Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.410 GermlineCausalMutation ORPHANET Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.700 GermlineCausalMutation ORPHANET MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526

2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		0.440 GermlineCausalMutation ORPHANET Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. 23956225

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.470 GermlineCausalMutation ORPHANET Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve. 25415959

2014