Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- exocrine pancreatic insufficiency
- Source Database
- DisGeNET
- Description
- [The prevalence of CP, especially in women, increased over time. Genetic causes that partly or totally could explain the CP were found in 54.90% (95% CI (40.45-68.62)) of those with idiopathic CP, as a minimum estimation 1.9% (95% CI (1.00-3.47)) of the to]
- Pubmed
- 20108119
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2010
Drugs