Annotation Detail
Information
- Associated Genes
- ADH1A
- Associated Variants
-
ADH1A MUTATION
ADH1A MUTATION - Associated Disease
- Hypercalciuria
- Source Database
- DisGeNET
- Description
- Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum PTH concentrations and hypercalciuria.
- Pubmed
- 26052899
- 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
- 0.000271441872080303
Drugs