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
To test the hypothesis that calcium sensing receptor (CASR) polymorphisms are associated with chronic pancreatitis (CP), and to determine whether serine protease inhibitor Kazal 1type (SPINK1) N34S or alcohol are necessary co-factors in its etiology.
Pubmed
18680227
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.220099677972261
Year of publication
2008
Drugs