Annotation Detail
Information
- Associated Genes
- ADH1A
- Associated Variants
-
ADH1A MUTATION
ADH1A MUTATION - Associated Disease
- Hypoparathyroidism - autosomal dominant
- Source Database
- DisGeNET
- Description
- The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).
- Pubmed
- 26052899
- 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
- 0.000271441872080303
Drugs