Annotation Detail

Information
Associated Genes
ENPP1
Associated Variants
ENPP1 MUTATION
ENPP1 MUTATION
Associated Disease
Nevus elasticus
Source Database
DisGeNET
Description
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
Pubmed
25615550
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
DisGENET score for the Gene Disease association
0.00108576748832121
Drugs