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
pancreatic carcinoma
Source Database
DisGeNET
Description
Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving the SPINK1 gene mutation N34S.
Pubmed
15084977
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Year of publication
2004
Drugs