PRSS2, serine protease 2, 5645

N. diseases: 66; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 GeneticVariation disease BEFREE Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated. 27129265 2016
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 Biomarker disease BEFREE We have recently reported that the triplication of a approximately 605 kilobase segment containing the PRSS1 (encoding cationic trypsinogen) and PRSS2 (encoding anionic trypsinogen) genes causes hereditary pancreatitis. 18063422 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 GeneticVariation disease ORPHANET Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses. 18461367 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 GeneticVariation disease BEFREE Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses. 18461367 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 Biomarker disease GENOMICS_ENGLAND A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. 16699518 2006
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.630 Biomarker disease CTD_human