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 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). 9067761 1997
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 7539342 1995
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. 20100616 2010
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: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 9254864 1997
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 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962 1995
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: 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: 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 Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337 2011
dbSNP: rs151048781
rs151048781
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716 2009
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: rs1800098
rs1800098
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1800098
rs1800098
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
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: 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: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 9305991 1997
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here. 19810821 2009
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 GeneticVariation CLINVAR Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962 1995
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: rs200321110
rs200321110
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.800 CausalMutation CLINVAR
dbSNP: rs200321110
rs200321110
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
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