CTRC, chymotrypsin C, 11330

N. diseases: 56; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142560329
rs142560329
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease:
Hereditary pancreatitis
0.700 GeneticVariation UNIPROT Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants. 22580415 2013
dbSNP: rs142560329
rs142560329
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease:
Hereditary pancreatitis
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
rs142560329
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease:
Hereditary pancreatitis
0.700 GeneticVariation UNIPROT Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. 18172691 2008
dbSNP: rs142560329
rs142560329
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease:
Hereditary pancreatitis
0.700 GeneticVariation UNIPROT Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. 18059268 2008