Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. 27467858 2016
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. 23430823 2011
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 15940697 2005
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 15605415 2005
dbSNP: rs764735802
rs764735802
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C4551985
Disease:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		0.700 GeneticVariation UNIPROT Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 12881724 2003