Coronary heart disease
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CFTR compound heterozygous status with variant classes CF-causing severe and mild represented an OR of 16.1 (p<0.0001).
|
22427236 |
2013 |
Cystic Fibrosis
|
1.000 |
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 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hereditary pancreatitis
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
Hereditary pancreatitis
|
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 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Bronchiectasis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cholestasis
|
0.500 |
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 |
Carrier status
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Carrier status
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Ciliopathies
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Ciliopathies
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Ciliopathies
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cystic fibrosis mutation frequencies in upstate New York.
|
9401006 |
1997 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sec16A is critical for both conventional and unconventional secretion of CFTR.
|
28067262 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
|
9554753 |
1998 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
|
7541273 |
1995 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR).
|
8522333 |
1995 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
|
2236053 |
1990 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
|
7683954 |
1993 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD).
|
20691141 |
2010 |