PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507442
rs397507442
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0030305
Disease:
Pancreatitis 		0.020 GeneticVariation BEFREE 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. 17148697 2006
dbSNP: rs397507442
rs397507442
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0030305
Disease:
Pancreatitis 		0.020 GeneticVariation BEFREE The activation peptides of the trypsinogen variants D22G and K23R could be released at a higher rate than in wild-type trypsinogen, resulting in increased amounts of trypsin in the pancreas, which could initiate pancreatitis. 10930381 2000