| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | Biomarker | group | BEFREE | In this study, we hypothesised that immunoreactive trypsinogen (IRT) levels, used in NBS as a marker of pancreatic disease and function, may reflect the degree of CFTR dysfunction in each individual and therefore would help to identify those with CRMS/CSPID who are later at risk for meeting the criteria of CF. | 31640630 | 2019 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are common in white persons and are associated with pancreatic disease. | 19885835 | 2010 | ||||
|
0.170 | Biomarker | group | BEFREE | Although the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) has been targeted in mice, CF mice fail to develop lung or pancreatic disease like that in humans. | 18487356 | 2008 | ||||
|
0.170 | GeneticVariation | group | LHGDN | Alcoholics with homozygous (TG)11 alleles in intron 8 of the CFTR gene appear to be protected against decreased MBC, compared with those who have the (TG)11/(TG)12 and (TG)12/(TG)12 genotypes, suggesting a role for CFTR gene polymorphism in the progression of alcohol-related pancreatic disease. | 15645646 | 2004 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Mutations of the CFTR gene in pancreatic disease. | 14576497 | 2003 | ||||
|
0.170 | GeneticVariation | group | BEFREE | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. | 12952861 | 2003 | ||||
|
0.170 | GeneticVariation | group | LHGDN | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. | 12952861 | 2003 | ||||
|
0.170 | GeneticVariation | group | BEFREE | Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than in Caucasians. | 9150159 | 1997 | ||||
|
0.170 | CausalMutation | group | CLINVAR |