×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
10835640 2000
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype.
8841182 1996
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.
26632706 2015
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
23951356 2013
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.
16849362 2006
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
17568390 2007
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.
17466744 2007
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
9322498 1997
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
The natural history of hereditary pancreatitis: a national series.
18755888 2009
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation.
23741238 2013
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
An overview of hereditary pancreatitis.
21907651 2012
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.
28984793 2018
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
17568390 2007
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.
22572128 2012
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
16791840 2006
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
18978175 2009
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
10835640 2000
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
17003641 2006
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
30420730 2018
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
19951905 2010
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
14722925 2004
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
SusceptibilityMutation
CLINVAR
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
18414673 2008
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
16954950 2006
×
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Clinical and genetic characteristics of hereditary pancreatitis in Europe.
15017610 2004
×
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
Hereditary pancreatitis
0.800
CausalMutation
CLINVAR
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.
15980664 2005