ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Idiopathic arterial calcification of infancy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264955
Disease: Idiopathic arterial calcification of infancy
Idiopathic arterial calcification of infancy 		0.300 GermlineCausalMutation disease ORPHANET Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012