Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Arg122His (p.R122H)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Thr (p.N29T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Ile (p.N29I) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000486171.5, ENST00000492062.2, ENST00000311737.12 )
PRSS1 p.Asn29Thr (p.N29T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asn29Ile (p.N29I) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg122His (p.R122H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Pancreatitis, Chronic
- Source Database
- DisGeNET
- Description
- Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chronic pancreatitis with R122H or N29I mutation of the CT gene, or (2) recurrent acute or chronic pancreatitis with a family history of 2 or more affected patients, irrespective of generation, with at least 1 of the patients having no known etiological factors, and in case of siblings only, the onset of the disease in at least 1 of the patients is under age 40 years.
- Pubmed
- 15028953
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.173754217281806
- Year of publication
- 2004
Drugs