAP25 SPTBN4 STX1A STX1B SYN1 SYN2 SYNGAP1 SYNJ1 SYNPO SYT1 TMOD2 TNC TOM1L2 TRIM2 TUBA1A UCHL1 UNC13A VDAC1 VDAC3 VIM WASF1
View N/A Synaptic plasticity - manually defined 163 41 7.0 1E-21 38 1.5 3E-15 4.8 39 3.3 0.00002 2.1 8 0.8 7E-24 8.5 ADD2 BAIAP2 BCAN BSN CAMK2A CRMP1 CTNND2 DLG3 DLG4 DPYSL4 EPHA4 FYN GDI1 GFAP GRIA1 GRIA2 GRIA3 GRIN1 ICAM5 LYNX1 MAPK3 NCAN PPP1R9B PRKCG PTPRD RAB3A RIMS1 SNAP25 STX1A SYN1 SYN2 SYN3 SYNGAP1 SYNJ1 SYNPO SYT1 TMOD2 TNC VDAC1 VDAC3 WASF1
View MP:0003632 Abnormal nervous system morphology 1298 125 2.7 2E-21 235 1.1 2E-16 2.4 161 1.7 0.000006 1.6 107 1.4 2E-10 1.9 AARS ABI2 ADD1 AFG3L2 ANK1 ANK2 ANK3 APOE ATP1A2 ATP1B2 ATP2B2 BASP1 BCAN BSN CACNB4 CADPS CAMK2A CDH2 CDK5 CFL1 CIT CKB CLIP2 CNP CNTN1 CNTN2 CNTNAP1 CRMP1 CST3 CTNNA2 DCLK1 DCTN1 DLG2 DLG4 DLGAP3 DNM1 DPYSL4 DST DYNC1H1 EPHA4 FKBP8 FYN GAP43 GDI1 GFAP GJA1 GNPAT GPHN GRIA1 GRIA2 GRIN1 KIF1A KIF2A KIF5A KIF5C KRAS L1CAM LLGL1 LMO7 LYNX1 MAOA MAOB MAP1B MAP2 MAP6 MAPT MARK2 MBP MLLT4 MYH10 MYO6 NAPA NCAM1 NCAM2 NCKAP1 NEFH NEFL NEFM NFASC NME1 NRCAM OPA1 PCMT1 PEA15 PHGDH PLCB1 PLP1 PLXNA1 PLXNA4A PPP1R9B PPP3CA PRPH PTPN11 PTPRS PTPRZ1 PURA RAPGEF2 RIMS1 RTN4 SCRIB SHANK1 SLC1A3 SLC25A12 SNAP25 SNTA1 SPTBN1 SPTBN4 STXBP3 SYN1 SYN2 SYN3 SYNGAP1 SYNPO TFAM TNR TOM1L2 TRIM2 TUBA1A UCHL1 UNC13A VCL VIM WASF1 WASL YWHAE
View MP:0008540 Abnormal cerebrum morphology 249 48 5.4 5E-20 46 1.2 1E-16 4.7 39 2.1 0.0000001 2.5 15 1.0 5E-19 5.3 ABI2 ANK2 APOE ATP2B2 BASP1 BCAN CDK5 CIT CKB CLIP2 CRMP1 CST3 CTNNA2 DCLK1 DLG4 DPYSL4 EPHA4 FKBP8 FYN GDI1 GRIA2 KIF2A L1CAM LYNX1 MAOA MAP1B MAP2 MAPT MYH10 NAPA NCAM1 PCMT1 PLCB1 PLXNA4A PPP1R9B PPP3CA PURA RIMS1 SHANK1 SNAP25 SPTBN4 STXBP3 SYN1 SYNGAP1 TNR TUBA1A WASF1 YWHAE
View MP:0001449 Abnormal learning/ memory 244 47 5.4 1E-19 63 1.6 1E-11 3.3 43 2.4 0.000003 2.2 9 0.6 5E-24 8.6 ABI2 ADD2 AMPH APOD APOE ATP1A1 ATP1A2 ATP1A3 BAIAP2 CAMK2A CAMKK1 CKB CKMT1B CLIP2 CRMP1 CTNND2 DLG3 DLG4 FYN GABRA1 GDI1 GNAS GRIA1 GRIA2 GRIN1 ICAM5 L1CAM LSAMP MAP1B MAP2 MAPT NCAM1 OPA1 PRKCG PTPRD PTPRZ1 RGS7 SHANK1 SNAP25 SYNGAP1 SYNPO TMOD2 TUBA1A VDAC1 VDAC3 VIM WASF1
View MP:0000787 Abnormal telencephalon morphology 348 56 4.5 2E-19 61 1.1 1E-16 4.1 49 1.9 0.0000001 2.3 21 1.0 6E-19 4.4 ABI2 ANK2 APOE ATP1A2 ATP1B2 ATP2B2 BASP1 BCAN CDK5 CIT CKB CLIP2 CRMP1 CST3 CTNNA2 DCLK1 DLG4 DLGAP3 DPYSL4 EPHA4 FKBP8 FYN GDI1 GRIA2 KIF2A L1CAM LYNX1 MAOA MAP1B MAP2 MAPT MYH10 NAPA NCAM1 NCAM2 PCMT1 PHGDH PLCB1 PLXNA4A PPP1R9B PPP3CA PTPRS PURA RIMS1 SHANK1 SLC25A12 SNAP25 SPTBN4 STXBP3 SYN1 SYNGAP1 SYNPO TNR TUBA1A WASF1 YWHAE
View MP:0002882 Abnormal neuron morphology 623 76 3.4 6E-19 122 1.2 1E-13 2.8 89 2.0 0.00002 1.7 42 1.1 4E-15 3.0 AARS ABI2 AFG3L2 ANK1 ANK2 ANK3 APOE ATP1B2 ATP2B2 BASP1 BSN CACNB4 CADPS CAMK2A CDK5 CIT CNTN1 CNTN2 CNTNAP1 CRMP1 CTNNA2 DCLK1 DCTN1 DLG4 DNM1 DPYSL4 DST DYNC1H1 EPHA4 FYN GAP43 GDI1 GPHN GRIA1 GRIA2 GRIN1 KIF1A KIF2A KIF5A KIF5C KRAS L1CAM LMO7 LYNX1 MAOA MAOB MAP1B MAP2 MAP6 MAPT MBP MYH10 MYO6 NAPA NEFH NEFL NEFM NFASC NRCAM PCMT1 PLP1 PLXNA4A PPP1R9B PRPH SHANK1 SLC1A3 SPTBN4 SYN1 SYN2 SYNGAP1 TRIM2 TUBA1A UCHL1 UNC13A VIM WASF1
View MP:0000801 Abnormal temporal lobe morphology 152 36 6.6 3E-18 30 1.2 7E-15 5.4 21 1.9 0.000000003 3.5 7 0.8 3E-19 8.5 ABI2 APOE ATP2B2 BASP1 BCAN CDK5 CIT CKB CRMP1 CST3 CTNNA2 DLG4 DPYSL4 FYN GDI1 GRIA2 KIF2A L1CAM MAP1B MAP2 MAPT NCAM1 PCMT1 PLCB1 PLXNA4A PPP1R9B PPP3CA PURA SHANK1 SNAP25 SPTBN4 SYN1 SYNGAP1 TNR TUBA1A YWHAE
View MP:0002152 Abnormal brain morphology 760 83 3.1 1E-17 144 1.2 3E-13 2.6 104 1.9 0.0001 1.6 59 1.3 4E-11 2.3 AARS ABI2 ADD1 ANK1 ANK2 ANK3 APOE ATP1A2 ATP1B2 ATP2B2 BASP1 BCAN CACNB4 CDH2 CDK5 CIT CKB CLIP2 CNTN1 CRMP1 CST3 CTNNA2 DCLK1 DLG4 DLGAP3 DPYSL4 EPHA4 FKBP8 FYN GAP43 GDI1 GFAP GRIA2 GRIN1 KIF2A KIF5C KRAS L1CAM LLGL1 LYNX1 MAOA MAP1B MAP2 MAPT MARK2 MYH10 NAPA NCAM1 NCAM2 NRCAM OPA1 PCMT1 PHGDH PLCB1 PLP1 PLXNA4A PPP1R9B PPP3CA PTPRS PURA RAPGEF2 RIMS1 SCRIB SHANK1 SLC1A3 SLC25A12 SNAP25 SPTBN1 SPTBN4 STXBP3 SYN1 SYN2 SYNGAP1 SYNPO TNR TOM1L2 TRIM2 TUBA1A UCHL1 VCL VIM WASF1 YWHAE
View MP:0002066 Abnormal motor capabilities/coordination/movement 911 91 2.8 6E-17 200 1.4 0.000000005 2.0 132 2.0 0.004 1.4 80 1.5 0.00000008 1.9 AARS AFG3L2 ANK1 ANK2 ANK3 AP3B2 APOD APOE ARHGDIA ATP1A1 ATP1A2 ATP1A3 ATP1B2 ATP2A2 ATP2B2 ATP2B4 BASP1 BSN CACNB4 CAMK2A CASK CDK5 CIT CKMT1B CLIP2 CNP CNTN1 CNTNAP1 CRYAB CTNNA2 CTNNB1 CTNND2 DBNL DCTN1 DLG3 DNM1 DST DYNC1H1 EPHA4 FKBP8 FYN GABBR2 GABRA1 GNAO1 GNAS GPHN GRIA1 GRIA2 GRIA3 GRIN1 HSD17B4 KIF1A KLC1 L1CAM LYNX1 MAOA MAOB MAP6 MAPK3 MAPT MBP MYH10 MYO5A MYO6 NAPA NPEPPS NRCAM PLP1 PRKAR2B PTPRD PURA RGS7 SHANK1 SLC1A3 SLC25A12 SLC27A4 SNAP25 SPTBN4 STX1B SYNGAP1 SYNJ1 SYNPO TMOD2 TNC TOM1L2 TRIM2 TUBA1A UCHL1 UNC13A VIM WASF1
View MP:0000807 Abnormal hippocampus morphology 148 34 6.4 6E-17 30 1.3 2E-13 5.1 21 1.9 0.00000003 3.3 7 0.8 1E-17 8.0 ABI2 APOE BASP1 BCAN CDK5 CIT CKB CRMP1 CST3 CTNNA2 DLG4 DPYSL4 FYN GDI1 GRIA2 KIF2A L1CAM MAP1B MAP2 MAPT NCAM1 PCMT1 PLCB1 PLXNA4A PPP1R9B PPP3CA PURA SHANK1 SNAP25 SYN1 SYNGAP1 TNR TUBA1A YWHAE
View MP:0000783 Abnormal forebrain morphology 463 60 3.6 2E-16 83 1.1 1E-13 3.2 62 1.8 0.000007 2.0 31 1.1 2E-14 3.2 ABI2 ANK2 APOE ATP1A2 ATP1B2 ATP2B2 BASP1 BCAN CACNB4 CDK5 CIT CKB CLIP2 CRMP1 CST3 CTNNA2 DCLK1 DLG4 DLGAP3 DPYSL4 EPHA4 FKBP8 FYN GDI1 GRIA2 KIF2A L1CAM LYNX1 MAOA MAP1B MAP2 MAPT MARK2 MYH10 NAPA NCAM1 NCAM2 OPA1 PCMT1 PHGDH PLCB1 PLXNA4A PPP1R9B PPP3CA PTPRS PURA RIMS1 SCRIB SHANK1 SLC25A12 SNAP25 SPTBN4 STXBP3 SYN1 SYNGAP1 SYNPO TNR TUBA1A WASF1 YWHAE
View MP:0001516 Abnormal motor coordination/ balance 424 56 3.7 1E-15 109 1.6 0.0000001 2.3 74 2.4 0.004 1.5 25 1.0 5E-15 3.7 AARS AFG3L2 ANK1 ANK2 ANK3 ATP1B2 ATP2A2 ATP2B2 BSN CACNB4 CAMK2A CIT CLIP2 CNP CNTN1 CNTNAP1 CTNNA2 CTNNB1 CTNND2 DBNL DST DYNC1H1 GABRA1 GNAO1 GNAS GRIA2 GRIA3 GRIN1 HSD17B4 KIF1A KLC1 L1CAM LYNX1 MAOA MAP6 MAPT MBP MYH10 MYO5A MYO6 NAPA NRCAM PLP1 PRKAR2B PTPRD SHANK1 SLC1A3 SLC25A12 SPTBN4 STX1B SYNJ1 TNC TRIM2 UCHL1 VIM WASF1
View MP:0002207 Abnormal long term potentiation 116 29 7.0 1E-15 31 1.7 9E-10 4.2 26 3.1 0.0001 2.3 6 0.9 3E-16 8.0 ADD2 BAIAP2 BCAN CAMK2A CRMP1 CTNND2 DLG3 DLG4 DPYSL4 EPHA4 FYN GFAP GRIA1 GRIA2 GRIA3 GRIN1 ICAM5 MAPK3 NCAN PRKCG PTPRD RIMS1 STX1A SYNGAP1 SYNPO TMOD2 TNC VDAC1 WASF1
View MP:0004166 Abnormal limbic system morphology 175 35 5.6 2E-15 33 1.2 8E-13 4.8 25 2.0 0.0000004 2.9 8 0.8 7E-17 7.2 ABI2 APOE ATP1A2 BASP1 BCAN CDK5 CIT CKB CRMP1 CST3 CTNNA2 DLG4 DPYSL4 FYN GDI1 GRIA2 KIF2A L1CAM MAP1B MAP2 MAPT NCAM1 PCMT1 PLCB1 PLXNA4A PPP1R9B PPP3CA PURA SHANK1 SNAP25 SYN1 SYNGAP1 TNR TUBA1A YWHAE
View MP:0008415 Abnormal neurite morphology 88 25 8.0 6E-15 15 1.1 1E-13 7.5 18 2.8 0.00001 2.8 7 1.3 1E-11 5.9 AFG3L2 ANK2 APOE BASP1 CAMK2A CNTNAP1 DCLK1 DST GAP43 GRIA1 KIF2A MAP1B MAPT MBP NEFH NEFL NEFM NFASC NRCAM PCMT1 PLP1 PRPH SHANK1 SPTBN4 TRIM2
View MP:0002064 Seizures 205 37 5.1 8E-15 52 1.6 0.000000009 3.2 41 2.7 0.001 1.8 8 0.7 1E-19 7.7 AMPH ANK3 AP3B2 APOE BSN CACNB4 CAMK2A CIT CKB CNP CNTN2 DBNL DST FYN GABBR2 GABRA1 GFAP GNAO1 GRIA2 GRIA3 GRIN1 MAPT MYO5A PCMT1 PLCB1 PLP1 PPP1R9B PURA RYR2 SLC1A3 SLC25A12 SNAP25 STX1B SYN1 SYN2 SYNJ1 TRIM2
View N/A Synaptic transmission - manually defined 217 38 4.9 9E-15 64 1.8 0.0000006 2.7 34 2.1 0.00002 2.3 15 1.2 9E-14 4.2 ADD2 AFG3L2 ATP1A2 CADPS CAMK2A CKMT1B CTNNA2 DLG2 DLG4 DLGAP3 DNM1 ERC2 FYN GABBR2 GABRA1 GDI1 GNAO1 GRIA1 GRIA2 GRIN1 GRIN2B LPHN1 NRXN1 PPP1R9B RIMS1 SLC1A3 SNAP25 STX1A STX1B STXBP1 SYN1 SYN2 SYN3 SYNGAP1 SYT1 UNC13A VAMP2 WASF1
View MP:0001463 Abnormal spatial learning 111 27 6.8 3E-14 27 1.5 0.000000001 4.5 17 2.1 0.0000007 3.2 4 0.6 8E-18 11.2 ADD2 AMPH APOD APOE ATP1A2 ATP1A3 BAIAP2 CAMK2A CKB CKMT1B CRMP1 CTNND2 DLG3 DLG4 FYN GRIN1 L1CAM NCAM1 PRKCG PTPRD SHANK1 SNAP25 SYNGAP1 SYNPO TMOD2 VDAC1 WASF1
Filter: 309 entries 123...13TXTCSVXLS

Supplementary Table 7c. Mammalian Neural Phenotype gene set enrichment Analysis.

Shown are the genes reported in knockout mouse studies to give rise to the nervous system phenotypes from the Mammalian Phenotype Ontology (MPO).

Nervous system phenotype (MP:0003631) 167 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
ADD1
adducin 1 (alpha)
ADD2
adducin 2 (beta)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
AMPH
amphiphysin
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
AQP4
aquaporin 4
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BAIAP2
BAI1-associated protein 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
BSN
bassoon (presynaptic cytomatrix protein)
CACNA2D1
calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CFL1
cofilin 1 (non-muscle)
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTN2
contactin 2 (axonal)
CNTNAP1
contactin associated protein 1
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DCLK1
doublecortin-like kinase 1
DCTN1
dynactin 1
DLG2
discs, large homolog 2 (Drosophila)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DPYSL4
dihydropyrimidinase-like 4
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
ERC2
ELKS/RAB6-interacting/CAST family member 2
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GAP43
growth associated protein 43
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GSN
gelsolin
HOMER1
homer homolog 1 (Drosophila)
HSPA1B
heat shock 70kDa protein 1B
ICAM5
intercellular adhesion molecule 5, telencephalin
ITSN1
intersectin 1 (SH3 domain protein)
KIF1A
kinesin family member 1A
KIF2A
kinesin heavy chain member 2A
KIF5A
kinesin family member 5A
KIF5C
kinesin family member 5C
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
LMO7
LIM domain 7
LPHN1
latrophilin 1
LYN
v-yes-1 Yamaguchi sarcoma viral related oncogene homolog
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MARK2
MAP/microtubule affinity-regulating kinase 2
MBP
myelin basic protein
MLLT4
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
NCAN
neurocan
NCKAP1
NCK-associated protein 1
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
NME1
non-metastatic cells 1, protein (NM23A) expressed in
NRCAM
neuronal cell adhesion molecule
NRXN1
neurexin 1
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PEA15
phosphoprotein enriched in astrocytes 15
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PLXNA1
plexin A1
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PRKCG
protein kinase C, gamma
PRPH
peripherin
PTPN11
protein tyrosine phosphatase, non-receptor type 11
PTPRD
protein tyrosine phosphatase, receptor type, D
PTPRS
protein tyrosine phosphatase, receptor type, S
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PURA
purine-rich element binding protein A
RAB3A
RAB3A, member RAS oncogene family
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
RIMS1
regulating synaptic membrane exocytosis 1
RTN4
reticulon 4
RYR2
ryanodine receptor 2 (cardiac)
SCRIB
scribbled homolog (Drosophila)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
SPTBN1
spectrin, beta, non-erythrocytic 1
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
STXBP1
syntaxin binding protein 1
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TFAM
transcription factor A, mitochondrial
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TNR
tenascin R (restrictin, janusin)
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)
VCL
vinculin
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
VIM
vimentin
WASF1
WAS protein family, member 1
WASL
Wiskott-Aldrich syndrome-like
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal synaptic transmission (MP:0003635) 65 genes

ADD2
adducin 2 (beta)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
BAIAP2
BAI1-associated protein 2
BCAN
brevican
BSN
bassoon (presynaptic cytomatrix protein)
CACNA2D1
calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CKMT1B
creatine kinase, mitochondrial 1B
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG2
discs, large homolog 2 (Drosophila)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
ERC2
ELKS/RAB6-interacting/CAST family member 2
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
ICAM5
intercellular adhesion molecule 5, telencephalin
LPHN1
latrophilin 1
LYNX1
Ly6/neurotoxin 1
MAPK3
mitogen-activated protein kinase 3
MBP
myelin basic protein
NCAN
neurocan
NRXN1
neurexin 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
RAB3A
RAB3A, member RAS oncogene family
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SNAP25
synaptosomal-associated protein, 25kDa
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
STXBP1
syntaxin binding protein 1
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
UNC13A
unc-13 homolog A (C. elegans)
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
WASF1
WAS protein family, member 1

Abnormal cns synaptic transmission (MP:0002206) 59 genes

ADD2
adducin 2 (beta)
BAIAP2
BAI1-associated protein 2
BCAN
brevican
BSN
bassoon (presynaptic cytomatrix protein)
CACNA2D1
calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CKMT1B
creatine kinase, mitochondrial 1B
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG2
discs, large homolog 2 (Drosophila)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
ERC2
ELKS/RAB6-interacting/CAST family member 2
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
ICAM5
intercellular adhesion molecule 5, telencephalin
LYNX1
Ly6/neurotoxin 1
MAPK3
mitogen-activated protein kinase 3
MBP
myelin basic protein
NCAN
neurocan
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
RAB3A
RAB3A, member RAS oncogene family
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SNAP25
synaptosomal-associated protein, 25kDa
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
UNC13A
unc-13 homolog A (C. elegans)
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
WASF1
WAS protein family, member 1

Abnormal learning/memory/conditioning (MP:0002063) 57 genes

ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AMPH
amphiphysin
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
BAIAP2
BAI1-associated protein 2
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HOMER1
homer homolog 1 (Drosophila)
ICAM5
intercellular adhesion molecule 5, telencephalin
L1CAM
L1 cell adhesion molecule
LSAMP
limbic system-associated membrane protein
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
NCAM1
neural cell adhesion molecule 1
OPA1
optic atrophy 1 (autosomal dominant)
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
STX1A
syntaxin 1A (brain)
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TUBA1A
tubulin, alpha 1a
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
VIM
vimentin
WASF1
WAS protein family, member 1

Behavior/neurological phenotype (MP:0005386) 137 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
AMPH
amphiphysin
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
AQP4
aquaporin 4
ARHGDIA
Rho GDP dissociation inhibitor (GDI) alpha
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
ATP2B4
ATPase, Ca++ transporting, plasma membrane 4
BAIAP2
BAI1-associated protein 2
BASP1
brain abundant, membrane attached signal protein 1
BIN1
bridging integrator 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTN2
contactin 2 (axonal)
CNTNAP1
contactin associated protein 1
CRMP1
collapsin response mediator protein 1
CRYAB
crystallin, alpha B
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DCTN1
dynactin 1
DLG1
discs, large homolog 1 (Drosophila)
DLG2
discs, large homolog 2 (Drosophila)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GNAI2
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HOMER1
homer homolog 1 (Drosophila)
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
ICAM5
intercellular adhesion molecule 5, telencephalin
KIF1A
kinesin family member 1A
KIF2A
kinesin heavy chain member 2A
KLC1
kinesin light chain 1
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
LPHN1
latrophilin 1
LSAMP
limbic system-associated membrane protein
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NPEPPS
aminopeptidase puromycin sensitive
NRCAM
neuronal cell adhesion molecule
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PURA
purine-rich element binding protein A
RAB3A
RAB3A, member RAS oncogene family
RAB6B
RAB6B, member RAS oncogene family
RGS7
regulator of G-protein signaling 7
RIMS1
regulating synaptic membrane exocytosis 1
RYR2
ryanodine receptor 2 (cardiac)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
SYN1
synapsin I
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal behavior (MP:0004924) 137 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
AMPH
amphiphysin
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
AQP4
aquaporin 4
ARHGDIA
Rho GDP dissociation inhibitor (GDI) alpha
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
ATP2B4
ATPase, Ca++ transporting, plasma membrane 4
BAIAP2
BAI1-associated protein 2
BASP1
brain abundant, membrane attached signal protein 1
BIN1
bridging integrator 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTN2
contactin 2 (axonal)
CNTNAP1
contactin associated protein 1
CRMP1
collapsin response mediator protein 1
CRYAB
crystallin, alpha B
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DCTN1
dynactin 1
DLG1
discs, large homolog 1 (Drosophila)
DLG2
discs, large homolog 2 (Drosophila)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GNAI2
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HOMER1
homer homolog 1 (Drosophila)
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
ICAM5
intercellular adhesion molecule 5, telencephalin
KIF1A
kinesin family member 1A
KIF2A
kinesin heavy chain member 2A
KLC1
kinesin light chain 1
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
LPHN1
latrophilin 1
LSAMP
limbic system-associated membrane protein
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NPEPPS
aminopeptidase puromycin sensitive
NRCAM
neuronal cell adhesion molecule
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PURA
purine-rich element binding protein A
RAB3A
RAB3A, member RAS oncogene family
RAB6B
RAB6B, member RAS oncogene family
RGS7
regulator of G-protein signaling 7
RIMS1
regulating synaptic membrane exocytosis 1
RYR2
ryanodine receptor 2 (cardiac)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
SYN1
synapsin I
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
VIM
vimentin
WASF1
WAS protein family, member 1
ADD2
adducin 2 (beta)
BAIAP2
BAI1-associated protein 2
BCAN
brevican
BSN
bassoon (presynaptic cytomatrix protein)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CRMP1
collapsin response mediator protein 1
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
ICAM5
intercellular adhesion molecule 5, telencephalin
LYNX1
Ly6/neurotoxin 1
MAPK3
mitogen-activated protein kinase 3
NCAN
neurocan
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
RAB3A
RAB3A, member RAS oncogene family
RIMS1
regulating synaptic membrane exocytosis 1
SNAP25
synaptosomal-associated protein, 25kDa
STX1A
syntaxin 1A (brain)
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
SYT1
synaptotagmin I
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
WASF1
WAS protein family, member 1

Abnormal nervous system morphology (MP:0003632) 125 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
ADD1
adducin 1 (alpha)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CFL1
cofilin 1 (non-muscle)
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTN2
contactin 2 (axonal)
CNTNAP1
contactin associated protein 1
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DCTN1
dynactin 1
DLG2
discs, large homolog 2 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
DPYSL4
dihydropyrimidinase-like 4
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GJA1
gap junction protein, alpha 1, 43kDa
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF1A
kinesin family member 1A
KIF2A
kinesin heavy chain member 2A
KIF5A
kinesin family member 5A
KIF5C
kinesin family member 5C
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
LMO7
LIM domain 7
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
MARK2
MAP/microtubule affinity-regulating kinase 2
MBP
myelin basic protein
MLLT4
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MYH10
myosin, heavy chain 10, non-muscle
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
NCKAP1
NCK-associated protein 1
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
NME1
non-metastatic cells 1, protein (NM23A) expressed in
NRCAM
neuronal cell adhesion molecule
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PEA15
phosphoprotein enriched in astrocytes 15
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PLXNA1
plexin A1
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PRPH
peripherin
PTPN11
protein tyrosine phosphatase, non-receptor type 11
PTPRS
protein tyrosine phosphatase, receptor type, S
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PURA
purine-rich element binding protein A
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
RIMS1
regulating synaptic membrane exocytosis 1
RTN4
reticulon 4
SCRIB
scribbled homolog (Drosophila)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
SPTBN1
spectrin, beta, non-erythrocytic 1
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TFAM
transcription factor A, mitochondrial
TNR
tenascin R (restrictin, janusin)
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VCL
vinculin
VIM
vimentin
WASF1
WAS protein family, member 1
WASL
Wiskott-Aldrich syndrome-like
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal cerebrum morphology (MP:0008540) 48 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CLIP2
CAP-GLY domain containing linker protein 2
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PURA
purine-rich element binding protein A
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
WASF1
WAS protein family, member 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal learning/ memory (MP:0001449) 47 genes

ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AMPH
amphiphysin
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
BAIAP2
BAI1-associated protein 2
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CRMP1
collapsin response mediator protein 1
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
ICAM5
intercellular adhesion molecule 5, telencephalin
L1CAM
L1 cell adhesion molecule
LSAMP
limbic system-associated membrane protein
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
NCAM1
neural cell adhesion molecule 1
OPA1
optic atrophy 1 (autosomal dominant)
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TUBA1A
tubulin, alpha 1a
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal telencephalon morphology (MP:0000787) 56 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CLIP2
CAP-GLY domain containing linker protein 2
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PTPRS
protein tyrosine phosphatase, receptor type, S
PURA
purine-rich element binding protein A
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
WASF1
WAS protein family, member 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal neuron morphology (MP:0002882) 76 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CNTN2
contactin 2 (axonal)
CNTNAP1
contactin associated protein 1
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DCTN1
dynactin 1
DLG4
discs, large homolog 4 (Drosophila)
DNM1
dynamin 1
DPYSL4
dihydropyrimidinase-like 4
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GDI1
GDP dissociation inhibitor 1
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF1A
kinesin family member 1A
KIF2A
kinesin heavy chain member 2A
KIF5A
kinesin family member 5A
KIF5C
kinesin family member 5C
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
NRCAM
neuronal cell adhesion molecule
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1
proteolipid protein 1
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRPH
peripherin
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SPTBN4
spectrin, beta, non-erythrocytic 4
SYN1
synapsin I
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal temporal lobe morphology (MP:0000801) 36 genes

ABI2
abl-interactor 2
APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
NCAM1
neural cell adhesion molecule 1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PURA
purine-rich element binding protein A
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal brain morphology (MP:0002152) 83 genes

AARS
alanyl-tRNA synthetase
ABI2
abl-interactor 2
ADD1
adducin 1 (alpha)
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CLIP2
CAP-GLY domain containing linker protein 2
CNTN1
contactin 1
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF2A
kinesin heavy chain member 2A
KIF5C
kinesin family member 5C
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
MARK2
MAP/microtubule affinity-regulating kinase 2
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
NRCAM
neuronal cell adhesion molecule
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PTPRS
protein tyrosine phosphatase, receptor type, S
PURA
purine-rich element binding protein A
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
RIMS1
regulating synaptic membrane exocytosis 1
SCRIB
scribbled homolog (Drosophila)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN1
spectrin, beta, non-erythrocytic 1
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TNR
tenascin R (restrictin, janusin)
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCL
vinculin
VIM
vimentin
WASF1
WAS protein family, member 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal motor capabilities/coordination/movement (MP:0002066) 91 gene

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
ARHGDIA
Rho GDP dissociation inhibitor (GDI) alpha
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
ATP2B4
ATPase, Ca++ transporting, plasma membrane 4
BASP1
brain abundant, membrane attached signal protein 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKMT1B
creatine kinase, mitochondrial 1B
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CRYAB
crystallin, alpha B
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DCTN1
dynactin 1
DLG3
discs, large homolog 3 (Drosophila)
DNM1
dynamin 1
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
KLC1
kinesin light chain 1
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NPEPPS
aminopeptidase puromycin sensitive
NRCAM
neuronal cell adhesion molecule
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
PURA
purine-rich element binding protein A
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A
unc-13 homolog A (C. elegans)
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal hippocampus morphology (MP:0000807) 34 genes

ABI2
abl-interactor 2
APOE
apolipoprotein E
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
NCAM1
neural cell adhesion molecule 1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PURA
purine-rich element binding protein A
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal forebrain morphology (MP:0000783) 60 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CLIP2
CAP-GLY domain containing linker protein 2
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
MARK2
MAP/microtubule affinity-regulating kinase 2
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
OPA1
optic atrophy 1 (autosomal dominant)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PTPRS
protein tyrosine phosphatase, receptor type, S
PURA
purine-rich element binding protein A
RIMS1
regulating synaptic membrane exocytosis 1
SCRIB
scribbled homolog (Drosophila)
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
WASF1
WAS protein family, member 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal motor coordination/ balance (MP:0001516) 56 genes

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CIT
citron (rho-interacting, serine/threonine kinase 21)
CLIP2
CAP-GLY domain containing linker protein 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
KLC1
kinesin light chain 1
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NRCAM
neuronal cell adhesion molecule
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNJ1
synaptojanin 1
TNC
tenascin C
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal long term potentiation (MP:0002207) 29 genes

ADD2
adducin 2 (beta)
BAIAP2
BAI1-associated protein 2
BCAN
brevican
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CRMP1
collapsin response mediator protein 1
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GFAP
glial fibrillary acidic protein
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
ICAM5
intercellular adhesion molecule 5, telencephalin
MAPK3
mitogen-activated protein kinase 3
NCAN
neurocan
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
RIMS1
regulating synaptic membrane exocytosis 1
STX1A
syntaxin 1A (brain)
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
VDAC1
voltage-dependent anion channel 1
WASF1
WAS protein family, member 1

Abnormal limbic system morphology (MP:0004166) 35 genes

ABI2
abl-interactor 2
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
BASP1
brain abundant, membrane attached signal protein 1
BCAN
brevican
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CRMP1
collapsin response mediator protein 1
CST3
cystatin C
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
NCAM1
neural cell adhesion molecule 1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA4A
plexin A4
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PPP3CA
protein phosphatase 3, catalytic subunit, alpha isozyme
PURA
purine-rich element binding protein A
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal neurite morphology (MP:0008415) 25 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
BASP1
brain abundant, membrane attached signal protein 1
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CNTNAP1
contactin associated protein 1
DCLK1
doublecortin-like kinase 1
DST
dystonin
GAP43
growth associated protein 43
GRIA1
glutamate receptor, ionotropic, AMPA 1
KIF2A
kinesin heavy chain member 2A
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
NRCAM
neuronal cell adhesion molecule
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1
proteolipid protein 1
PRPH
peripherin
SHANK1
SH3 and multiple ankyrin repeat domains 1
SPTBN4
spectrin, beta, non-erythrocytic 4
TRIM2
tripartite motif-containing 2

Seizures (MP:0002064) 37 genes

AMPH
amphiphysin
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOE
apolipoprotein E
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN2
contactin 2 (axonal)
DBNL
drebrin-like
DST
dystonin
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GFAP
glial fibrillary acidic protein
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAPT
microtubule-associated protein tau
MYO5A
myosin VA (heavy chain 12, myoxin)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PURA
purine-rich element binding protein A
RYR2
ryanodine receptor 2 (cardiac)
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
STX1B
syntaxin 1B
SYN1
synapsin I
SYN2
synapsin II
SYNJ1
synaptojanin 1
TRIM2
tripartite motif-containing 2
ADD2
adducin 2 (beta)
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CKMT1B
creatine kinase, mitochondrial 1B
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG2
discs, large homolog 2 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DNM1
dynamin 1
ERC2
ELKS/RAB6-interacting/CAST family member 2
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
LPHN1
latrophilin 1
NRXN1
neurexin 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
RIMS1
regulating synaptic membrane exocytosis 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SNAP25
synaptosomal-associated protein, 25kDa
STX1A
syntaxin 1A (brain)
STX1B
syntaxin 1B
STXBP1
syntaxin binding protein 1
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYT1
synaptotagmin I
UNC13A
unc-13 homolog A (C. elegans)
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)
WASF1
WAS protein family, member 1

Abnormal spatial learning (MP:0001463) 27 genes

ADD2
adducin 2 (beta)
AMPH
amphiphysin
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
BAIAP2
BAI1-associated protein 2
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
CRMP1
collapsin response mediator protein 1
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DLG3
discs, large homolog 3 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
FYN
FYN oncogene related to SRC, FGR, YES
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
L1CAM
L1 cell adhesion molecule
NCAM1
neural cell adhesion molecule 1
PRKCG
protein kinase C, gamma
PTPRD
protein tyrosine phosphatase, receptor type, D
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
VDAC1
voltage-dependent anion channel 1
WASF1
WAS protein family, member 1

Abnormal voluntary movement (MP:0003491) 72 genes

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKMT1B
creatine kinase, mitochondrial 1B
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DBNL
drebrin-like
DCTN1
dynactin 1
DLG3
discs, large homolog 3 (Drosophila)
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NPEPPS
aminopeptidase puromycin sensitive
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin

Abnormal locomotor activity (MP:0001392) 68 genes

AARS
alanyl-tRNA synthetase
ANK2
ankyrin 2, neuronal
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKMT1B
creatine kinase, mitochondrial 1B
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DBNL
drebrin-like
DCTN1
dynactin 1
DLG3
discs, large homolog 3 (Drosophila)
DST
dystonin
EPHA4
EPH receptor A4
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NPEPPS
aminopeptidase puromycin sensitive
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TRIM2
tripartite motif-containing 2
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin

Abnormal emotion/affect behavior (MP:0002572) 38 genes

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
DST
dystonin
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
L1CAM
L1 cell adhesion molecule
LSAMP
limbic system-associated membrane protein
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
NPEPPS
aminopeptidase puromycin sensitive
OPA1
optic atrophy 1 (autosomal dominant)
PRKCG
protein kinase C, gamma
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYNPO
synaptopodin
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TUBA1A
tubulin, alpha 1a
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal conditioning behavior (MP:0002062) 27 genes

ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AMPH
amphiphysin
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CLIP2
CAP-GLY domain containing linker protein 2
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GFAP
glial fibrillary acidic protein
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HOMER1
homer homolog 1 (Drosophila)
LYNX1
Ly6/neurotoxin 1
MAP2
microtubule-associated protein 2
MAPK3
mitogen-activated protein kinase 3
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PRKCG
protein kinase C, gamma
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
STX1A
syntaxin 1A (brain)
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3

Abnormal axon morphology (MP:0005404) 21 gene

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
BASP1
brain abundant, membrane attached signal protein 1
CNTNAP1
contactin associated protein 1
DCLK1
doublecortin-like kinase 1
DST
dystonin
GAP43
growth associated protein 43
KIF2A
kinesin heavy chain member 2A
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1
proteolipid protein 1
PRPH
peripherin
SPTBN4
spectrin, beta, non-erythrocytic 4
TRIM2
tripartite motif-containing 2

Abnormal cerebral cortex morphology (MP:0000788) 29 genes

ABI2
abl-interactor 2
APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
CDK5
cyclin-dependent kinase 5
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLXNA4A
plexin A4
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
STXBP3
syntaxin binding protein 3
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TUBA1A
tubulin, alpha 1a
WASF1
WAS protein family, member 1
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Convulsive seizures (MP:0000947) 21 gene

AMPH
amphiphysin
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DBNL
drebrin-like
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GRIA2
glutamate receptor, ionotropic, AMPA 2
MYO5A
myosin VA (heavy chain 12, myoxin)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PLP1
proteolipid protein 1
RYR2
ryanodine receptor 2 (cardiac)
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SYN1
synapsin I
SYN2
synapsin II
SYNJ1
synaptojanin 1

Abnormal fear/anxiety-related behavior (MP:0002065) 27 genes

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MAP2
microtubule-associated protein 2
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
NPEPPS
aminopeptidase puromycin sensitive
PRKCG
protein kinase C, gamma
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYNPO
synaptopodin
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TUBA1A
tubulin, alpha 1a
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal synaptic plasticity (MP:0004859) 11 gene

ADD2
adducin 2 (beta)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CLIP2
CAP-GLY domain containing linker protein 2
DPYSL4
dihydropyrimidinase-like 4
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
MAP6
microtubule-associated protein 6
RIMS1
regulating synaptic membrane exocytosis 1
SYNGAP1
synaptic Ras GTPase activating protein 1
TNC
tenascin C

Tremors (MP:0000745) 24 genes

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTNAP1
contactin associated protein 1
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DBNL
drebrin-like
DST
dystonin
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
PLP1
proteolipid protein 1
PURA
purine-rich element binding protein A
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
SYNGAP1
synaptic Ras GTPase activating protein 1
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
WASF1
WAS protein family, member 1

Abnormal locomotor activation (MP:0003313) 45 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
AP3B2
adaptor-related protein complex 3, beta 2 subunit
APOD
apolipoprotein D
APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CKMT1B
creatine kinase, mitochondrial 1B
CNTNAP1
contactin associated protein 1
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DLG3
discs, large homolog 3 (Drosophila)
DST
dystonin
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MAOB
monoamine oxidase B
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MYO6
myosin VI
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TUBA1A
tubulin, alpha 1a
VIM
vimentin

Impaired synaptic plasticity (MP:0001900) 10 genes

ADD2
adducin 2 (beta)
CLIP2
CAP-GLY domain containing linker protein 2
DPYSL4
dihydropyrimidinase-like 4
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
MAP6
microtubule-associated protein 6
RIMS1
regulating synaptic membrane exocytosis 1
SYNGAP1
synaptic Ras GTPase activating protein 1
TNC
tenascin C

Abnormal hippocampal laminar structure (MP:0000813) 10 genes

ABI2
abl-interactor 2
CDK5
cyclin-dependent kinase 5
CTNNA2
catenin (cadherin-associated protein), alpha 2
DPYSL4
dihydropyrimidinase-like 4
FYN
FYN oncogene related to SRC, FGR, YES
KIF2A
kinesin heavy chain member 2A
NCAM1
neural cell adhesion molecule 1
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal involuntary movement (MP:0003492) 35 genes

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKMT1B
creatine kinase, mitochondrial 1B
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DBNL
drebrin-like
DST
dystonin
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
PLP1
proteolipid protein 1
PURA
purine-rich element binding protein A
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
SYNGAP1
synaptic Ras GTPase activating protein 1
TMOD2
tropomodulin 2 (neuronal)
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
WASF1
WAS protein family, member 1

Reduced long term potentiation (MP:0001473) 15 genes

ADD2
adducin 2 (beta)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DPYSL4
dihydropyrimidinase-like 4
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAPK3
mitogen-activated protein kinase 3
PRKCG
protein kinase C, gamma
RIMS1
regulating synaptic membrane exocytosis 1
STX1A
syntaxin 1A (brain)
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNPO
synaptopodin
TNC
tenascin C
VDAC1
voltage-dependent anion channel 1

Ataxia (MP:0001393) 23 genes

AARS
alanyl-tRNA synthetase
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DST
dystonin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
PLP1
proteolipid protein 1
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNJ1
synaptojanin 1
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal neuron physiology (MP:0004811) 15 genes

AMPH
amphiphysin
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CADPS
Ca++-dependent secretion activator
DBNL
drebrin-like
DNM1
dynamin 1
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
ITSN1
intersectin 1 (SH3 domain protein)
KIF1A
kinesin family member 1A
NEFM
neurofilament, medium polypeptide
STX1B
syntaxin 1B
SYN1
synapsin I
UNC13A
unc-13 homolog A (C. elegans)
WASF1
WAS protein family, member 1

Abnormal anxiety-related response (MP:0001362) 21 gene

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
L1CAM
L1 cell adhesion molecule
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
NPEPPS
aminopeptidase puromycin sensitive
PRKCG
protein kinase C, gamma
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
SYNPO
synaptopodin
TNC
tenascin C
TUBA1A
tubulin, alpha 1a
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal pyramidal neuron morphology (MP:0005442) 12 genes

ABI2
abl-interactor 2
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DLG4
discs, large homolog 4 (Drosophila)
DPYSL4
dihydropyrimidinase-like 4
FYN
FYN oncogene related to SRC, FGR, YES
MAPT
microtubule-associated protein tau
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
SHANK1
SH3 and multiple ankyrin repeat domains 1
SYN1
synapsin I
SYNGAP1
synaptic Ras GTPase activating protein 1
TUBA1A
tubulin, alpha 1a

Abnormal excitatory postsynaptic currents (MP:0002910) 12 genes

CADPS
Ca++-dependent secretion activator
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLG2
discs, large homolog 2 (Drosophila)
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
RIMS1
regulating synaptic membrane exocytosis 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
STX1B
syntaxin 1B
SYN3
synapsin III
SYNGAP1
synaptic Ras GTPase activating protein 1
SYT1
synaptotagmin I
UNC13A
unc-13 homolog A (C. elegans)

Induced seizures (MP:0009357) 18 genes

AMPH
amphiphysin
APOE
apolipoprotein E
BSN
bassoon (presynaptic cytomatrix protein)
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CNTN2
contactin 2 (axonal)
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GFAP
glial fibrillary acidic protein
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAPT
microtubule-associated protein tau
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
RYR2
ryanodine receptor 2 (cardiac)
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SYN1
synapsin I

Abnormal cerebellum morphology (MP:0000849) 24 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
FKBP8
FK506 binding protein 8, 38kDa
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAP2
microtubule-associated protein 2
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NRCAM
neuronal cell adhesion molecule
PHGDH
phosphoglycerate dehydrogenase
PURA
purine-rich element binding protein A
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SPTBN4
spectrin, beta, non-erythrocytic 4
TRIM2
tripartite motif-containing 2
VIM
vimentin

Abnormal suckling behavior (MP:0001436) 17 genes

BIN1
bridging integrator 1
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
DLG1
discs, large homolog 1 (Drosophila)
DNM1
dynamin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GJA1
gap junction protein, alpha 1, 43kDa
GNAS
GNAS complex locus
GPHN
gephyrin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF2A
kinesin heavy chain member 2A
MYH10
myosin, heavy chain 10, non-muscle
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SYNGAP1
synaptic Ras GTPase activating protein 1
SYT1
synaptotagmin I

Abnormal locomotor coordination (MP:0003312) 33 genes

AARS
alanyl-tRNA synthetase
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DBNL
drebrin-like
DCTN1
dynactin 1
DST
dystonin
EPHA4
EPH receptor A4
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HSD17B4
hydroxysteroid (17-beta) dehydrogenase 4
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
MAPT
microtubule-associated protein tau
MBP
myelin basic protein
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NPEPPS
aminopeptidase puromycin sensitive
PLP1
proteolipid protein 1
PTPRD
protein tyrosine phosphatase, receptor type, D
SPTBN4
spectrin, beta, non-erythrocytic 4
STX1B
syntaxin 1B
SYNJ1
synaptojanin 1
TNC
tenascin C
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal axon outgrowth (MP:0003651) 10 genes

BASP1
brain abundant, membrane attached signal protein 1
GPHN
gephyrin
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
NEFH
neurofilament, heavy polypeptide
PTPRS
protein tyrosine phosphatase, receptor type, S
RTN4
reticulon 4
SYN3
synapsin III

Abnormal synaptic depression (MP:0002915) 13 genes

BSN
bassoon (presynaptic cytomatrix protein)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
RAB3A
RAB3A, member RAS oncogene family
RIMS1
regulating synaptic membrane exocytosis 1
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNJ1
synaptojanin 1
SYT1
synaptotagmin I
WASF1
WAS protein family, member 1

Abnormal spinal cord morphology (MP:0000955) 21 gene

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDK5
cyclin-dependent kinase 5
CNTN2
contactin 2 (axonal)
DCTN1
dynactin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF5A
kinesin family member 5A
KIF5C
kinesin family member 5C
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NEFH
neurofilament, heavy polypeptide
NEFM
neurofilament, medium polypeptide
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Impaired balance (MP:0001525) 20 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK2
ankyrin 2, neuronal
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CNTNAP1
contactin associated protein 1
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DST
dystonin
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
KIF1A
kinesin family member 1A
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
MYH10
myosin, heavy chain 10, non-muscle
MYO5A
myosin VA (heavy chain 12, myoxin)
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
SPTBN4
spectrin, beta, non-erythrocytic 4
VIM
vimentin
WASF1
WAS protein family, member 1

Impaired coordination (MP:0001405) 24 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CLIP2
CAP-GLY domain containing linker protein 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
DBNL
drebrin-like
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KLC1
kinesin light chain 1
L1CAM
L1 cell adhesion molecule
MYH10
myosin, heavy chain 10, non-muscle
NRCAM
neuronal cell adhesion molecule
PLP1
proteolipid protein 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin
WASF1
WAS protein family, member 1

Abnormal temporal memory (MP:0001468) 13 genes

ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AMPH
amphiphysin
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CLIP2
CAP-GLY domain containing linker protein 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
MAP2
microtubule-associated protein 2
MAPT
microtubule-associated protein tau
PRKCG
protein kinase C, gamma
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
TMOD2
tropomodulin 2 (neuronal)
VDAC3
voltage-dependent anion channel 3

Pharmacologically induced seizures (MP:0000950) 15 genes

AMPH
amphiphysin
BSN
bassoon (presynaptic cytomatrix protein)
CIT
citron (rho-interacting, serine/threonine kinase 21)
CKB
creatine kinase, brain
CNTN2
contactin 2 (axonal)
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GFAP
glial fibrillary acidic protein
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAPT
microtubule-associated protein tau
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
RYR2
ryanodine receptor 2 (cardiac)
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal neurogenesis (MP:0006008) 21 gene

BASP1
brain abundant, membrane attached signal protein 1
CFL1
cofilin 1 (non-muscle)
CRMP1
collapsin response mediator protein 1
DCLK1
doublecortin-like kinase 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
GPHN
gephyrin
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
MYH10
myosin, heavy chain 10, non-muscle
NCAM1
neural cell adhesion molecule 1
NEFH
neurofilament, heavy polypeptide
PHGDH
phosphoglycerate dehydrogenase
PLXNA4A
plexin A4
PTPRS
protein tyrosine phosphatase, receptor type, S
RTN4
reticulon 4
SYN3
synapsin III
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal paired-pulse facilitation (MP:0002918) 10 genes

ADD2
adducin 2 (beta)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLG4
discs, large homolog 4 (Drosophila)
GDI1
GDP dissociation inhibitor 1
LYNX1
Ly6/neurotoxin 1
PTPRD
protein tyrosine phosphatase, receptor type, D
RIMS1
regulating synaptic membrane exocytosis 1
SNAP25
synaptosomal-associated protein, 25kDa
SYN1
synapsin I
VDAC3
voltage-dependent anion channel 3

Abnormal somatic nervous system morphology (MP:0002752) 41 gene

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK2
ankyrin 2, neuronal
APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CDK5
cyclin-dependent kinase 5
CNTN2
contactin 2 (axonal)
DCTN1
dynactin 1
DST
dystonin
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GNPAT
glyceronephosphate O-acyltransferase
GPHN
gephyrin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF5C
kinesin family member 5C
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
MYH10
myosin, heavy chain 10, non-muscle
MYO6
myosin VI
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
OPA1
optic atrophy 1 (autosomal dominant)
PLP1
proteolipid protein 1
PLXNA4A
plexin A4
PRPH
peripherin
SCRIB
scribbled homolog (Drosophila)
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
SPTBN4
spectrin, beta, non-erythrocytic 4
TFAM
transcription factor A, mitochondrial
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCL
vinculin

Abnormal cued conditioning behavior (MP:0001454) 11 gene

ADD2
adducin 2 (beta)
AMPH
amphiphysin
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CTNNA2
catenin (cadherin-associated protein), alpha 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
GDI1
GDP dissociation inhibitor 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
LYNX1
Ly6/neurotoxin 1
STX1A
syntaxin 1A (brain)
VDAC1
voltage-dependent anion channel 1
VDAC3
voltage-dependent anion channel 3

Hyperactivity (MP:0001399) 20 genes

AP3B2
adaptor-related protein complex 3, beta 2 subunit
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
BASP1
brain abundant, membrane attached signal protein 1
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOB
monoamine oxidase B
MAP6
microtubule-associated protein 6
MAPK3
mitogen-activated protein kinase 3
MYO6
myosin VI
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
SNAP25
synaptosomal-associated protein, 25kDa
TMOD2
tropomodulin 2 (neuronal)
TNC
tenascin C
TOM1L2
target of myb1-like 2 (chicken)
TUBA1A
tubulin, alpha 1a
VIM
vimentin

Abnormal sensory capabilities/reflexes/nociception (MP:0002067) 33 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CDK5
cyclin-dependent kinase 5
CKMT1B
creatine kinase, mitochondrial 1B
CTNNA2
catenin (cadherin-associated protein), alpha 2
DBNL
drebrin-like
DLG2
discs, large homolog 2 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DST
dystonin
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GPHN
gephyrin
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
MAOA
monoamine oxidase A
MYO6
myosin VI
NPEPPS
aminopeptidase puromycin sensitive
PRKCG
protein kinase C, gamma
SNAP25
synaptosomal-associated protein, 25kDa
SPTBN4
spectrin, beta, non-erythrocytic 4
TMOD2
tropomodulin 2 (neuronal)
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Addiction/drug abuse (MP:0002568) 12 genes

AQP4
aquaporin 4
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
FYN
FYN oncogene related to SRC, FGR, YES
GNAS
GNAS complex locus
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HOMER1
homer homolog 1 (Drosophila)
LYNX1
Ly6/neurotoxin 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCG
protein kinase C, gamma

Abnormal contextual conditioning (MP:0001469) 12 genes

ABI2
abl-interactor 2
ADD2
adducin 2 (beta)
AMPH
amphiphysin
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CAMKK1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
CLIP2
CAP-GLY domain containing linker protein 2
CTNND2
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
MAP2
microtubule-associated protein 2
PRKCG
protein kinase C, gamma
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
TMOD2
tropomodulin 2 (neuronal)
VDAC3
voltage-dependent anion channel 3

Abnormal hindbrain morphology (MP:0000841) 25 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
FKBP8
FK506 binding protein 8, 38kDa
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAP2
microtubule-associated protein 2
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NRCAM
neuronal cell adhesion molecule
PHGDH
phosphoglycerate dehydrogenase
PURA
purine-rich element binding protein A
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SPTBN4
spectrin, beta, non-erythrocytic 4
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin

Abnormal motor neuron morphology (MP:0000937) 14 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CDK5
cyclin-dependent kinase 5
DCTN1
dynactin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
GPHN
gephyrin
KIF5A
kinesin family member 5A
KIF5C
kinesin family member 5C
MAOA
monoamine oxidase A
NEFH
neurofilament, heavy polypeptide
NEFM
neurofilament, medium polypeptide
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal Ammon gyrus morphology (MP:0000815) 8 genes

ABI2
abl-interactor 2
DPYSL4
dihydropyrimidinase-like 4
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
NCAM1
neural cell adhesion molecule 1
SNAP25
synaptosomal-associated protein, 25kDa
TNR
tenascin R (restrictin, janusin)
TUBA1A
tubulin, alpha 1a

Abnormal touch/ nociception (MP:0001968) 19 genes

APOE
apolipoprotein E
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CDK5
cyclin-dependent kinase 5
DLG2
discs, large homolog 2 (Drosophila)
DLG4
discs, large homolog 4 (Drosophila)
DST
dystonin
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
NPEPPS
aminopeptidase puromycin sensitive
PRKCG
protein kinase C, gamma
SNAP25
synaptosomal-associated protein, 25kDa
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Neurodegeneration (MP:0002229) 23 genes

AARS
alanyl-tRNA synthetase
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DCTN1
dynactin 1
DST
dystonin
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GPHN
gephyrin
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF1A
kinesin family member 1A
LYNX1
Ly6/neurotoxin 1
MYO6
myosin VI
PLP1
proteolipid protein 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP1
syntaxin binding protein 1
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin

Impaired righting response (MP:0001523) 12 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DST
dystonin
GNAS
GNAS complex locus
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MYO5A
myosin VA (heavy chain 12, myoxin)
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Axon degeneration (MP:0005405) 9 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DST
dystonin
KIF1A
kinesin family member 1A
LYNX1
Ly6/neurotoxin 1
PLP1
proteolipid protein 1
SPTBN4
spectrin, beta, non-erythrocytic 4
STXBP1
syntaxin binding protein 1
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal glutamate-mediated receptor currents (MP:0002886) 8 genes

DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
WASF1
WAS protein family, member 1

Abnormal neurotransmitter level (MP:0002204) 10 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ERC2
ELKS/RAB6-interacting/CAST family member 2
GDI1
GDP dissociation inhibitor 1
LPHN1
latrophilin 1
NRXN1
neurexin 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
STXBP1
syntaxin binding protein 1
SYN1
synapsin I
SYT1
synaptotagmin I
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)

Abnormal social/conspecific interaction (MP:0002557) 21 gene

APOE
apolipoprotein E
CTNNA2
catenin (cadherin-associated protein), alpha 2
DST
dystonin
EPHA4
EPH receptor A4
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GDI1
GDP dissociation inhibitor 1
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
L1CAM
L1 cell adhesion molecule
LPHN1
latrophilin 1
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
NPEPPS
aminopeptidase puromycin sensitive
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1
SPTBN4
spectrin, beta, non-erythrocytic 4
TUBA1A
tubulin, alpha 1a

Abnormal nervous system development (MP:0003861) 43 genes

ADD1
adducin 1 (alpha)
BASP1
brain abundant, membrane attached signal protein 1
CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CFL1
cofilin 1 (non-muscle)
CRMP1
collapsin response mediator protein 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
DCLK1
doublecortin-like kinase 1
DCTN1
dynactin 1
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
GJA1
gap junction protein, alpha 1, 43kDa
GPHN
gephyrin
KIF2A
kinesin heavy chain member 2A
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
MAP1B
microtubule-associated protein 1B
MAPT
microtubule-associated protein tau
MLLT4
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1
neural cell adhesion molecule 1
NCKAP1
NCK-associated protein 1
NEFH
neurofilament, heavy polypeptide
OPA1
optic atrophy 1 (autosomal dominant)
PHGDH
phosphoglycerate dehydrogenase
PLXNA4A
plexin A4
PTPN11
protein tyrosine phosphatase, non-receptor type 11
PTPRS
protein tyrosine phosphatase, receptor type, S
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
RTN4
reticulon 4
SCRIB
scribbled homolog (Drosophila)
SPTBN1
spectrin, beta, non-erythrocytic 1
SYN1
synapsin I
SYN2
synapsin II
SYN3
synapsin III
SYNPO
synaptopodin
TOM1L2
target of myb1-like 2 (chicken)
TUBA1A
tubulin, alpha 1a
VCL
vinculin
WASL
Wiskott-Aldrich syndrome-like
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Abnormal excitatory postsynaptic potential (MP:0002912) 10 genes

CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLG2
discs, large homolog 2 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
FYN
FYN oncogene related to SRC, FGR, YES
GDI1
GDP dissociation inhibitor 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
RIMS1
regulating synaptic membrane exocytosis 1
STX1A
syntaxin 1A (brain)
SYN1
synapsin I
WASF1
WAS protein family, member 1

Abnormal response to addictive substance (MP:0002552) 10 genes

AQP4
aquaporin 4
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
FYN
FYN oncogene related to SRC, FGR, YES
GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
HOMER1
homer homolog 1 (Drosophila)
LYNX1
Ly6/neurotoxin 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCG
protein kinase C, gamma

Altered righting response (MP:0002862) 12 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DST
dystonin
GNAS
GNAS complex locus
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MYO5A
myosin VA (heavy chain 12, myoxin)
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal physical strength (MP:0004262) 15 genes

ARHGDIA
Rho GDP dissociation inhibitor (GDI) alpha
CDK5
cyclin-dependent kinase 5
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
GNAS
GNAS complex locus
GRIA2
glutamate receptor, ionotropic, AMPA 2
L1CAM
L1 cell adhesion molecule
PLP1
proteolipid protein 1
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
TNC
tenascin C
UNC13A
unc-13 homolog A (C. elegans)
WASF1
WAS protein family, member 1

Abnormal nervous system electrophysiology (MP:0002272) 18 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CNTNAP1
contactin associated protein 1
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GPHN
gephyrin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSN
gelsolin
MAOA
monoamine oxidase A
MAP1B
microtubule-associated protein 1B
MYO6
myosin VI
NFASC
neurofascin
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1
proteolipid protein 1
RYR2
ryanodine receptor 2 (cardiac)
TNR
tenascin R (restrictin, janusin)

Weakness (MP:0000746) 11 gene

ARHGDIA
Rho GDP dissociation inhibitor (GDI) alpha
CDK5
cyclin-dependent kinase 5
CNTN1
contactin 1
CNTNAP1
contactin associated protein 1
GNAS
GNAS complex locus
GRIA2
glutamate receptor, ionotropic, AMPA 2
PLP1
proteolipid protein 1
SYNGAP1
synaptic Ras GTPase activating protein 1
SYNJ1
synaptojanin 1
UNC13A
unc-13 homolog A (C. elegans)
WASF1
WAS protein family, member 1

Abnormal fear-related response (MP:0003106) 7 genes

FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
MAOA
monoamine oxidase A
MAP2
microtubule-associated protein 2
SHANK1
SH3 and multiple ankyrin repeat domains 1
TNC
tenascin C

Abnormal response to novelty (MP:0003107) 13 genes

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
LSAMP
limbic system-associated membrane protein
MAP1B
microtubule-associated protein 1B
OPA1
optic atrophy 1 (autosomal dominant)
RGS7
regulator of G-protein signaling 7
TNC
tenascin C
WASF1
WAS protein family, member 1

Abnormal brain size (MP:0000771) 13 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
KIF5C
kinesin family member 5C
MARK2
MAP/microtubule affinity-regulating kinase 2
NCAM1
neural cell adhesion molecule 1
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PHGDH
phosphoglycerate dehydrogenase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PTPRS
protein tyrosine phosphatase, receptor type, S
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
VCL
vinculin
WASF1
WAS protein family, member 1

Abnormal optic nerve morphology (MP:0001330) 9 genes

ANK2
ankyrin 2, neuronal
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GNPAT
glyceronephosphate O-acyltransferase
OPA1
optic atrophy 1 (autosomal dominant)
PLP1
proteolipid protein 1
SCRIB
scribbled homolog (Drosophila)
SPTBN4
spectrin, beta, non-erythrocytic 4
TFAM
transcription factor A, mitochondrial

Abnormal neurotransmitter secretion (MP:0005445) 8 genes

GDI1
GDP dissociation inhibitor 1
LPHN1
latrophilin 1
NRXN1
neurexin 1
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
STXBP1
syntaxin binding protein 1
SYN1
synapsin I
SYT1
synaptotagmin I
VAMP2
vesicle-associated membrane protein 2 (synaptobrevin 2)

Abnormal cranial nerve morphology (MP:0001056) 15 genes

ANK2
ankyrin 2, neuronal
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CDK5
cyclin-dependent kinase 5
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
GNPAT
glyceronephosphate O-acyltransferase
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MYH10
myosin, heavy chain 10, non-muscle
OPA1
optic atrophy 1 (autosomal dominant)
PLP1
proteolipid protein 1
PLXNA4A
plexin A4
SCRIB
scribbled homolog (Drosophila)
SPTBN4
spectrin, beta, non-erythrocytic 4
TFAM
transcription factor A, mitochondrial
VCL
vinculin

Abnormal tract (MP:0000778) 12 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
CLIP2
CAP-GLY domain containing linker protein 2
DCLK1
doublecortin-like kinase 1
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
L1CAM
L1 cell adhesion molecule
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PLXNA4A
plexin A4

Increased anxiety-related response (MP:0001363) 12 genes

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
L1CAM
L1 cell adhesion molecule
MAP6
microtubule-associated protein 6
NPEPPS
aminopeptidase puromycin sensitive
SHANK1
SH3 and multiple ankyrin repeat domains 1
SNAP25
synaptosomal-associated protein, 25kDa
TNC
tenascin C
VIM
vimentin

Enhanced long term potentiation (MP:0003008) 7 genes

BAIAP2
BAI1-associated protein 2
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
DLG4
discs, large homolog 4 (Drosophila)
GRIA2
glutamate receptor, ionotropic, AMPA 2
ICAM5
intercellular adhesion molecule 5, telencephalin
PTPRD
protein tyrosine phosphatase, receptor type, D
WASF1
WAS protein family, member 1

Abnormal brain white matter morphology (MP:0008026) 12 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
CLIP2
CAP-GLY domain containing linker protein 2
DCLK1
doublecortin-like kinase 1
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GAP43
growth associated protein 43
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PLP1
proteolipid protein 1
PLXNA4A
plexin A4

Abnormal response to tactile stimuli (MP:0005316) 8 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CDK5
cyclin-dependent kinase 5
DLG2
discs, large homolog 2 (Drosophila)
DST
dystonin
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
SNAP25
synaptosomal-associated protein, 25kDa

Abnormal inhibitory postsynaptic currents (MP:0002945) 8 genes

DNM1
dynamin 1
ERC2
ELKS/RAB6-interacting/CAST family member 2
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
RIMS1
regulating synaptic membrane exocytosis 1
SYN1
synapsin I
SYN3
synapsin III
SYT1
synaptotagmin I

Abnormal cerebellar cortex morphology (MP:0004097) 14 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
MAP2
microtubule-associated protein 2
MYH10
myosin, heavy chain 10, non-muscle
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2
VIM
vimentin

Abnormal eating behavior (MP:0001431) 24 genes

APOE
apolipoprotein E
BIN1
bridging integrator 1
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
CNTNAP1
contactin associated protein 1
DLG1
discs, large homolog 1 (Drosophila)
DNM1
dynamin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GJA1
gap junction protein, alpha 1, 43kDa
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GPHN
gephyrin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF2A
kinesin heavy chain member 2A
MAOA
monoamine oxidase A
MYH10
myosin, heavy chain 10, non-muscle
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SYNGAP1
synaptic Ras GTPase activating protein 1
SYT1
synaptotagmin I
UNC13A
unc-13 homolog A (C. elegans)

Decreased anxiety-related response (MP:0001364) 8 genes

CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
GRIA1
glutamate receptor, ionotropic, AMPA 1
MAPT
microtubule-associated protein tau
PRKCG
protein kinase C, gamma
SYNPO
synaptopodin
TNC
tenascin C
TUBA1A
tubulin, alpha 1a
WASF1
WAS protein family, member 1

Abnormal myelin sheath morphology (MP:0003871) 6 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
APOE
apolipoprotein E
CNTNAP1
contactin associated protein 1
DST
dystonin
MBP
myelin basic protein
PLP1
proteolipid protein 1

Neuron degeneration (MP:0003224) 17 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
DCTN1
dynactin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GPHN
gephyrin
GRIA2
glutamate receptor, ionotropic, AMPA 2
KIF1A
kinesin family member 1A
LYNX1
Ly6/neurotoxin 1
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VIM
vimentin

Abnormal response to new environment (MP:0001413) 11 gene

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
CKB
creatine kinase, brain
CKMT1B
creatine kinase, mitochondrial 1B
GNAS
GNAS complex locus
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
LSAMP
limbic system-associated membrane protein
MAP1B
microtubule-associated protein 1B
OPA1
optic atrophy 1 (autosomal dominant)
RGS7
regulator of G-protein signaling 7

Abnormal myelination (MP:0000920) 11 gene

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
CNTNAP1
contactin associated protein 1
DST
dystonin
FYN
FYN oncogene related to SRC, FGR, YES
GFAP
glial fibrillary acidic protein
MAP1B
microtubule-associated protein 1B
MBP
myelin basic protein
PLP1
proteolipid protein 1
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SPTBN4
spectrin, beta, non-erythrocytic 4

Paralysis (MP:0000753) 9 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DBNL
drebrin-like
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
FKBP8
FK506 binding protein 8, 38kDa
L1CAM
L1 cell adhesion molecule
PLP1
proteolipid protein 1
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal cerebellar Purkinje cell layer (MP:0000875) 12 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
MAP2
microtubule-associated protein 2
MYH10
myosin, heavy chain 10, non-muscle
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2
VIM
vimentin

Decreased brain size (MP:0000774) 10 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
KIF5C
kinesin family member 5C
NCAM1
neural cell adhesion molecule 1
PHGDH
phosphoglycerate dehydrogenase
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
PTPRS
protein tyrosine phosphatase, receptor type, S
SYN2
synapsin II
SYNGAP1
synaptic Ras GTPase activating protein 1
VCL
vinculin
WASF1
WAS protein family, member 1

Increased susceptibility to pharmacologically induced seizures (MP:0002906) 9 genes

AMPH
amphiphysin
BSN
bassoon (presynaptic cytomatrix protein)
CIT
citron (rho-interacting, serine/threonine kinase 21)
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GFAP
glial fibrillary acidic protein
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
RYR2
ryanodine receptor 2 (cardiac)
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal brain commissure morphology (MP:0002199) 10 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
CLIP2
CAP-GLY domain containing linker protein 2
DCLK1
doublecortin-like kinase 1
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PLXNA4A
plexin A4

Abnormal eating/drinking behavior (MP:0002069) 25 genes

APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
BIN1
bridging integrator 1
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5
cyclin-dependent kinase 5
CNTNAP1
contactin associated protein 1
DLG1
discs, large homolog 1 (Drosophila)
DNM1
dynamin 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
GJA1
gap junction protein, alpha 1, 43kDa
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS
GNAS complex locus
GPHN
gephyrin
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF2A
kinesin heavy chain member 2A
MAOA
monoamine oxidase A
MYH10
myosin, heavy chain 10, non-muscle
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta
PTPRD
protein tyrosine phosphatase, receptor type, D
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SYNGAP1
synaptic Ras GTPase activating protein 1
SYT1
synaptotagmin I
UNC13A
unc-13 homolog A (C. elegans)

Abnormal brain ventricle/choroid plexus morphology (MP:0002200) 14 genes

ADD1
adducin 1 (alpha)
ANK2
ankyrin 2, neuronal
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
BASP1
brain abundant, membrane attached signal protein 1
CLIP2
CAP-GLY domain containing linker protein 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PHGDH
phosphoglycerate dehydrogenase
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
TOM1L2
target of myb1-like 2 (chicken)
VCL
vinculin

Abnormal startle reflex (MP:0001486) 10 genes

APOE
apolipoprotein E
CKMT1B
creatine kinase, mitochondrial 1B
CTNNA2
catenin (cadherin-associated protein), alpha 2
DST
dystonin
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MYO6
myosin VI
TMOD2
tropomodulin 2 (neuronal)

Stereotypic behavior (MP:0001408) 12 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
ATP2B4
ATPase, Ca++ transporting, plasma membrane 4
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6
MAPT
microtubule-associated protein tau
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
SPTBN4
spectrin, beta, non-erythrocytic 4
TNC
tenascin C

Abnormal innervation (MP:0002184) 14 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CNTN2
contactin 2 (axonal)
DCTN1
dynactin 1
DLG4
discs, large homolog 4 (Drosophila)
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
GPHN
gephyrin
L1CAM
L1 cell adhesion molecule
NME1
non-metastatic cells 1, protein (NM23A) expressed in
PLXNA4A
plexin A4
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)

Abnormal mechanical nociception (MP:0002734) 8 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CDK5
cyclin-dependent kinase 5
DLG2
discs, large homolog 2 (Drosophila)
DST
dystonin
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
SNAP25
synaptosomal-associated protein, 25kDa

Abnormal Purkinje cell morphology (MP:0000877) 11 gene

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
MAP2
microtubule-associated protein 2
MYH10
myosin, heavy chain 10, non-muscle
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2
VIM
vimentin

Abnormal maternal nurturing (MP:0001386) 10 genes

APOE
apolipoprotein E
CTNNA2
catenin (cadherin-associated protein), alpha 2
EPHA4
EPH receptor A4
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
LPHN1
latrophilin 1
MAP6
microtubule-associated protein 6
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1

Altered response to CNS ischemic injury (MP:0003075) 6 genes

APOE
apolipoprotein E
AQP4
aquaporin 4
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CST3
cystatin C
GSN
gelsolin
HSPA1B
heat shock 70kDa protein 1B

Abnormal spinal nerve morphology (MP:0001077) 9 genes

APOE
apolipoprotein E
DST
dystonin
NEFH
neurofilament, heavy polypeptide
NEFL
neurofilament, light polypeptide
NEFM
neurofilament, medium polypeptide
NFASC
neurofascin
PLXNA4A
plexin A4
SPTBN4
spectrin, beta, non-erythrocytic 4
VCL
vinculin

Abnormal corpus callosum morphology (MP:0000780) 8 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
CLIP2
CAP-GLY domain containing linker protein 2
DCLK1
doublecortin-like kinase 1
FYN
FYN oncogene related to SRC, FGR, YES
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal maternal behavior (MP:0008779) 10 genes

APOE
apolipoprotein E
CTNNA2
catenin (cadherin-associated protein), alpha 2
EPHA4
EPH receptor A4
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
LPHN1
latrophilin 1
MAP6
microtubule-associated protein 6
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1

Decreased startle reflex (MP:0001489) 6 genes

APOE
apolipoprotein E
CKMT1B
creatine kinase, mitochondrial 1B
DST
dystonin
GRIA3
glutamate receptor, ionotrophic, AMPA 3
MYO6
myosin VI
TMOD2
tropomodulin 2 (neuronal)

Abnormal grooming behavior (MP:0001440) 7 genes

ATP2B4
ATPase, Ca++ transporting, plasma membrane 4
CKMT1B
creatine kinase, mitochondrial 1B
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
MAOA
monoamine oxidase A
MAPT
microtubule-associated protein tau

Abnormal posture (MP:0001504) 12 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CRYAB
crystallin, alpha B
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
DST
dystonin
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GPHN
gephyrin
MAOA
monoamine oxidase A
MYO5A
myosin VA (heavy chain 12, myoxin)
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
SPTBN4
spectrin, beta, non-erythrocytic 4

Abnormal brain ventricle morphology (MP:0000822) 11 gene

ANK2
ankyrin 2, neuronal
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
BASP1
brain abundant, membrane attached signal protein 1
CLIP2
CAP-GLY domain containing linker protein 2
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PHGDH
phosphoglycerate dehydrogenase
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
VCL
vinculin

Abnormal dorsal telencephalic commissure morphology (MP:0008219) 8 genes

ABI2
abl-interactor 2
ANK2
ankyrin 2, neuronal
CLIP2
CAP-GLY domain containing linker protein 2
DCLK1
doublecortin-like kinase 1
FYN
FYN oncogene related to SRC, FGR, YES
LYNX1
Ly6/neurotoxin 1
MAP1B
microtubule-associated protein 1B
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal social investigation (MP:0001360) 5 genes

GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6

Myoclonus (MP:0000243) 5 genes

BSN
bassoon (presynaptic cytomatrix protein)
CIT
citron (rho-interacting, serine/threonine kinase 21)
MYO5A
myosin VA (heavy chain 12, myoxin)
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
SNAP25
synaptosomal-associated protein, 25kDa

Abnormal parental behavior (MP:0002068) 10 genes

APOE
apolipoprotein E
CTNNA2
catenin (cadherin-associated protein), alpha 2
EPHA4
EPH receptor A4
FMN2
formin 2
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
LPHN1
latrophilin 1
MAP6
microtubule-associated protein 6
RIMS1
regulating synaptic membrane exocytosis 1
SHANK1
SH3 and multiple ankyrin repeat domains 1

Abnormal glial cell morphology (MP:0003634) 13 genes

BASP1
brain abundant, membrane attached signal protein 1
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DST
dystonin
GFAP
glial fibrillary acidic protein
L1CAM
L1 cell adhesion molecule
MBP
myelin basic protein
NCAM1
neural cell adhesion molecule 1
PEA15
phosphoprotein enriched in astrocytes 15
PLP1
proteolipid protein 1
PLXNA1
plexin A1
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
VIM
vimentin

Small cerebellum (MP:0000852) 8 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNTN1
contactin 1
CTNNA2
catenin (cadherin-associated protein), alpha 2
MYH10
myosin, heavy chain 10, non-muscle
NRCAM
neuronal cell adhesion molecule
PURA
purine-rich element binding protein A

Hypoactivity (MP:0001402) 15 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
APOD
apolipoprotein D
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CNTNAP1
contactin associated protein 1
GNAS
GNAS complex locus
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KIF1A
kinesin family member 1A
L1CAM
L1 cell adhesion molecule
MAOA
monoamine oxidase A
PLP1
proteolipid protein 1
RGS7
regulator of G-protein signaling 7
SHANK1
SH3 and multiple ankyrin repeat domains 1
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP25
synaptosomal-associated protein, 25kDa
SYNPO
synaptopodin

Increased thigmotaxis (MP:0002797) 5 genes

APOE
apolipoprotein E
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
L1CAM
L1 cell adhesion molecule
NPEPPS
aminopeptidase puromycin sensitive
SNAP25
synaptosomal-associated protein, 25kDa

Enlarged lateral ventricles (MP:0008535) 5 genes

ANK2
ankyrin 2, neuronal
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
MYH10
myosin, heavy chain 10, non-muscle
PHGDH
phosphoglycerate dehydrogenase
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Abnormal pain threshold (MP:0001970) 11 gene

DLG4
discs, large homolog 4 (Drosophila)
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
KIF1A
kinesin family member 1A
LMO7
LIM domain 7
NPEPPS
aminopeptidase puromycin sensitive
PRKCG
protein kinase C, gamma
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Decreased motor neuron number (MP:0000939) 5 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GPHN
gephyrin
KIF5C
kinesin family member 5C
NEFM
neurofilament, medium polypeptide

Abnormal passive avoidance behavior (MP:0002799) 5 genes

FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
MAPK3
mitogen-activated protein kinase 3
TNC
tenascin C

Abnormal neuromuscular synapse morphology (MP:0001053) 6 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DCTN1
dynactin 1
GPHN
gephyrin
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)

Abnormal reflex (MP:0001961) 16 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CKMT1B
creatine kinase, mitochondrial 1B
CTNNA2
catenin (cadherin-associated protein), alpha 2
DBNL
drebrin-like
DST
dystonin
EPHA4
EPH receptor A4
FYN
FYN oncogene related to SRC, FGR, YES
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
GRIA3
glutamate receptor, ionotrophic, AMPA 3
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MYO6
myosin VI
SPTBN4
spectrin, beta, non-erythrocytic 4
TMOD2
tropomodulin 2 (neuronal)

Hyperalgesia (MP:0005407) 5 genes

GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
LMO7
LIM domain 7

Tonic-clonic seizures (MP:0003997) 5 genes

AP3B2
adaptor-related protein complex 3, beta 2 subunit
GRIA2
glutamate receptor, ionotropic, AMPA 2
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1
proteolipid protein 1
RYR2
ryanodine receptor 2 (cardiac)

Abnormal avoidance learning behavior (MP:0001462) 6 genes

FYN
FYN oncogene related to SRC, FGR, YES
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
MAPK3
mitogen-activated protein kinase 3
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
TNC
tenascin C

Abnormal brain wave pattern (MP:0004994) 5 genes

BSN
bassoon (presynaptic cytomatrix protein)
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
RYR2
ryanodine receptor 2 (cardiac)

Abnormal somatic motor system morphology (MP:0001051) 7 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
BASP1
brain abundant, membrane attached signal protein 1
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DCTN1
dynactin 1
EPHA4
EPH receptor A4
GPHN
gephyrin
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)

Decreased aggression (MP:0005656) 5 genes

DST
dystonin
GDI1
GDP dissociation inhibitor 1
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAP6
microtubule-associated protein 6

Abnormal CNS glial cell morphology (MP:0000952) 9 genes

GFAP
glial fibrillary acidic protein
MBP
myelin basic protein
NCAM1
neural cell adhesion molecule 1
PEA15
phosphoprotein enriched in astrocytes 15
PLP1
proteolipid protein 1
PLXNA1
plexin A1
PTPRZ1
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
VIM
vimentin

Abnormal olfactory pathway morphology (MP:0005235) 8 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
FYN
FYN oncogene related to SRC, FGR, YES
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
PHGDH
phosphoglycerate dehydrogenase
PTPRS
protein tyrosine phosphatase, receptor type, S

Abnormal long term depression (MP:0001898) 6 genes

CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
RIMS1
regulating synaptic membrane exocytosis 1
WASF1
WAS protein family, member 1

Abnormal thermal nociception (MP:0002733) 8 genes

APOE
apolipoprotein E
GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA3
glutamate receptor, ionotrophic, AMPA 3
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
NPEPPS
aminopeptidase puromycin sensitive
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal somatic nervous system physiology (MP:0005423) 5 genes

ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CNTN2
contactin 2 (axonal)
L1CAM
L1 cell adhesion molecule

Abnormal nerve conduction (MP:0005403) 5 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CNTNAP1
contactin associated protein 1
MAP1B
microtubule-associated protein 1B
NFASC
neurofascin
PLP1
proteolipid protein 1

Aggression-related behavior (MP:0002061) 6 genes

DST
dystonin
GDI1
GDP dissociation inhibitor 1
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6

Abnormal lateral ventricle morphology (MP:0000823) 7 genes

ANK2
ankyrin 2, neuronal
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
L1CAM
L1 cell adhesion molecule
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PHGDH
phosphoglycerate dehydrogenase
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Impaired limb coordination (MP:0001524) 5 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
DST
dystonin
L1CAM
L1 cell adhesion molecule
MYO5A
myosin VA (heavy chain 12, myoxin)

Abnormal olfactory bulb morphology (MP:0000819) 7 genes

CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
FYN
FYN oncogene related to SRC, FGR, YES
NCAM1
neural cell adhesion molecule 1
NCAM2
neural cell adhesion molecule 2
PHGDH
phosphoglycerate dehydrogenase
PTPRS
protein tyrosine phosphatase, receptor type, S

Hydroencephaly (MP:0001891) 6 genes

ADD1
adducin 1 (alpha)
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
TOM1L2
target of myb1-like 2 (chicken)

Hunched posture (MP:0001505) 6 genes

CASK
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CRYAB
crystallin, alpha B
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
MAOA
monoamine oxidase A
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Abnormal dentate gyrus morphology (MP:0000812) 5 genes

ABI2
abl-interactor 2
CDK5
cyclin-dependent kinase 5
CIT
citron (rho-interacting, serine/threonine kinase 21)
FYN
FYN oncogene related to SRC, FGR, YES
TUBA1A
tubulin, alpha 1a

Abnormal sciatic nerve (MP:0002651) 4 genes

APOE
apolipoprotein E
DST
dystonin
NFASC
neurofascin
SPTBN4
spectrin, beta, non-erythrocytic 4

Hindlimb paralysis (MP:0000755) 5 genes

CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DBNL
drebrin-like
FKBP8
FK506 binding protein 8, 38kDa
L1CAM
L1 cell adhesion molecule
PLP1
proteolipid protein 1

Decreased exploration in new environment (MP:0001417) 6 genes

APOE
apolipoprotein E
ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
CKMT1B
creatine kinase, mitochondrial 1B
GRIA2
glutamate receptor, ionotropic, AMPA 2
MAP1B
microtubule-associated protein 1B
RGS7
regulator of G-protein signaling 7

Increased startle reflex (MP:0001488) 4 genes

APOE
apolipoprotein E
CTNNA2
catenin (cadherin-associated protein), alpha 2
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1

Wavy neural tube (MP:0000930) 4 genes

CDH2
cadherin 2, type 1, N-cadherin (neuronal)
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
VCL
vinculin
WASL
Wiskott-Aldrich syndrome-like

Abnormal astrocyte morphology (MP:0002182) 5 genes

GFAP
glial fibrillary acidic protein
PEA15
phosphoprotein enriched in astrocytes 15
PLP1
proteolipid protein 1
SNTA1
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
VIM
vimentin

Abnormal neuron apoptosis (MP:0003202) 7 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LYNX1
Ly6/neurotoxin 1
MAOB
monoamine oxidase B
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
SYNGAP1
synaptic Ras GTPase activating protein 1

Abnormal sexual interaction (MP:0002566) 6 genes

GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOA
monoamine oxidase A
MAPT
microtubule-associated protein tau
NPEPPS
aminopeptidase puromycin sensitive
SPTBN4
spectrin, beta, non-erythrocytic 4

Abnormal cerebellar molecular layer (MP:0000889) 4 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CNTN1
contactin 1
MYH10
myosin, heavy chain 10, non-muscle

Abnormal action potential (MP:0005402) 6 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CNTNAP1
contactin associated protein 1
MYO6
myosin VI

Abnormal vestibular response (MP:0002979) 8 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
SPTBN4
spectrin, beta, non-erythrocytic 4

Head bobbing (MP:0001410) 4 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MAOA
monoamine oxidase A
MYO6
myosin VI
SPTBN4
spectrin, beta, non-erythrocytic 4

Abnormal sensory neuron morphology (MP:0000965) 17 genes

APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CNTN2
contactin 2 (axonal)
DST
dystonin
KIF5C
kinesin family member 5C
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
MYO6
myosin VI
NEFH
neurofilament, heavy polypeptide
NEFM
neurofilament, medium polypeptide
PLXNA4A
plexin A4
PRPH
peripherin
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2

Abnormal stationary movement (MP:0001388) 9 genes

ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CTNNA2
catenin (cadherin-associated protein), alpha 2
MAOA
monoamine oxidase A
MYO6
myosin VI
SPTBN4
spectrin, beta, non-erythrocytic 4
SYNGAP1
synaptic Ras GTPase activating protein 1
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal gait (MP:0001406) 12 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CIT
citron (rho-interacting, serine/threonine kinase 21)
CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
CNTNAP1
contactin associated protein 1
EPHA4
EPH receptor A4
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
NPEPPS
aminopeptidase puromycin sensitive
PLP1
proteolipid protein 1
SPTBN4
spectrin, beta, non-erythrocytic 4
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Abnormal Purkinje cell number (MP:0000878) 4 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
TRIM2
tripartite motif-containing 2
VIM
vimentin

Abnormal somatic sensory system morphology (MP:0000959) 20 genes

APOE
apolipoprotein E
ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
CNTN2
contactin 2 (axonal)
DST
dystonin
FKBP8
FK506 binding protein 8, 38kDa
KIF5C
kinesin family member 5C
L1CAM
L1 cell adhesion molecule
LMO7
LIM domain 7
MYO6
myosin VI
NEFH
neurofilament, heavy polypeptide
NEFM
neurofilament, medium polypeptide
PLXNA4A
plexin A4
PRPH
peripherin
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3
TRIM2
tripartite motif-containing 2
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCL
vinculin

Abnormal axon guidance (MP:0002961) 4 genes

DCLK1
doublecortin-like kinase 1
EPHA4
EPH receptor A4
L1CAM
L1 cell adhesion molecule
PLXNA4A
plexin A4

Impaired swimming (MP:0001522) 5 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
DBNL
drebrin-like
MYO6
myosin VI
PTPRD
protein tyrosine phosphatase, receptor type, D
TNC
tenascin C

Abnormal embryonic neuroepithelium morphology (MP:0004261) 5 genes

FKBP8
FK506 binding protein 8, 38kDa
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LLGL1
lethal giant larvae homolog 1 (Drosophila)
PHGDH
phosphoglycerate dehydrogenase
VCL
vinculin

Decreased thermal nociceptive threshold (MP:0003998) 3 genes

GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
LMO7
LIM domain 7

Abnormal motor neuron innervation (MP:0000940) 3 genes

BASP1
brain abundant, membrane attached signal protein 1
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4

Abnormal facial nerve morphology (MP:0001071) 3 genes

CDK5
cyclin-dependent kinase 5
MYH10
myosin, heavy chain 10, non-muscle
PLXNA4A
plexin A4

Abnormal vermis morphology (MP:0000864) 3 genes

CTNNA2
catenin (cadherin-associated protein), alpha 2
L1CAM
L1 cell adhesion molecule
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Purkinje cell degeneration (MP:0000876) 4 genes

AARS
alanyl-tRNA synthetase
ANK1
ankyrin 1, erythrocytic
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
VIM
vimentin

Abnormal neuronal migration (MP:0006009) 5 genes

CRMP1
collapsin response mediator protein 1
KIF2A
kinesin heavy chain member 2A
MYH10
myosin, heavy chain 10, non-muscle
TUBA1A
tubulin, alpha 1a
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Decreased neuron number (MP:0008948) 9 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CTNNA2
catenin (cadherin-associated protein), alpha 2
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GPHN
gephyrin
KIF5C
kinesin family member 5C
MYO6
myosin VI
NEFM
neurofilament, medium polypeptide
TRIM2
tripartite motif-containing 2

Abnormal sleep pattern (MP:0001501) 3 genes

DLGAP3
discs, large (Drosophila) homolog-associated protein 3
MAOA
monoamine oxidase A
MAP6
microtubule-associated protein 6

Abnormal copulation (MP:0001377) 3 genes

GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
NPEPPS
aminopeptidase puromycin sensitive
SPTBN4
spectrin, beta, non-erythrocytic 4

Reduced long term depression (MP:0001475) 3 genes

CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B
WASF1
WAS protein family, member 1

Abnormal brain development (MP:0000913) 19 genes

ADD1
adducin 1 (alpha)
CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CTNNA2
catenin (cadherin-associated protein), alpha 2
FKBP8
FK506 binding protein 8, 38kDa
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
L1CAM
L1 cell adhesion molecule
LLGL1
lethal giant larvae homolog 1 (Drosophila)
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
OPA1
optic atrophy 1 (autosomal dominant)
PHGDH
phosphoglycerate dehydrogenase
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
SCRIB
scribbled homolog (Drosophila)
SPTBN1
spectrin, beta, non-erythrocytic 1
SYN1
synapsin I
SYN2
synapsin II
SYNPO
synaptopodin
TOM1L2
target of myb1-like 2 (chicken)

Abnormal sensory neuron projections (MP:0000967) 3 genes

CNTN2
contactin 2 (axonal)
L1CAM
L1 cell adhesion molecule
PLXNA4A
plexin A4

Abnormal striatum morphology (MP:0004077) 3 genes

DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
LYNX1
Ly6/neurotoxin 1

Small olfactory bulb (MP:0002741) 3 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
NCAM1
neural cell adhesion molecule 1
PTPRS
protein tyrosine phosphatase, receptor type, S

Limb grasping (MP:0001513) 6 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CTNNA2
catenin (cadherin-associated protein), alpha 2
DBNL
drebrin-like
DST
dystonin
EPHA4
EPH receptor A4
SPTBN4
spectrin, beta, non-erythrocytic 4

Increased neuron apoptosis (MP:0003203) 4 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LYNX1
Ly6/neurotoxin 1
SYNGAP1
synaptic Ras GTPase activating protein 1

Abnormal diencephalon morphology (MP:0000830) 10 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CIT
citron (rho-interacting, serine/threonine kinase 21)
EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa
FYN
FYN oncogene related to SRC, FGR, YES
MARK2
MAP/microtubule affinity-regulating kinase 2
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
PTPRS
protein tyrosine phosphatase, receptor type, S

Lethargy (MP:0005202) 5 genes

ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
GRIA2
glutamate receptor, ionotropic, AMPA 2

Abnormal PNS glial cell morphology (MP:0001105) 3 genes

BASP1
brain abundant, membrane attached signal protein 1
DST
dystonin
L1CAM
L1 cell adhesion molecule

Abnormal Schwann cell morphology (MP:0001106) 3 genes

BASP1
brain abundant, membrane attached signal protein 1
DST
dystonin
L1CAM
L1 cell adhesion molecule

Decreased Purkinje cell number (MP:0000880) 3 genes

ANK3
ankyrin 3, node of Ranvier (ankyrin G)
TRIM2
tripartite motif-containing 2
VIM
vimentin

Abnormal circadian rhythm (MP:0001502) 4 genes

FYN
FYN oncogene related to SRC, FGR, YES
NCAM1
neural cell adhesion molecule 1
RAB3A
RAB3A, member RAS oncogene family
TNC
tenascin C

Abnormal cerebellar granule layer (MP:0000886) 4 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CTNNA2
catenin (cadherin-associated protein), alpha 2
MYH10
myosin, heavy chain 10, non-muscle

Abnormal pituitary gland size (MP:0008936) 3 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
MARK2
MAP/microtubule affinity-regulating kinase 2
PTPRS
protein tyrosine phosphatase, receptor type, S

Decreased neuron apoptosis (MP:0003204) 3 genes

GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
MAOB
monoamine oxidase B
PPP1R9B
protein phosphatase 1, regulatory (inhibitor) subunit 9B

Abnormal prepulse inhibition (MP:0003088) 3 genes

CKMT1B
creatine kinase, mitochondrial 1B
CTNNA2
catenin (cadherin-associated protein), alpha 2
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1

Abnormal neuron number (MP:0008946) 9 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CTNNA2
catenin (cadherin-associated protein), alpha 2
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GPHN
gephyrin
KIF5C
kinesin family member 5C
MYO6
myosin VI
NEFM
neurofilament, medium polypeptide
TRIM2
tripartite motif-containing 2

Abnormal dopamine level (MP:0001905) 4 genes

AQP4
aquaporin 4
FYN
FYN oncogene related to SRC, FGR, YES
MAOA
monoamine oxidase A
TNC
tenascin C

Circling (MP:0001394) 5 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
GNAO1
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
MAP6
microtubule-associated protein 6
MYO6
myosin VI
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal head movements (MP:0000436) 5 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
MAOA
monoamine oxidase A
MYO6
myosin VI
SPTBN4
spectrin, beta, non-erythrocytic 4

Gliosis (MP:0002183) 4 genes

CNP
2',3'-cyclic nucleotide 3' phosphodiesterase
DST
dystonin
GFAP
glial fibrillary acidic protein
PLP1
proteolipid protein 1

Abnormal grip strength (MP:0001515) 4 genes

DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
EPHA4
EPH receptor A4
L1CAM
L1 cell adhesion molecule
TNC
tenascin C

Abnormal neural tube morphology/development (MP:0002151) 15 genes

CDH2
cadherin 2, type 1, N-cadherin (neuronal)
CDK5
cyclin-dependent kinase 5
CFL1
cofilin 1 (non-muscle)
DCTN1
dynactin 1
FKBP8
FK506 binding protein 8, 38kDa
KRAS
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LLGL1
lethal giant larvae homolog 1 (Drosophila)
MLLT4
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
NCKAP1
NCK-associated protein 1
PHGDH
phosphoglycerate dehydrogenase
PTPN11
protein tyrosine phosphatase, non-receptor type 11
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
SCRIB
scribbled homolog (Drosophila)
VCL
vinculin
WASL
Wiskott-Aldrich syndrome-like

Depression-related behavior (MP:0003360) 3 genes

GABBR2
gamma-aminobutyric acid (GABA) B receptor, 2
MAOA
monoamine oxidase A
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Cochlear inner hair cell degeneration (MP:0004398) 3 genes

APOE
apolipoprotein E
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal cerebellar foliation (MP:0000857) 3 genes

CDK5
cyclin-dependent kinase 5
CTNNA2
catenin (cadherin-associated protein), alpha 2
MYH10
myosin, heavy chain 10, non-muscle

Abnormal chemical nociception (MP:0002735) 3 genes

GNAZ
guanine nucleotide binding protein (G protein), alpha z polypeptide
GRIA1
glutamate receptor, ionotropic, AMPA 1
GRIA2
glutamate receptor, ionotropic, AMPA 2

Abnormal third ventricle morphology (MP:0000826) 3 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
MYH10
myosin, heavy chain 10, non-muscle
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Small pituitary gland (MP:0005361) 2 genes

MARK2
MAP/microtubule affinity-regulating kinase 2
PTPRS
protein tyrosine phosphatase, receptor type, S

Aphagia (MP:0001438) 2 genes

DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1

Cochlear hair cell degeneration (MP:0004362) 4 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal hair cell physiology (MP:0003879) 2 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)

Abnormal PNS synaptic transmission (MP:0002913) 2 genes

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
SNAP25
synaptosomal-associated protein, 25kDa

Abnormal photoreceptor inner segment morphology (MP:0003730) 2 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
LMO7
LIM domain 7

Abnormal nursing (MP:0001382) 2 genes

APOE
apolipoprotein E
FMN2
formin 2

Abnormal basal ganglion morphology (MP:0006007) 3 genes

DLG4
discs, large homolog 4 (Drosophila)
DLGAP3
discs, large (Drosophila) homolog-associated protein 3
LYNX1
Ly6/neurotoxin 1

Increased thermal nociceptive threshold (MP:0001973) 3 genes

GRIA3
glutamate receptor, ionotrophic, AMPA 3
NPEPPS
aminopeptidase puromycin sensitive
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Bradykinesia (MP:0005156) 2 genes

ATP2A2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
SYNGAP1
synaptic Ras GTPase activating protein 1

Abnormal dorsal root ganglion morphology (MP:0000961) 4 genes

DST
dystonin
FKBP8
FK506 binding protein 8, 38kDa
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCL
vinculin

Abnormal forebrain development (MP:0003232) 5 genes

CDK5
cyclin-dependent kinase 5
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
OPA1
optic atrophy 1 (autosomal dominant)
SCRIB
scribbled homolog (Drosophila)
SYNPO
synaptopodin

Abnormal cochlear inner hair cell morphology (MP:0004393) 4 genes

APOE
apolipoprotein E
BSN
bassoon (presynaptic cytomatrix protein)
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal trigeminal nerve morphology (MP:0001065) 2 genes

GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
PLXNA4A
plexin A4

Decreased brain weight (MP:0002175) 2 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
SYN2
synapsin II

Abnormal midbrain morphology (MP:0000897) 4 genes

CIT
citron (rho-interacting, serine/threonine kinase 21)
KIF2A
kinesin heavy chain member 2A
L1CAM
L1 cell adhesion molecule
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal ventral commissure morphology (MP:0008220) 2 genes

EPHA4
EPH receptor A4
PLXNA4A
plexin A4

Abnormal anterior commissure morphology (MP:0008225) 2 genes

EPHA4
EPH receptor A4
PLXNA4A
plexin A4

Hypoalgesia (MP:0003043) 4 genes

GRIA3
glutamate receptor, ionotrophic, AMPA 3
KIF1A
kinesin family member 1A
NPEPPS
aminopeptidase puromycin sensitive
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Demyelination (MP:0000921) 2 genes

DST
dystonin
PLP1
proteolipid protein 1

Spina bifida (MP:0003054) 2 genes

FKBP8
FK506 binding protein 8, 38kDa
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2

Cochlear outer hair cell degeneration (MP:0004404) 3 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI

Abnormal outer hair cell stereociliary bundle morphology (MP:0004527) 2 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI

Abnormal thalamus morphology (MP:0000832) 2 genes

EPHA4
EPH receptor A4
FKBP8
FK506 binding protein 8, 38kDa

Decreased vertical activity (MP:0002757) 3 genes

APOD
apolipoprotein D
APOE
apolipoprotein E
CKMT1B
creatine kinase, mitochondrial 1B

Abnormal mechanoreceptor morphology (MP:0000972) 6 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
CAMK2A
calcium/calmodulin-dependent protein kinase II alpha
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Dilated lateral ventricles (MP:0000825) 2 genes

L1CAM
L1 cell adhesion molecule
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha

Abnormal sensory neuron innervation (MP:0000968) 3 genes

CNTN2
contactin 2 (axonal)
L1CAM
L1 cell adhesion molecule
PLXNA4A
plexin A4

Increased neuron number (MP:0008947) 2 genes

GPHN
gephyrin
KIF5C
kinesin family member 5C

Abnormal cochlear hair cell morphology (MP:0002622) 5 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Abnormal cerebellum development (MP:0000854) 3 genes

CDK5
cyclin-dependent kinase 5
CTNNA2
catenin (cadherin-associated protein), alpha 2
MYH10
myosin, heavy chain 10, non-muscle

Abnormal telencephalon development (MP:0000934) 3 genes

CDK5
cyclin-dependent kinase 5
NAPA
N-ethylmaleimide-sensitive factor attachment protein, alpha
SYNPO
synaptopodin

Abnormal hair cell morphology (MP:0000045) 5 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
BSN
bassoon (presynaptic cytomatrix protein)
MYO6
myosin VI
SLC1A3
solute carrier family 1 (glial high affinity glutamate transporter), member 3

Open neural tube (MP:0000929) 5 genes

CFL1
cofilin 1 (non-muscle)
FKBP8
FK506 binding protein 8, 38kDa
NCKAP1
NCK-associated protein 1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2

Abnormal cochlear hair cell stereociliary bundle morphology (MP:0004521) 2 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI

Abnormal sensory ganglion morphology (MP:0000960) 6 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
DST
dystonin
FKBP8
FK506 binding protein 8, 38kDa
UCHL1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCL
vinculin

Abnormal pituitary gland morphology (MP:0000633) 3 genes

CACNB4
calcium channel, voltage-dependent, beta 4 subunit
MARK2
MAP/microtubule affinity-regulating kinase 2
PTPRS
protein tyrosine phosphatase, receptor type, S

Cochlear ganglion degeneration (MP:0002857) 2 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Abnormal neural tube closure (MP:0003720) 6 genes

CFL1
cofilin 1 (non-muscle)
FKBP8
FK506 binding protein 8, 38kDa
NCKAP1
NCK-associated protein 1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
RAPGEF2
Rap guanine nucleotide exchange factor (GEF) 2
VCL
vinculin

Abnormal microglial cell morphology (MP:0000136) 1 gene

PLP1
proteolipid protein 1

Short photoreceptor outer segment (MP:0008587) 1 gene

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide

Abnormal granule neuron (MP:0004098) 1 gene

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Decreased dopamine level (MP:0005643) 1 gene

TNC
tenascin C

Abnormal muscle innervation (MP:0001052) 1 gene

EPHA4
EPH receptor A4

Abnormal pons morphology (MP:0000848) 1 gene

KIF2A
kinesin heavy chain member 2A

Head tossing (MP:0005307) 1 gene

MYO6
myosin VI

Thin cerebral cortex (MP:0006254) 1 gene

L1CAM
L1 cell adhesion molecule

Decreased sensory neuron number (MP:0000966) 3 genes

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI
TRIM2
tripartite motif-containing 2

Short stride length (MP:0001407) 1 gene

DCTN1
dynactin 1

Abnormal neural fold formation (MP:0004837) 1 gene

MLLT4
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4

Increased sensory neuron number (MP:0006006) 1 gene

KIF5C
kinesin family member 5C

Abnormal cochlear outer hair cell morphology (MP:0004399) 3 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
MYO6
myosin VI

Abnormal sympathetic system morphology (MP:0001007) 1 gene

PLXNA4A
plexin A4

Head tilt (MP:0005191) 1 gene

MYO6
myosin VI

Decreased cochlear hair cell number (MP:0004408) 1 gene

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Incomplete cephalic closure (MP:0000928) 1 gene

VCL
vinculin

Abnormal hypothalamus morphology (MP:0000837) 1 gene

FYN
FYN oncogene related to SRC, FGR, YES

Abnormal photoreceptor outer segment morphology (MP:0003729) 2 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
LMO7
LIM domain 7

Abnormal external granule cell layer morphology (MP:0000872) 1 gene

MYH10
myosin, heavy chain 10, non-muscle

Abnormal neural crest cells (MP:0002949) 1 gene

CFL1
cofilin 1 (non-muscle)

Abnormal cochlear ganglion morphology (MP:0002855) 2 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Retinal photoreceptor degeneration (MP:0008450) 1 gene

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide

Increased drinking behavior (MP:0003911) 1 gene

APOE
apolipoprotein E

Increased eating behavior (MP:0003909) 2 genes

APOE
apolipoprotein E
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta

Kinked neural tube (MP:0003400) 1 gene

PTPN11
protein tyrosine phosphatase, non-receptor type 11

Abnormal cochlear hair cell number (MP:0004406) 1 gene

ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Polyphagia (MP:0001433) 1 gene

PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta

Abnormal autonomic nervous system morphology (MP:0002751) 1 gene

PLXNA4A
plexin A4

Abnormal food intake (MP:0005449) 4 genes

APOE
apolipoprotein E
DYNC1H1
dynein, cytoplasmic 1, heavy chain 1
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
PRKAR2B
protein kinase, cAMP-dependent, regulatory, type II, beta

Abnormal retinal photoreceptor morphology (MP:0001004) 2 genes

ATP1B2
ATPase, Na+/K+ transporting, beta 2 polypeptide
LMO7
LIM domain 7

Abnormal interneuron morphology (MP:0006004) 1 gene

MYH10
myosin, heavy chain 10, non-muscle

Abnormal drinking behavior (MP:0001422) 1 gene

APOE
apolipoprotein E

Abnormal cranial ganglia morphology (MP:0001081) 2 genes

APOE
apolipoprotein E
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2

Exencephaly (MP:0000914) 2 genes

FKBP8
FK506 binding protein 8, 38kDa
PHGDH
phosphoglycerate dehydrogenase

Intracranial hemorrhage (MP:0001915) 1 gene

Supplementary Table 8. Comparison of dN/dS between Genome and hPSD.

Genes from the human genome, mouse brain proteome, human cortex proteome and human cortical neuron transcriptome for which there was dN/dS information were divided into those included in the hPSD and those absent from it. The cumulative dN/dS distributions are computed for each dataset.

Median dN/dS for Genome, Total and Consensus hPSD

Human vs. Mouse Human vs. Macaque Human vs. Chimpanzee Mouse vs. Rat
Genome 0.117185654 0.226750261 0.254901961 0.151415405
Total hPSD 0.048034937 0.121317182 0.105409357 0.075020956
Consensus hPSD 0.042063489 0.109090909 0.094202899 0.06471183
TXTCSVXLS

Individual Gene dN/dS

Human vs Mouse

Human Ensembl ID Mouse Ensembl ID In Human consensus PSD dN dS dN/dS
ENSG00000168385 ENSMUSG00000026276 YES 0.0063 0.5378 0.011714392
ENSG00000100167 ENSMUSG00000022456 YES 0.0342 0.6152 0.055591678
ENSG00000181013 ENSMUSG00000020486 YES 0.344 0.4938 0.696638315
ENSG00000184702 ENSMUSG00000072214 YES 0.033 1.4165 0.023296858
ENSG00000125354 ENSMUSG00000050379 YES 0.0199 0.4541 0.043822946
ENSG00000164402 ENSMUSG00000018398 YES 0.0103 0.607 0.016968699
ENSG00000184640 ENSMUSG00000059248 YES 0.0841 1.111 0.07569757
ENSG00000186522 ENSMUSG00000019917 YES 0.1322 0.6246 0.211655459
ENSG00000138758 ENSMUSG00000058013 YES 0.0107 0.7564 0.014145955
ENSG00000115977 ENSMUSG00000057230 YES 0.0366 0.3311 0.110540622
ENSG00000090861 ENSMUSG00000031960 YES 0.0222 0.5914 0.037538045
ENSG00000117528 ENSMUSG00000028127 YES 0.023 0.4522 0.05086245
ENSG00000136754 ENSMUSG00000058835 YES 0.0148 0.3451 0.04288612
ENSG00000138443 ENSMUSG00000026782 YES 0.0073 0.2554 0.028582616
ENSG00000099204 ENSMUSG00000025085 YES 0.0554 0.4809 0.115200665
ENSG00000159842 ENSMUSG00000017631 YES 0.0166 0.6189 0.026821781
ENSG00000107897 ENSMUSG00000026781 YES 0.0946 0.5036 0.187847498
ENSG00000131473 ENSMUSG00000020917 YES 0.0087 0.5367 0.016210173
ENSG00000100412 ENSMUSG00000022477 YES 0.0158 0.5374 0.029400819
ENSG00000143727 ENSMUSG00000044573 YES 0.0777 0.6084 0.127712032
ENSG00000123983 ENSMUSG00000032883 YES 0.0363 0.4595 0.078998912
ENSG00000164398 ENSMUSG00000020333 YES 0.0578 0.434 0.133179724
ENSG00000075624 ENSMUSG00000029580 YES 0.0022 0.6694 0.003286525
ENSG00000072110 ENSMUSG00000015143 YES 0.0039 0.5925 0.006582278
ENSG00000077522 ENSMUSG00000052374 YES 0.0033 0.6637 0.004972126
Filter: 1418 entries 123...57TXTCSVXLS

Human vs Macaque

Human Ensembl Gene ID Rhesus Ensembl Gene ID In Human consensus PSD dN dS dN/dS
ENSG00000123560 ENSMMUG00000000809 YES 0.0019 0.0074 0.256756757
ENSG00000133703 ENSMMUG00000015381 YES 0 0.0121 0
ENSG00000189043 ENSMMUG00000029771 YES 0 0.0128 0
ENSG00000164924 ENSMMUG00000006489 YES 0 0.0147 0
ENSG00000148660 ENSMMUG00000021393 YES 0.0026 0.0162 0.160493827
ENSG00000116489 ENSMMUG00000015668 YES 0.0017 0.0186 0.091397849
ENSG00000136238 ENSMMUG00000021075 YES 0 0.0192 0
ENSG00000091140 ENSMMUG00000006564 YES 0.0044 0.0196 0.224489796
ENSG00000140416 ENSMMUG00000001587 YES 0.0015 0.0208 0.072115385
ENSG00000070756 ENSMMUG00000017786 YES 0 0.021 0
ENSG00000171224 ENSMMUG00000016240 YES 0.0388 0.0212 1.830188679
ENSG00000107758 ENSMMUG00000015714 YES 0.0018 0.022 0.081818182
ENSG00000109846 ENSMMUG00000022133 YES 0.0026 0.0221 0.117647059
ENSG00000112290 ENSMMUG00000014764 YES 0 0.0226 0
ENSG00000198898 ENSMMUG00000006784 YES 0 0.0227 0
ENSG00000125868 ENSMMUG00000013786 YES 0 0.0228 0
ENSG00000084733 ENSMMUG00000016021 YES 0 0.0231 0
ENSG00000119711 ENSMMUG00000012684 YES 0.011 0.0235 0.468085106
ENSG00000147649 ENSMMUG00000014210 YES 0.0073 0.0253 0.288537549
ENSG00000156642 ENSMMUG00000009869 YES 0 0.0256 0
ENSG00000141279 ENSMMUG00000005869 YES 0.0006 0.0262 0.022900763
ENSG00000116473 ENSMMUG00000014486 YES 0 0.0263 0
ENSG00000138698 ENSMMUG00000022417 YES 0.0047 0.0264 0.178030303
ENSG00000171723 ENSMMUG00000009520 YES 0.0006 0.0267 0.02247191
ENSG00000128872 ENSMMUG00000017432 YES 0.0042 0.0277 0.151624549
Filter: 1418 entries 123...57TXTCSVXLS

Human vs Chimpanzee

Human Ensembl Gene ID Chimp Ensembl Gene ID In Human consensus PSD dN dS dN/dS
ENSG00000004660 ENSPTRG00000008579 YES 0.0045 0.0214 0.210280374
ENSG00000004864 ENSPTRG00000019423 YES 0 0.0055 0
ENSG00000005249 ENSPTRG00000019574 YES 0.0011 0.0059 0.186440678
ENSG00000006125 ENSPTRG00000009021 YES 0 0.0111 0
ENSG00000006451 ENSPTRG00000019108 YES 0 0.0092 0
ENSG00000007923 ENSPTRG00000000094 YES 0.0008 0.0165 0.048484848
ENSG00000008256 ENSPTRG00000018907 YES 0 0.0206 0
ENSG00000010256 ENSPTRG00000014892 YES 0.0011 0.0176 0.0625
ENSG00000010810 ENSPTRG00000018511 YES 0 0.0136 0
ENSG00000011347 ENSPTRG00000003745 YES 0.005 0.0199 0.251256281
ENSG00000013016 ENSPTRG00000011805 YES 0.0008 0.0233 0.034334764
ENSG00000014641 ENSPTRG00000011974 YES 0.0014 0.0075 0.186666667
ENSG00000017373 ENSPTRG00000009070 YES 0.0011 0.0155 0.070967742
ENSG00000018189 ENSPTRG00000016135 YES 0.0007 0.0059 0.118644068
ENSG00000018236 ENSPTRG00000004834 YES 0.0005 0.0198 0.025252525
ENSG00000018625 ENSPTRG00000001540 YES 0.0017 0.0197 0.086294416
ENSG00000020129 ENSPTRG00000000522 YES 0 0.0091 0
ENSG00000022355 ENSPTRG00000017499 YES 0 0.0221 0
ENSG00000023228 ENSPTRG00000012842 YES 0.0019 0.018 0.105555556
ENSG00000026025 ENSPTRG00000002328 YES 0.0037 0.0275 0.134545455
ENSG00000029534 ENSPTRG00000020198 YES 0.0012 0.0144 0.083333333
ENSG00000033122 ENSPTRG00000000848 YES 0 0.0031 0
ENSG00000033627 ENSPTRG00000009202 YES 0.0006 0.0106 0.056603774
ENSG00000035403 ENSPTRG00000002647 YES 0 0.004 0
ENSG00000038427 ENSPTRG00000017055 YES 0.0049 0.0107 0.457943925
Filter: 1418 entries 123...57TXTCSVXLS

Mouse vs Rat

Human Ensembl Gene ID Mouse Ensembl Gene ID Rat Ensembl Gene ID In Human consensus PSD dN dS dN/dS
ENSG00000006451 ENSMUSG00000008859 ENSRNOG00000013454 YES 0 0.1035 0
ENSG00000022355 ENSMUSG00000010803 ENSRNOG00000003512 YES 0 0.1434 0
ENSG00000042753 ENSMUSG00000008036 ENSRNOG00000015865 YES 0 0.1767 0
ENSG00000054116 ENSMUSG00000028847 ENSRNOG00000010550 YES 0 0.1759 0
ENSG00000057608 ENSMUSG00000021218 ENSRNOG00000018091 YES 0 0.1351 0
ENSG00000075624 ENSMUSG00000029580 ENSRNOG00000034254 YES 0 0.155 0
ENSG00000077522 ENSMUSG00000052374 ENSRNOG00000017833 YES 0 0.2048 0
ENSG00000078369 ENSMUSG00000029064 ENSRNOG00000016638 YES 0 0.0868 0
ENSG00000084764 ENSMUSG00000029166 ENSRNOG00000008961 YES 0 0.1432 0
ENSG00000086061 ENSMUSG00000028410 ENSRNOG00000007029 YES 0 0.0947 0
ENSG00000099365 ENSMUSG00000030806 ENSRNOG00000019193 YES 0 0.1698 0
ENSG00000101460 ENSMUSG00000027602 ENSRNOG00000025443 YES 0 0.1174 0
ENSG00000105443 ENSMUSG00000003269 ENSRNOG00000021051 YES 0 0.1993 0
ENSG00000105568 ENSMUSG00000007564 ENSRNOG00000011282 YES 0 0.1263 0
ENSG00000105649 ENSMUSG00000031840 ENSRNOG00000019433 YES 0 0.3159 0
ENSG00000106367 ENSMUSG00000004849 ENSRNOG00000001415 YES 0 0.1995 0
ENSG00000108424 ENSMUSG00000001440 ENSRNOG00000009275 YES 0 0.1639 0
ENSG00000108953 ENSMUSG00000020849 ENSRNOG00000005290 YES 0 0.0252 0
ENSG00000115073 ENSMUSG00000037351 ENSRNOG00000016789 YES 0 0.1716 0
ENSG00000116473 ENSMUSG00000068798 ENSRNOG00000032463 YES 0 0.0865 0
ENSG00000118680 ENSMUSG00000034868 ENSRNOG00000015733 YES 0 0.3887 0
ENSG00000121083 ENSMUSG00000020483 ENSRNOG00000008921 YES 0 0.0975 0
ENSG00000125814 ENSMUSG00000027438 ENSRNOG00000004753 YES 0 0.1487 0
ENSG00000125971 ENSMUSG00000047459 ENSRNOG00000025715 YES 0 0.1067 0
ENSG00000126267 ENSMUSG00000036751 ENSRNOG00000034161 YES 0 0.3101 0
Filter: 1418 entries 123...57TXTCSVXLS

Supplementary Table 9. Mouse and human datasets dN/dS analysis.

Genes from a mouse brain proteome, mouse brain plasma membrane proteome, human cortical neuron transcriptome and human cortex proteome for which there was dN/dS information were divided into those included in the hPSD and those absent from it.

Human coritcal neuron mRNA expression dataset

Human Brain Proteins in consensus hPSD

Human Ensembl ID dN/dS Values
ENSG00000137285 0
ENSG00000163032 0
ENSG00000213639 0
ENSG00000134287 0
ENSG00000167552 0
ENSG00000138071 0
ENSG00000123560 0
ENSG00000106367 0
ENSG00000136854 0
ENSG00000154917 0
ENSG00000127824 0
ENSG00000137267 0.001047974
ENSG00000055163 0.001112701
ENSG00000070808 0.002171291
ENSG00000197872 0.002601747
ENSG00000105649 0.003421491
ENSG00000179915 0.004021111
ENSG00000008256 0.004212215
ENSG00000086061 0.004800349
ENSG00000070961 0.004884264
ENSG00000134308 0.005169443
ENSG00000138814 0.005357143
ENSG00000164924 0.00562963
ENSG00000006451 0.005709836
ENSG00000133026 0.006288344
Filter: 217 entries 123...9TXTCSVXLS

Other Human Brain Proteins

Human Ensembl ID dN/dS Values
ENSG00000128739 0
ENSG00000134108 0
ENSG00000070831 0
ENSG00000112308 0
ENSG00000139112 0
ENSG00000078140 0
ENSG00000166200 0
ENSG00000114784 0
ENSG00000119801 0
ENSG00000087095 0
ENSG00000166619 0
ENSG00000104435 0
ENSG00000072401 0
ENSG00000119048 0
ENSG00000168785 0
ENSG00000127955 0
ENSG00000162188 0
ENSG00000129128 0
ENSG00000143013 0
ENSG00000074266 0
ENSG00000120742 0
ENSG00000116752 0
ENSG00000115233 0
ENSG00000112335 0
ENSG00000185630 0
Filter: 1492 entries 123...60TXTCSVXLS

Human cortex proteomics dataset

Human Brain Proteins in consensus hPSD

Human Ensembl ID dN/dS Values
ENSG00000075785 0
ENSG00000084733 0
ENSG00000099365 0
ENSG00000108953 0
ENSG00000111540 0
ENSG00000116473 0
ENSG00000121083 0
ENSG00000123416 0
ENSG00000123560 0
ENSG00000125814 0
ENSG00000127824 0
ENSG00000136854 0
ENSG00000137285 0
ENSG00000138107 0
ENSG00000148943 0
ENSG00000154917 0
ENSG00000161203 0
ENSG00000167552 0
ENSG00000197111 0
ENSG00000213639 0
ENSG00000182498 0.00094162
ENSG00000104833 0.000981782
ENSG00000188229 0.001000375
ENSG00000137267 0.001047974
ENSG00000078369 0.001075847
Filter: 277 entries 123...12TXTCSVXLS

Other Human Brain Proteins

Human Ensembl ID dN/dS Values
ENSG00000103769 0
ENSG00000112245 0
ENSG00000133818 0
ENSG00000134108 0
ENSG00000162188 0
ENSG00000169564 0
ENSG00000169750 0
ENSG00000170144 0
ENSG00000172354 0
ENSG00000196230 0
ENSG00000159251 0.000899685
ENSG00000100764 0.00098912
ENSG00000101210 0.001005819
ENSG00000143632 0.001036717
ENSG00000221983 0.001052878
ENSG00000183207 0.001774798
ENSG00000088256 0.001909994
ENSG00000167770 0.003467707
ENSG00000100129 0.004071574
ENSG00000156052 0.00408998
ENSG00000197958 0.004174743
ENSG00000143862 0.004280663
ENSG00000183785 0.004390458
ENSG00000124614 0.004463636
ENSG00000177885 0.004589261
Filter: 352 entries 123...15TXTCSVXLS

Supplementary Table 10. dN/dS Values for genes expressed in human neurons classified by cellular component.

Mouse to human dN/dS values from Ensembl 53 for genes expressed in human cortical neurons classified by cellular component

Ensembl Gene ID Gene Symbol GO ID GO Description Cell Component Group dN dS dN/dS
ENSG00000008130 NADK GO:0005829 cytosol Cytosol 0.0405 0.9089 0.044559357
ENSG00000067606 PRKCZ GO:0005737 cytoplasm Cytosol 0.0199 0.7169 0.027758404
ENSG00000069424 KCNAB2 GO:0005737 cytoplasm Cytosol 0.0647 0.9237 0.070044387
ENSG00000097021 ACOT7 GO:0005737 cytoplasm Cytosol 0.058 0.7753 0.074809751
ENSG00000215788 TNFRSF25 GO:0005829 cytosol Cytosol 0.2701 0.6764 0.399319929
ENSG00000171735 CAMTA1 GO:0005737 cytoplasm Cytosol 0.0282 0.4602 0.061277705
ENSG00000054523 KIF1B GO:0005737 cytoplasm Cytosol 0.0187 0.4259 0.04390702
ENSG00000099715 PCDH11Y GO:0005737 cytoplasm Cytosol 0.1016 0.4647 0.218635679
ENSG00000067048 DDX3Y GO:0005737 cytoplasm Cytosol 0.0621 0.4684 0.132578992
ENSG00000101557 USP14 GO:0005737 cytoplasm Cytosol 0.0624 0.503 0.124055666
ENSG00000116688 MFN2 GO:0005829 cytosol Cytosol 0.0237 0.5036 0.04706116
ENSG00000036448 MYOM2 GO:0005737 cytoplasm Cytosol 0.0559 1.1073 0.050483157
ENSG00000060237 WNK1 GO:0005737 cytoplasm Cytosol 0.076 0.3792 0.200421941
ENSG00000182636 NDN GO:0005737 cytoplasm Cytosol 0.0875 0.6571 0.133160858
ENSG00000178950 GAK GO:0005737 cytoplasm Cytosol 0.1 0.8576 0.116604478
ENSG00000082397 EPB41L3 GO:0005737 cytoplasm Cytosol 0.0691 0.6407 0.107850788
ENSG00000131100 ATP6V1E1 GO:0005737 cytoplasm Cytosol 0.0061 0.4794 0.012724239
ENSG00000114062 UBE3A GO:0005829 cytosol Cytosol 0.015 0.2859 0.052465897
ENSG00000132906 CASP9 GO:0005829 cytosol Cytosol 0.1839 0.6583 0.279355917
ENSG00000134108 ARL8B GO:0005737 cytoplasm Cytosol 0 0.2387 0
ENSG00000197879 MYO1C GO:0005737 cytoplasm Cytosol 0.0151 0.7598 0.019873651
ENSG00000142192 APP GO:0005737 cytoplasm Cytosol 0.0171 0.5283 0.032367973
ENSG00000068078 FGFR3 GO:0048471 perinuclear region of cytoplasm Cytosol 0.1543 1.4924 0.103390512
ENSG00000101558 VAPA GO:0048471 perinuclear region of cytoplasm Cytosol 0.013 0.2413 0.053874845
ENSG00000173273 TNKS GO:0005737 cytoplasm Cytosol 0.0108 0.4947 0.021831413
Filter: 5555 entries 123...223TXTCSVXLS

Supplementary Table 11. dN/dS values for hub, non-hub and TAP-PSD-95 proteins.

Mouse to human dN, dS and dN/dS values obtained from Ensembl 53 are shown for hub consensus hPSD proteins (> 15 interactions), non-hub consensus hPSD proteins (<= 15 interactions) as well as for proteins isolated using tandem affinity purification of PSD-95.

Hub proteins

Ensembl ID Approved Gene Name dN dS dN/dS Interactions
ENSG00000170027 YWHAG 0 0.9543 0 53
ENSG00000075624 ACTB 0.0022 0.6694 0.003286525 40
ENSG00000197122 SRC 0.0046 0.8208 0.005604288 35
ENSG00000010810 FYN 0.0026 0.3115 0.008346709 34
ENSG00000132535 DLG4 0.0035 0.353 0.009915014 32
ENSG00000168036 CTNNB1 0.0006 0.4515 0.001328904 26
ENSG00000166913 YWHAB 0.0056 0.5013 0.011170956 26
ENSG00000197694 SPTAN1 0.0104 0.6621 0.015707597 24
ENSG00000176884 GRIN1 0.004 0.7128 0.005611672 23
ENSG00000075711 DLG1 0.0213 0.4152 0.051300578 22
ENSG00000164924 YWHAZ 0.0019 0.3375 0.00562963 22
ENSG00000150086 GRIN2B 0.0058 0.5199 0.011155992 21
ENSG00000026025 VIM 0.0111 0.4681 0.023712882 21
ENSG00000170579 DLGAP1 0.0174 0.5557 0.031311859 19
ENSG00000127824 TUBA4A 0 0.3919 0 19
ENSG00000105464 GRIN2D 0.011 0.9041 0.012166796 18
ENSG00000131899 LLGL1 0.0531 0.7398 0.071776156 18
ENSG00000136238 RAC1 0.009 0.386 0.023316062 18
ENSG00000106089 STX1A 0.0097 0.9028 0.010744351 18
ENSG00000128245 YWHAH 0.0036 0.3628 0.009922822 18
ENSG00000070808 CAMK2A 0.0009 0.4145 0.002171291 17
ENSG00000109971 HSPA8 0.0007 0.633 0.001105845 17
ENSG00000134308 YWHAQ 0.0018 0.3482 0.005169443 17
Filter: TXTCSVXLS

Non-hub proteins

Ensembl ID Approved Gene Name dN dS dN/dS Interactions
ENSG00000164885 CDK5 0.0016 0.4681 0.003418073 15
ENSG00000159023 EPB41 0.0425 0.4408 0.096415608 15
ENSG00000120899 PTK2B 0.0221 0.6142 0.035981765 15
ENSG00000079841 RIMS1 0.0724 0.5155 0.140446169 15
ENSG00000104067 TJP1 0.0501 0.4719 0.106166561 15
ENSG00000150672 DLG2 0.0156 0.3422 0.045587376 14
ENSG00000106976 DNM1 0.0154 0.6325 0.024347826 14
ENSG00000186868 MAPT 0.1268 0.5494 0.230797233 14
ENSG00000154556 SORBS2 0.0535 0.5726 0.093433461 14
ENSG00000082458 DLG3 0.0054 0.3162 0.017077799 13
ENSG00000108262 GIT1 0.0106 0.5442 0.019478133 13
ENSG00000149269 PAK1 0.033 0.4012 0.08225324 13
ENSG00000162105 SHANK2 0.0676 0.7208 0.093784684 13
ENSG00000108953 YWHAE 0 0.2889 0 13
ENSG00000136754 ABI1 0.0148 0.3451 0.04288612 12
ENSG00000183020 AP2A2 0.0112 0.7961 0.014068584 12
ENSG00000170759 KIF5B 0.0143 0.5038 0.028384279 12
ENSG00000102882 MAPK3 0.0147 0.6869 0.021400495 12
ENSG00000099882 SHANK3 0.0253 0.6094 0.041516245 12
ENSG00000008056 SYN1 0.0241 0.4006 0.06015976 12
ENSG00000196961 AP2A1 0.0066 0.7431 0.008881712 11
ENSG00000175866 BAIAP2 0.0276 1.0522 0.026230755 11
ENSG00000147044 CASK 0.0005 0.1889 0.002646903 11
ENSG00000072832 CRMP1 0.0157 0.6366 0.024662268 11
ENSG00000044115 CTNNA1 0.0031 0.3889 0.007971201 11
Filter: 684 entries 123...28TXTCSVXLS

TAP-PSD-95 complex (Mouse)

Ensembl ID Approved Gene Name dN dS dN/dS
ENSMUSG00000000881 Dlg3 0.0054 0.3162 0.017077799
ENSMUSG00000001473 Tubb6 0.0118 1.1749 0.010043408
ENSMUSG00000001847 Rac1 0.009 0.386 0.023316062
ENSMUSG00000001986 Gria3 0.0032 0.1939 0.016503352
ENSMUSG00000002771 Grin2d 0.011 0.9041 0.012166796
ENSMUSG00000003279 Dlgap1 0.0174 0.5557 0.031311859
ENSMUSG00000003378 Grik5 0.0682 0.7558 0.090235512
ENSMUSG00000004264 Phb2 0.0031 0.4876 0.00635767
ENSMUSG00000005089 Slc1a2 0.0244 0.5434 0.044902466
ENSMUSG00000005161 Prdx2 0.0305 0.6278 0.048582351
ENSMUSG00000006782 Cnp 0.0728 0.6544 0.111246944
ENSMUSG00000013160 Atp6v0d1 0.0013 0.6943 0.001872389
ENSMUSG00000015733 Capza2 0.0078 0.2941 0.026521591
ENSMUSG00000015932 Dstn 0.0188 0.4755 0.039537329
ENSMUSG00000016319 Slc25a5 0.0082 0.31 0.026451613
ENSMUSG00000017390 Aldoc 0.0106 0.417 0.025419664
ENSMUSG00000017631 Abr 0.0166 0.6189 0.026821781
ENSMUSG00000019146 Cacng2 0.0051 0.4179 0.012203877
ENSMUSG00000020042 Btbd11 0.0142 0.4859 0.02922412
ENSMUSG00000020315 Spnb2 0.0077 0.5493 0.014017841
ENSMUSG00000020402 Vdac1 0.0065 0.5192 0.01251926
ENSMUSG00000020524 Gria1 0.0056 0.504 0.011111111
ENSMUSG00000020733 Slc9a3r1 0.0567 0.7611 0.074497438
ENSMUSG00000020849 Ywhae 0 0.2889 0
ENSMUSG00000020886 Dlg4 0.0035 0.353 0.009915014
Filter: 110 entries 123...5TXTCSVXLS

Supplementary Table 12. Mouse to human dN/dS values in hPSD and other organelle proteomes.

Mouse to human dN/dS values from Ensembl 53 for the following proteomics sets are provided: hPSD, Consensus hPSD, Mitochondrion, Endoplasmic Reticulum (ER), Golgi, ER Golgi Vesicle, Early Endosome, Recycling Endosome, Plasma Membrane, Proteasome, Cytosol, and Nucleus.

Summary dN/dS

Set Median dN/dS Protein Number
Total hPSD 0.047780693 1461
Consensus hPSD 0.041447053 748
Mitochondrion 0.104158057 274
Endoplasmic Reticulum (ER) 0.090701322 170
Golgi 0.071776561 204
ER Golgi Vesicle 0.076295712 173
Early Endosome 0.081593497 62
Recycling Endosome 0.051027055 250
Plasma Membrane 0.063870409 188
Proteasome 0.051432982 42
Cytosol 0.076295712 413
Nucleus 0.04579386 174
Filter: TXTCSVXLS

Individual Gene dN/dS

hPSD Mitochondrion Endoplasmic Reticulum (ER) Golgi ER Golgi Vesicle Early Endosome Recycling Endosome Plasma Membrane Proteasome Cytosol Nucleus
Ensembl ID Approved Gene Name Consensus hPSD dN/dS dN dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS UniProt Acc Ensembl ID dN/dS
ENSG00000115977 AAK1 YES 0.110540622 0.0366 0.3311 O08600 ENSMUSG00000015337 0.040185334 O08601 ENSMUSG00000028158 0.134516415 O08547 O08547 O08547 O08547 O35488 ENSMUSG00000027359 0.151389992 O09061 ENSMUSG00000014769 0.053500368 O08573 ENSMUSG00000001123 0.296330558 O08583 ENSMUSG00000025134 0.178845775
ENSG00000090861 AARS YES 0.037538045 0.0222 0.5914 O08756 ENSMUSG00000025260 0.155198611 O08795 ENSMUSG00000003402 0.057957909 O08573 ENSMUSG00000001123 0.296330558 O08573 ENSMUSG00000001123 0.296330558 O35609 ENSMUSG00000028049 0.116758242 O08663 ENSMUSG00000036112 0.054684359 O35737 ENSMUSG00000007850 0.025827815 O35609 ENSMUSG00000028049 0.116758242 O08709 ENSMUSG00000026701 0.16754717 O08810 ENSMUSG00000020929 0.006140351
ENSG00000136754 ABI1 YES 0.04288612 0.0148 0.3451 O08914 ENSMUSG00000034171 0.184235647 O08807 ENSMUSG00000025289 0.155096355 O08677 ENSMUSG00000022875 0.491639344 O08677 ENSMUSG00000022875 0.491639344 O35737 ENSMUSG00000007850 0.025827815 O08807 ENSMUSG00000025289 0.155096355 O35945 ENSMUSG00000024747 0.134163645 O55029 ENSMUSG00000032458 0.020358961 O08997 ENSMUSG00000018585 0.156136529 O35479 ENSMUSG00000037070 0.01728024
ENSG00000138443 ABI2 YES 0.028582616 0.0073 0.2554 O09174 ENSMUSG00000022244 0.263434675 O08914 ENSMUSG00000034171 0.184235647 O09167 O09167 O55022 ENSMUSG00000006373 0.04902439 O09167 O55029 ENSMUSG00000032458 0.020358961 P04901 ENSMUSG00000029064 0.001075847 O09131 ENSMUSG00000025068 0.19756702 O35691 ENSMUSG00000020994 0.086859064
ENSG00000099204 ABLIM1 YES 0.115200665 0.0554 0.4809 O35423 ENSMUSG00000026272 0.112724976 O35465 ENSMUSG00000019428 0.041906959 O35386 ENSMUSG00000026664 0.267284877 O35623 ENSMUSG00000032757 0.310226493 O70570 ENSMUSG00000026417 0.356399167 O35488 ENSMUSG00000027359 0.151389992 O70404 ENSMUSG00000050732 0.085506287 P08228 ENSMUSG00000022982 0.24039517 O09172 ENSMUSG00000028124 0.063598594 O35841 ENSMUSG00000027193 0.017303371
ENSG00000107897 ACBD5 YES 0.187847498 0.0946 0.5036 O35459 ENSMUSG00000053898 0.211091478 O35488 ENSMUSG00000027359 0.151389992 O35623 ENSMUSG00000032757 0.310226493 O54909 ENSMUSG00000069456 0.280799112 O89079 ENSMUSG00000055681 0.033768986 O35490 ENSMUSG00000069324 0.054926703 O88342 ENSMUSG00000005103 0.048080754 P09813 ENSMUSG00000005681 0.559377402 O35215 O54941 ENSMUSG00000037935 0.039950062
ENSG00000131473 ACLY YES 0.016210173 0.0087 0.5367 O35857 ENSMUSG00000002949 0.053060393 O35887 ENSMUSG00000029767 0.080645161 O35737 ENSMUSG00000007850 0.025827815 O55131 ENSMUSG00000001833 0.377725595 P01887 ENSMUSG00000060802 0.161755583 O35609 ENSMUSG00000028049 0.116758242 O88428 ENSMUSG00000024899 0.081098651 P10630 ENSMUSG00000022884 0.003884181 O35381 ENSMUSG00000032249 0.09919571 O55143 ENSMUSG00000029467 0.012168142
ENSG00000143727 ACP1 YES 0.127712032 0.0777 0.6084 O55125 ENSMUSG00000034285 0.093306764 O54909 ENSMUSG00000069456 0.280799112 O54909 ENSMUSG00000069456 0.280799112 O88451 ENSMUSG00000040134 0.25758223 P01898 ENSMUSG00000067235 0.202824728 O35643 ENSMUSG00000009090 0.024706501 O88451 ENSMUSG00000040134 0.25758223 P11589 O35423 ENSMUSG00000026272 0.112724976 O70133 ENSMUSG00000042699 0.087136073
ENSG00000075624 ACTB YES 0.003286525 0.0022 0.6694 O55126 ENSMUSG00000029432 0.057960488 O55143 ENSMUSG00000029467 0.012168142 O55131 ENSMUSG00000001833 0.377725595 O88962 ENSMUSG00000050445 0.176154923 P01901 ENSMUSG00000061232 0.231996641 O54909 ENSMUSG00000069456 0.280799112 O88560 P14701 O35609 ENSMUSG00000028049 0.116758242 O88558 ENSMUSG00000030447 0.007566426
ENSG00000072110 ACTN1 YES 0.006582278 0.0039 0.5925 O70378 ENSMUSG00000031819 0.04030542 O70503 ENSMUSG00000027195 0.258957655 O88451 ENSMUSG00000040134 0.25758223 O89079 ENSMUSG00000055681 0.033768986 P07309 ENSMUSG00000061808 0.21055409 O55029 ENSMUSG00000032458 0.020358961 O88568 ENSMUSG00000039630 0.060313316 P15532 ENSMUSG00000037601 0.032841024 O35660 O88568 ENSMUSG00000039630 0.060313316
ENSG00000077522 ACTN2 YES 0.004972126 0.0033 0.6637 O88441 ENSMUSG00000027099 0.047305389 O88451 ENSMUSG00000040134 0.25758223 O88962 ENSMUSG00000050445 0.176154923 P01027 ENSMUSG00000024164 0.137464095 P10660 ENSMUSG00000028495 0.000989819 O55142 ENSMUSG00000060636 0.010037348 O88569 ENSMUSG00000004980 0.116772824 P16460 ENSMUSG00000076441 0.024119562 O35678 ENSMUSG00000033174 0.12330168 O88569 ENSMUSG00000004980 0.116772824
ENSG00000130402 ACTN4 YES 0.006863493 0.0063 0.9179 O88844 ENSMUSG00000025950 0.072476857 O88560 O89079 ENSMUSG00000055681 0.033768986 P01898 ENSMUSG00000067235 0.202824728 P11438 ENSMUSG00000031447 0.296613468 O70439 ENSMUSG00000019998 0.049337748 O88686 ENSMUSG00000007033 0.027878422 P17426 ENSMUSG00000060279 0.008881712 O35737 ENSMUSG00000007850 0.025827815 O89086 ENSMUSG00000031167 0.064841257
ENSG00000138107 ACTR1A YES 0 0 0.454 O88986 ENSMUSG00000006378 0.083056478 O88736 ENSMUSG00000026675 0.292906717 P01027 ENSMUSG00000024164 0.137464095 P01901 ENSMUSG00000061232 0.231996641 P11589 O70570 ENSMUSG00000026417 0.356399167 O88736 ENSMUSG00000026675 0.292906717 P26516 ENSMUSG00000039067 0.011650804 O35945 ENSMUSG00000024747 0.134163645 P02304 ENSMUSG00000060981 0.000997183
ENSG00000115073 ACTR1B YES 0.006973294 0.0047 0.674 P00009 P01029 ENSMUSG00000073418 0.191356383 P01898 ENSMUSG00000067235 0.202824728 P02433 P11609 ENSMUSG00000028076 0.422427035 O88342 ENSMUSG00000005103 0.048080754 O89051 ENSMUSG00000022108 0.027077614 P27659 ENSMUSG00000060036 0.009707481 O35969 ENSMUSG00000020150 0.055321539 P02535 ENSMUSG00000019761 0.159781073
ENSG00000213985 ACTR2 YES P00405 ENSMUSG00000064354 0.050341117 P01898 ENSMUSG00000067235 0.202824728 P01901 ENSMUSG00000061232 0.231996641 P04104 ENSMUSG00000046834 0.163513947 P14246 ENSMUSG00000027690 0.18410248 O88428 ENSMUSG00000024899 0.081098651 O89079 ENSMUSG00000055681 0.033768986 P52840 ENSMUSG00000030711 0.170620734 O54754 ENSMUSG00000063558 0.208038317 P05784 ENSMUSG00000023043 0.100383982
ENSG00000115091 ACTR3 YES 0.0036777 0.0011 0.2991 P01027 ENSMUSG00000024164 0.137464095 P04645 P02433 P04186 ENSMUSG00000024371 0.162367491 P18873 ENSMUSG00000031748 0.023590469 O88451 ENSMUSG00000040134 0.25758223 P00186 ENSMUSG00000032310 0.171730056 P56395 ENSMUSG00000024646 0.115994893 O54909 ENSMUSG00000069456 0.280799112 P05810 ENSMUSG00000008859 0.005709836
ENSG00000087274 ADD1 YES 0.094378904 0.0408 0.4323 P02535 ENSMUSG00000019761 0.159781073 P04939 P04104 ENSMUSG00000046834 0.163513947 P04901 ENSMUSG00000029064 0.001075847 P19253 O88560 P00329 ENSMUSG00000074207 0.138816778 P97328 ENSMUSG00000029162 0.223114754 O55060 ENSMUSG00000021376 0.177865613 P08730 ENSMUSG00000044041 0.157630162
ENSG00000106992 AK1 YES 0.093355761 0.0777 0.8323 P04919 ENSMUSG00000006574 0.141585535 P06797 ENSMUSG00000021477 0.154094828 P04186 ENSMUSG00000024371 0.162367491 P05063 ENSMUSG00000017390 0.025419664 P25112 O88568 ENSMUSG00000039630 0.060313316 P01029 ENSMUSG00000073418 0.191356383 P97372 ENSMUSG00000078153 0.084575766 O70194 ENSMUSG00000016554 0.008545487 P10922
ENSG00000154027 AK5 YES 0.075474898 0.0445 0.5896 P05202 ENSMUSG00000031672 0.048299845 P08113 ENSMUSG00000020048 0.025588345 P04901 ENSMUSG00000029064 0.001075847 P06728 ENSMUSG00000032080 0.165582726 P26150 ENSMUSG00000062410 0.243011603 O88569 ENSMUSG00000004980 0.116772824 P01901 ENSMUSG00000061232 0.231996641 Q01768 ENSMUSG00000020857 0.050390227 O70400 ENSMUSG00000055044 0.10338819 P11679 ENSMUSG00000049382 0.039225472
ENSG00000149925 ALDOA YES 0.060758337 0.0266 0.4378 P08730 ENSMUSG00000044041 0.157630162 P09405 ENSMUSG00000026234 0.187221397 P05063 ENSMUSG00000017390 0.025419664 P06909 P26231 ENSMUSG00000037815 0.007971201 O88686 ENSMUSG00000007033 0.027878422 P05784 ENSMUSG00000023043 0.100383982 Q60864 ENSMUSG00000024966 0.022948632 O70456 ENSMUSG00000047281 0.012142792 P14733 ENSMUSG00000024590 0.028204722
ENSG00000109107 ALDOC YES 0.025419664 0.0106 0.417 P09671 ENSMUSG00000006818 0.098039216 P10126 ENSMUSG00000037742 0.002453988 P06728 ENSMUSG00000032080 0.165582726 P07309 ENSMUSG00000061808 0.21055409 P27659 ENSMUSG00000060036 0.009707481 O89079 ENSMUSG00000055681 0.033768986 P06151 ENSMUSG00000063229 0.044313935 Q64374 ENSMUSG00000023070 0.138237159 O70475 ENSMUSG00000029201 0.018577075 P15508 ENSMUSG00000021061 0.057124682
ENSG00000078053 AMPH YES 0.167110773 0.0878 0.5254 P11679 ENSMUSG00000049382 0.039225472 P11174 ENSMUSG00000063457 0.00099499 P06909 P07724 ENSMUSG00000029368 0.217228011 P35279 ENSMUSG00000030704 0.203990025 P00405 ENSMUSG00000064354 0.050341117 P06684 ENSMUSG00000026874 0.233577918 Q64516 ENSMUSG00000025059 0.053094911 O88342 ENSMUSG00000005103 0.048080754 P15864 ENSMUSG00000036181 0.031553614
ENSG00000029534 ANK1 YES 0.072032619 0.0477 0.6622 P11725 ENSMUSG00000031173 0.097964377 P11591 P07309 ENSMUSG00000061808 0.21055409 P08226 ENSMUSG00000002985 0.149719559 P46460 ENSMUSG00000034187 0.016315307 P01027 ENSMUSG00000024164 0.137464095 P06728 ENSMUSG00000032080 0.165582726 Q6PB72 ENSMUSG00000025153 0.094514455 O88428 ENSMUSG00000024899 0.081098651 P17225 ENSMUSG00000006498 0.010468675
ENSG00000185722 ANKFY1 YES 0.051086542 0.0268 0.5246 P12787 ENSMUSG00000000088 0.253415301 P11714 ENSMUSG00000068086 0.220501869 P07724 ENSMUSG00000029368 0.217228011 P09813 ENSMUSG00000005681 0.559377402 P47962 ENSMUSG00000058558 0.017946877 P01887 ENSMUSG00000060802 0.161755583 P07724 ENSMUSG00000029368 0.217228011 Q6ZWV8 ENSMUSG00000015671 0.004982561 O88533 ENSMUSG00000020182 0.096454495 P17317 ENSMUSG00000037894 0
ENSG00000185046 ANKS1B YES 0.141791045 0.0551 0.3886 P12947 P11983 ENSMUSG00000068039 0.042256791 P08226 ENSMUSG00000002985 0.149719559 P09900 P51150 ENSMUSG00000079477 0 P01898 ENSMUSG00000067235 0.202824728 P08226 ENSMUSG00000002985 0.149719559 Q8C5R8 ENSMUSG00000031432 0 O88544 ENSMUSG00000035297 0.004993487 P17717
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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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