DisGeNET - a database of gene-disease associations

Pancreatitis, C0030305

Variant: rs17107315 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Our findings suggest protein structural changes in the N34S variant as an impairment of SPINK1 and environmental pH shift as a trigger that could play a role in disease progression of pancreatitis.

31525466

2020

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

SPINK1 related pancreatitis is associated with earlier onset and pancreatic insufficiencies. p.N34S SPINK1 may well be associated with cancer.

31628023

2019

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

The results indicated that SPINK1 gene, particularly the N34S mutation, has a genetic association with the development of pancreatitis.

28984793

2018

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

No further SPINK1 p.N34S (n=4) mutations were detected but the probability of either CTRC or SPINK1 mutations in pHPT patients with pancreatitis is high (P<0.05).

20625975

2011

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatitis that might ultimately lead to pancreatic insufficiency.

21375584

2011

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

There was no association between the various CASR genotypes and SPINK1 N34S in pancreatitis.

18680227

2008

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population).

18076731

2008

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Again, only the patient with the combination of both CASR and N34S SPINK1 gene mutation developed pancreatitis, whereas in the healthy parents and children only an isolated CASR or N34S SPINK1 gene mutation could be detected.

16497624

2006

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

A genetic variant of PSTI, N34S, is associated with the development of pancreatitis.

16254194

2006

dbSNP:

rs17107315

SPINK1

0.100

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:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

We tested the hypothesis that the pancreatitis-associated N34S mutation of SPINK1 is also a risk factor for chronic parotitis.

15753612

2004

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

N34S, a pancreatitis associated SPINK1 mutation, is not associated with sporadic pancreatic cancer.

12649567

2003

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

The N34S mutation was found in six familial pancreatitis patients (three families) and in one juvenile pancreatitis patient, and the R67C mutation was found in one familial pancreatitis patient and one juvenile pancreatitis patient.

12743777

2003

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both.

12227654

2002

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Mechanisms other than the conformational change of PSTI associated with amino-acid substitution, such as abnormal splicing, may underlie the predisposition to pancreatitis in patients with the N34S mutation.

12483248

2002

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

Segregation of the N34S mutation in families with pancreatitis is unexplained and points to a complex association between N34S and another putative pancreatitis related gene.

11950815

2002

dbSNP:

rs17107315

SPINK1

0.100

GeneticVariation

BEFREE

The severity of pancreatitis did not differ between TCP patients with or without N34S, or among those heterozygous or homozygous for N34S.

12360463

2002

dbSNP: