Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
PRSS1 p.Ala16Val (p.A16V)
(
ENST00000311737.12,
ENST00000486171.5,
ENST00000492062.2 )
PRSS1 p.Ala16Val (p.A16V) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
- Pubmed
- 19951905
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.413567379170546
- Year of publication
- 2010
Drugs