Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population).
- Pubmed
- 18076731
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.413567379170546
- Year of publication
- 2008
Drugs