CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.730 GeneticVariation disease CLINVAR
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.730 Biomarker disease CTD_human
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.600 GeneticVariation disease CLINVAR
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.600 CausalMutation disease CLINVAR
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.600 Biomarker disease CTD_human
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.500 Biomarker disease HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.500 CausalMutation disease CLINVAR
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.500 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype HPO
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.500 CausalMutation disease CLINVAR
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.500 Biomarker disease HPO
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease HPO
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		0.400 Biomarker disease HPO
CUI: C0449439
Disease: Carrier status
Carrier status 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0449439
Disease: Carrier status
Carrier status 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		0.300 Biomarker disease CTD_human
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND