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
- Malignant neoplasm of pancreas
- Source Database
- DisGeNET
- Description
- Patients with the N34S mutation presented with earlier symptom onset and more dilatation of the main pancreatic duct, followed by more frequent surgical and/or endoscopic intervention and pancreatic cancer development than those without SPINK1 mutations.
- Pubmed
- 17238043
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0074484826780071
- Year of publication
- 2007
Drugs