Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000510027.2, ENST00000296695.10 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000486171.5, ENST00000492062.2, ENST00000311737.12 )
PRSS3 p.Arg122His (p.R122H) ( ENST00000361005.10, ENST00000379405.4, ENST00000429677.8 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS3 p.Arg122His (p.R122H) ( ENST00000361005.10, ENST00000379405.4, ENST00000429677.8 ) - Associated Disease
- acute pancreatitis
- Source Database
- DisGeNET
- Description
- The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP.
- Pubmed
- 21303407
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00698154380396719
- Year of publication
- 2011
Drugs