Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Thr151Met (p.T151M)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Thr151Met (p.T151M) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypoparathyroidism - autosomal dominant
- Source Database
- DisGeNET
- Description
- The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
- Pubmed
- 8698326
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.130857674883212
- Year of publication
- 1996
Drugs