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
- Pancreatitis, Chronic
- Source Database
- DisGeNET
- Description
- Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP.
- Pubmed
- 12014716
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.220099677972261
- Year of publication
- 2002
Drugs