DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hereditary pancreatitis ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.730

CausalMutation

CLINVAR

Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

20977904

2011

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.730

GeneticVariation

CLINVAR

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

CausalMutation

CLINVAR

Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.

18059268

2008

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

22427236

2013

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

CausalMutation

CLINVAR

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

18172691

2008

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

CausalMutation

CLINVAR

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

22942235

2013

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

CausalMutation

CLINVAR

"Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for ""protective"" (PRSS2) and ""destructive"" (CTRC) genetic factors."

20625975

2011

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

GeneticVariation

CLINVAR

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

22942235

2013

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

Chronic pancreatitis: genetics and pathogenesis.

19453252

2009

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

22942235

2013

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

CausalMutation

CLINVAR

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

22427236

2013

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

25569187

2015

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

18172691

2008

Entrez Id:	11330
Gene Symbol:	CTRC

CTRC

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.750

SusceptibilityMutation

CLINVAR

Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis.

18059268

2008

Entrez Id:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

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:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

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:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

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

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

The natural history of hereditary pancreatitis: a national series.

18755888

2009

Entrez Id:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

An overview of hereditary pancreatitis.

21907651

2012

Entrez Id:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

16791840

2006

Entrez Id:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

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

CUI:	C0238339
Disease:	Hereditary pancreatitis

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

CUI:	C0238339
Disease:	Hereditary pancreatitis

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:	5644
Gene Symbol:	PRSS1

PRSS1

CUI:	C0238339
Disease:	Hereditary pancreatitis

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

CUI:	C0238339
Disease:	Hereditary pancreatitis

Hereditary pancreatitis

0.800

CausalMutation

CLINVAR

Clinical and genetic characteristics of hereditary pancreatitis in Europe.

15017610

2004