|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.
|
28984793 |
2018 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
|
28556356 |
2017 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.
|
28546062 |
2017 |
|
Hereditary pancreatitis
|
|
0.870 |
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 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), one patient had chronic pancreatitis of unknown etiology, and one patient with annular pancreas developed obstructive chronic pancreatitis.
|
24210198 |
2013 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
UNIPROT |
SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.
|
19888199 |
2010 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.
|
19299380 |
2009 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
UNIPROT |
The SPINK1 N34S variant is associated with acute pancreatitis.
|
18617776 |
2008 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
|
18414673 |
2008 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.
|
17466744 |
2007 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP.
|
17613931 |
2007 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
|
17525091 |
2007 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
The prevalences of [N34S; IVS1-37T>C] and [-215G>A; IVS3 + 2T>C] were significantly higher in patients with familial pancreatitis (38 and 13%, respectively) and with idiopathic CP (13 and 16%) than normal subjects (0.6 and 0%).
|
15980664 |
2005 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis.
|
15084977 |
2004 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.
|
12974284 |
2003 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.
|
12483248 |
2002 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
N34S was found in 4/108 affected HP patients (p=0.724 v controls), in 3/27 (11%) with wild-type and in 1/81 (1%) with mutant PRSS1, and 4/67 ACP patients (all p>0.05 v controls).
|
11950815 |
2002 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1).
|
11729110 |
2001 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
|
10691414 |
2000 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
|
10835640 |
2000 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
|
10835640 |
2000 |
|
Hereditary pancreatitis
|
|
0.870 |
CausalMutation
|
CLINVAR |
|
|
|
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.
|
19404200 |
2009 |