G2Cdb::Human Disease report

Disease id
D00000166
Name
Schizophrenia
Nervous system disease
yes

Genes (20)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (16508936) Single nucleotide polymorphism (SNP) Y
G00001313 GRM5
glutamate receptor, metabotropic 5
Y (11326300) Microinsertion (MI) Y
G00001313 GRM5
glutamate receptor, metabotropic 5
Y (11326300) Repeat polymorphism (RP) Y
G00001369 HOMER1
homer homolog 1 (Drosophila)
Y (12815733) Single nucleotide polymorphism (SNP) N
G00001881 L1CAM
L1 cell adhesion molecule
Y (11425011) Single nucleotide polymorphism (SNP) Y
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (11109007) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (11326295) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (11326295) Deletion (D) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (11326295) Microinsertion/deletion (MI/D) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (12210277) Microdeletion/insertion (MD/I) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (12363394) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (12454527) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (12679240) Single nucleotide polymorphism (SNP) Y
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (12707933) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (15841096) Single nucleotide polymorphism (SNP) ?
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (9800222) Repeat polymorphism (RP) Y
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (11353443) Repeat polymorphism (RP) N
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (15276701) Repeat polymorphism (RP) Y
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (11807411) Repeat polymorphism (RP) N
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (15999343) Single nucleotide polymorphism (SNP) Y
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (15318030) Polymorphism (P) N
G00002208 AKAP5
A kinase (PRKA) anchor protein 5
Y (16434481) Copy Number Polymorphism (CNP) Y
G00001970 SYNGR1
synaptogyrin 1
Y (14732601) Nonsense (No) Y
G00001970 SYNGR1
synaptogyrin 1
Y (17049558) Single nucleotide polymorphism (SNP) ?
G00001970 SYNGR1
synaptogyrin 1
Y (17049558) Microinsertion (MI) ?
G00001970 SYNGR1
synaptogyrin 1
Y (17049558) Insertion (I) ?
G00000026 GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Y (15774266) Repeat polymorphism (RP) Y
G00000026 GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Y (12724619) Repeat polymorphism (RP) Y
G00001420 GSK3B
glycogen synthase kinase 3 beta
Y (15719395) Single nucleotide polymorphism (SNP) N
G00002531 SNAP25
synaptosomal-associated protein, 25kDa
Y (11287790) Repeat polymorphism (RP) Y
G00002531 SNAP25
synaptosomal-associated protein, 25kDa
Y (15823421) Polymorphism (P) Y
G00001806 PLP1
proteolipid protein 1
Y (15694262) Single nucleotide polymorphism (SNP) Y
G00002164 IRS1
insulin receptor substrate 1
Y (17044098) Single nucleotide polymorphism (SNP) N
G00000029 DLG4
discs, large homolog 4 (Drosophila)
Y (16530958) Polymorphism (P) N
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (12140778) Single nucleotide polymorphism (SNP) Y
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (14623375) Repeat polymorphism (RP) N
G00001922 STX1A
syntaxin 1A (brain)
Y (15219469) Single nucleotide polymorphism (SNP) Y
G00001690 DPYSL2
dihydropyrimidinase-like 2
Y (16321170) Single nucleotide polymorphism (SNP) N
G00000027 GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Y (16549338) Polymorphism (P) Y
G00000027 GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Y (15841096) Single nucleotide polymorphism (SNP) ?
G00000027 GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Y (10910800) Single nucleotide polymorphism (SNP) N
G00000027 GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Y (11317224) Single nucleotide polymorphism (SNP) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (8942465) Repeat polymorphism (RP) N
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (12467946) Single nucleotide polymorphism (SNP) N
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (15305151) Unknown (?) Y
G00002118 DLGAP1
discs, large (Drosophila) homolog-associated protein 1
Y (12950712) Single nucleotide polymorphism (SNP) N

References

Literature (40)

Pubmed - human_disease

Pubmed - other

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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