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
The results demonstrated that 3 of 8 patients with CPPCa (37.5%) had the SPINK 1 gene N34S mutation.
Pubmed
19896093
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.220099677972261
Year of publication
2009
Drugs