rs1243920034, ENPP1

N. diseases: 2
Disease: Arterial calcification of infancy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arterial calcification of infancy
CUI: C1859727
Disease: Arterial calcification of infancy
0.010 GeneticVariation BEFREE Sequencing of ENPP1 disclosed a homozygous missense mutation, p.Y513C, associated with generalized arterial calcification of infancy. 22229486 2012