Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Arg185Gln (p.R185Q)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Arg185Gln (p.R185Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Neonatal hyperparathyroidism
- Source Database
- DisGeNET
- Description
- Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
- Pubmed
- 21289269
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2011
Drugs