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
- Source Database
- DisGeNET
- Description
- We report a case of pancreatic cancer associated with chronic calcifying pancreatitis in a patient with a homozygous N34S mutation in the SPINK1 gene.
- Pubmed
- 15084977
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.238052024572807
- Year of publication
- 2004
Drugs