Gene: CFTR ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 Biomarker disease GENOMICS_ENGLAND CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? 22427236 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 GeneticVariation disease ORPHANET Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. 22572128 2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 CausalMutation disease 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 		0.730 GeneticVariation disease BEFREE In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance regulator gene (CFTR) and serine protease inhibitor Kazal type 1 gene (SPINK1) mutations with patients who retained the diagnosis of true idiopathic pancreatitis (tIP) after genetic testing for HP, SPINK1, and CFTR mutations. 20502448 2010
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 GeneticVariation disease BEFREE However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. 10653140 2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 GeneticVariation disease BEFREE Evidence of genetic heterogeneity of HP is reviewed and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations detected in HP families are re-evaluated. 10909845 2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 Biomarker disease GENOMICS_ENGLAND Recommendations for management of liver and biliary tract disease in cystic fibrosis. Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. 9934970 1999
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 GeneticVariation disease CLINVAR
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		0.730 Biomarker disease CTD_human