DisGeNET - a database of gene-disease associations

Hereditary pancreatitis, C0238339

Gene: CTRC ×

Source: UNIPROT ×

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:

rs121909293

CTRC

0.800

GeneticVariation

UNIPROT

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

22580415

2013

dbSNP:

rs121909293

CTRC

0.800

GeneticVariation

UNIPROT

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

22942235

2013

dbSNP:

rs121909293

CTRC

0.800

GeneticVariation

UNIPROT

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

18059268

2008

dbSNP:

rs121909293

CTRC

0.800

GeneticVariation

UNIPROT

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

18172691

2008

dbSNP:

rs142560329

CTRC

0.700

GeneticVariation

UNIPROT

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

22580415

2013

dbSNP:

rs142560329

CTRC

0.700

GeneticVariation

UNIPROT

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

22942235

2013

dbSNP:

rs200678111

CTRC

0.700

GeneticVariation

UNIPROT

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

22580415

2013

dbSNP:

rs200678111

CTRC

0.700

GeneticVariation

UNIPROT

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

22942235

2013

dbSNP:

rs202058123

CTRC

0.700

GeneticVariation

UNIPROT

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

22580415

2013

dbSNP:

rs202058123

CTRC

0.700

GeneticVariation

UNIPROT

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

22942235

2013

dbSNP:

rs142560329

CTRC

0.700

GeneticVariation

UNIPROT

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

18059268

2008

dbSNP:

rs142560329

CTRC

0.700

GeneticVariation

UNIPROT

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

18172691

2008

dbSNP:

rs200678111

CTRC

0.700

GeneticVariation

UNIPROT

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

18172691

2008

dbSNP:

rs200678111

CTRC

0.700

GeneticVariation

UNIPROT

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

18059268

2008

dbSNP:

rs202058123

CTRC

0.700

GeneticVariation

UNIPROT

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

18059268

2008

dbSNP:

rs202058123

CTRC

0.700

GeneticVariation

UNIPROT

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

18172691

2008

dbSNP:

rs140993290

CTRC

0.700

GeneticVariation

UNIPROT