rs1243920034, ENPP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
0.700 GeneticVariation UNIPROT
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