Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Gly509Arg (p.G509R)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Gly509Arg (p.G509R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypocalciuric hypercalcemia, familial, type 1
- Source Database
- DisGeNET
- Description
- Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
- Pubmed
- 17698911
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.588425451698311
- Year of publication
- 2007
Drugs