DisGeNET - a database of gene-disease associations

SPINK1, serine peptidase inhibitor Kazal type 1, 6690

N. diseases: 10; N. variants: 13

Source: CURATED ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis.

28984793

2018

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.

19299380

2009

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

GeneticVariation

UNIPROT

The SPINK1 N34S variant is associated with acute pancreatitis.

18617776

2008

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

17568390

2007

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.

17525091

2007

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

17466744

2007

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

GeneticVariation

UNIPROT

Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

12974284

2003

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

SusceptibilityMutation

CLINVAR

Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

12483248

2002

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

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

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.870

CausalMutation

CLINVAR

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

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

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

GeneticVariation

UNIPROT

The SPINK1 N34S variant is associated with acute pancreatitis.

18617776

2008

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

GeneticVariation

UNIPROT

Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

12974284

2003

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

GeneticVariation

UNIPROT

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

10835640

2000

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

GeneticVariation

UNIPROT

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

10691414

2000

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893939

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0238339
Disease:

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

dbSNP:

rs17107315

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C1842402
Disease:

TROPICAL CALCIFIC PANCREATITIS

0.750

GeneticVariation

UNIPROT

SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

12187509

2002