Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Glu614Lys (p.E614K)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Glu614Lys (p.E614K) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypoparathyroidism - autosomal dominant
- Source Database
- DisGeNET
- Description
- Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
- Pubmed
- 12574188
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.130857674883212
- Year of publication
- 2003
Drugs