Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 MUTATION
ENPP1 MUTATION - Associated Disease
- Hypophosphatemic rickets
- Source Database
- DisGeNET
- Description
- Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively).
- Pubmed
- 25042154
- 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
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs