Variant: rs374270497 

    present in Gene: ENPP1
    present in Chromosome: 6
    Position on Chromosome: 131860504
    Alleles of this Variant: C/A;T

rs374270497 in ENPP1 gene and ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 PMID 20016754 2008 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

PMID 15605415 2005 The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

PMID 15940697 2005 Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PMID 12881724 2003 Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

PMID 27467858 2016 Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

PMID 23430823 2011 Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

PMID 16315058 2006 Generalized arterial calcification of infancy: two siblings with prolonged survival.

rs374270497 in ENPP1 gene and Arterial calcification of infancy PMID 20016754 2008 Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.