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 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000510027.2, ENST00000296695.10 )
PRSS1 p.Ala16Val (p.A16V) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asp22Gly (p.D22G) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Lys23Arg (p.K23R) ( 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 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
PRSS1 p.Ala16Val (p.A16V) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asp22Gly (p.D22G) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Lys23Arg (p.K23R) ( 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) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis.
- Pubmed
- 17148697
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.413567379170546
- Year of publication
- 2006
Drugs