Annotation Detail

Information
Associated Genes
ENPP1
Associated Variants
ENPP1 MUTATION
ENPP1 MUTATION
Associated Disease
arterial calcification of infancy
Source Database
DisGeNET
Description
Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene.
Pubmed
25479107
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.562171534976642
Drugs