CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 17413420 2007
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs397508783
rs397508783
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. 16980811 2006
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493 2006
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 15287992 2004
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. 10875853 2000
dbSNP: rs121908752
rs121908752
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs121908752
rs121908752
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs121908759
rs121908759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs121908759
rs121908759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs121909011
rs121909011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs121909011
rs121909011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs145449046
rs145449046
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs145449046
rs145449046
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 9521595 1998
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online. 10200050 1998
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs397508783
rs397508783
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778 1998
dbSNP: rs397508783
rs397508783
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998