Annotation Detail
Information
- Associated Genes
- PRSS2
- 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 )
PRSS3 p.Gly191Arg (p.G191R) ( 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 )
PRSS3 p.Gly191Arg (p.G191R) ( ENST00000361005.10, ENST00000379405.4, ENST00000429677.8 ) - Associated Disease
- acute pancreatitis
- Source Database
- DisGeNET
- Description
- A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing.
- Pubmed
- 21303407
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs