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
- Genetic testing showed homozygous SPINK1-N34S mutation, which is an established risk factor for chronic pancreatitis.
- Pubmed
- 15875176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.220099677972261
- Year of publication
- 2005
Drugs