Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 MUTATION
ENPP1 MUTATION - Associated Disease
- pseudoxanthoma elasticum
- Source Database
- DisGeNET
- Description
- The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and gamma-glutamyl carboxylase (GGCX) can cause resembling phenotypes.
- Pubmed
- 25264593
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.122171534976642
Drugs