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
Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report from Finland.
Pubmed
15764155
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.220099677972261
Year of publication
2005
Drugs