Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 MUTATION
ENPP1 MUTATION - Associated Disease
- pseudoxanthoma elasticum
- Source Database
- DisGeNET
- Description
- After correction for multiple testing according to the Bonferroni method, one SNV in the ENPP1 gene (c.313+9G>T, rs7773477) remained significantly associated with PXE with significantly higher MAF values in the patient cohort (MAF: 0.04 vs. 0.00; P=0.0024) and a high association with PXE susceptibility (OR 27.96).
- Pubmed
- 25025693
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.122171534976642
Drugs