G2Cdb::Gene report

Gene id: G00002430
Gene symbol: MYH6 (HGNC)
Species: Homo sapiens
Description: myosin, heavy chain 6, cardiac muscle, alpha
Orthologue: G00001181 (Mus musculus)

Databases (9)
Diseases (6)
Literature (55)
Gene lists (2)

Databases (9)

Curated Gene: OTTHUMG00000028755 (Vega human gene)
Gene: ENSG00000092054 (Ensembl human gene); 4624 (Entrez Gene); 172 (G2Cdb plasticity & disease); MYH6 (GeneCards)
Literature: 160710 (OMIM)
Marker Symbol: HGNC:7576 (HGNC)
Protein Expression: 1239 (human protein atlas)
Protein Sequence: P12883 (UniProt)

Diseases (6)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000235: Hypertrophic cardiomyopathy	N	Y	(15010274)	Polymorphism (P)	Y
D00000255: Myosin storage myopathy	N	Y	(15136674)	Single nucleotide polymorphism (SNP)	Y
D00000209: Myopathy (early onset distal)	N	Y	(15322983)	Polymorphism (P)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15358028)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15358028)	Deletion (D)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(15483641)	Polymorphism (P)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(15528230)	Polymorphism (P)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15563892)	Polymorphism (P)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15569455)	Unknown (?)	Y
D00000255: Myosin storage myopathy	N	Y	(15699387)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15706574)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15769782)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15819282)	Unknown (?)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15856146)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(15858117)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15940186)	Polymorphism (P)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16137545)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16504640)	Polymorphism (P)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16630449)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16650083)	Microinsertion (MI)	Y
D00000255: Myosin storage myopathy	N	Y	(16684601)	Single nucleotide polymorphism (SNP)	Y
D00000284: Increased left ventricular wall thickness	N	Y	(16754800)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16858239)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16938236)	Single nucleotide polymorphism (SNP)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(17081393)	No mutation found (N)	N
D00000235: Hypertrophic cardiomyopathy	N	Y	(17097032)	Single nucleotide polymorphism (SNP)	Y
D00000255: Myosin storage myopathy	N	Y	(17118657)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(17125710)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(17288815)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(17288815)	Microinsertion (MI)	Y
D00000255: Myosin storage myopathy	N	Y	(17336526)	Single nucleotide polymorphism (SNP)	Y
D00000256: Scapulo-peroneal myopathy	N	Y	(17336526)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(17347475)	No mutation found (N)	N

References

Literature (55)

Pubmed - human_disease

Pubmed - other

Gene lists (2)

Gene List	Source	Species	Name	Description	Gene count
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121