DOLK, dolichol kinase, 22845

N. diseases: 38; N. variants: 7
Disease: Familial dilated cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation disease ORPHANET Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 22242004 2011