Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 MUTATION
ENPP1 MUTATION - Associated Disease
- pseudoxanthoma elasticum
- 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,ORPHANET
- DisGENET score for the Gene Disease association
- 0.122171534976642
Drugs