Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary pancreatitis
|
0.820 | GeneticVariation | BEFREE | The results indicate that mutation-induced misfolding and intracellular retention of human cationic trypsinogen causes hereditary pancreatitis in carriers of the p.R116C mutation. | 19191323 | 2009 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. | 15776435 | 2005 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). | 14695529 | 2004 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. | 11788572 | 2002 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. | 11866271 | 2002 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | BEFREE | R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. | 11842279 | 2001 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. | 10930381 | 2000 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. | 11073545 | 2000 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. | 10204851 | 1999 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. | 10381903 | 1999 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Mutations of the cationic trypsinogen in hereditary pancreatitis. | 9633818 | 1998 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. | 9322498 | 1997 | |||||
Hereditary pancreatitis
|
0.820 | GeneticVariation | UNIPROT | Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. | 8841182 | 1996 | |||||
Hereditary pancreatitis
|
0.820 | CausalMutation | CLINVAR |