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: 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: 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
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: 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