Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
CFTR p.Gln1352His (p.Q1352H) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Gln1352His (p.Q1352H) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
CFTR p.Gln1352His (p.Q1352H) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Gln1352His (p.Q1352H) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- Pancreatitis, Alcoholic
- Source Database
- DisGeNET
- Description
- This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea.
- Pubmed
- 16187186
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0184693169547763
- Year of publication
- 2005
Drugs