DNAH8, dynein axonemal heavy chain 8, 1769

N. diseases: 120; N. variants: 43
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777064945
rs777064945
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE Two mutations were identified (E40A and I61Q) with DCM properties (decreased Ca(2+) sensitivity, maximal force recovery, and activation of the ATPase at high [Ca(2+)]). 20566645 2010