Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- Hypocalciuric hypercalcemia, familial, type 1
- Source Database
- DisGeNET
- Description
- In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S).
- Pubmed
- 16497624
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.588425451698311
- Year of publication
- 2006
Drugs