Disease: Arterial calcification of infancy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374270497
rs374270497
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C1859727
Disease:
Arterial calcification of infancy 		A 0.700 CausalMutation CLINVAR Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
dbSNP: rs1243920034
rs1243920034
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
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