CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. 10875853 2000
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Cases 1, 2 and 3 presented with CBAVD after which CFTR screening by mutation panel analysis was negative. 31672438 2019
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493 2006
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). 15580565 2005
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337 2011
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Novel CFTR gene mutation in a patient with CBAVD. 17398169 2007
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease UNIPROT Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 7539342 1995
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease UNIPROT Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. 7529962 1995
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma. 23378603 2013
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE A polyvariant mutant CFTR gene is the most frequent CBAVD causing mutant CFTR gene. 15379964 2004
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population. 9678705 1998
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE To identify CFTR promoter region mutations in Chinese CBAVD patients, fragments 1.4 kb upstream of the ATG start codon of the CFTR gene were sequenced in 66 Chinese patients with CBAVD and compared to the corresponding sequences from 60 healthy subjects and sequence data present in the NCBI database. 29864494 2018
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles. 30811104 2019
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD. 7539210 1995
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. 18796364 2008
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype. 10386624 1999
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE This case report documents for the first time a male phenotype associated with the p.P841R mutation and underlines the difficulties in counseling a man with congenital bilateral absence of the vas deferens carrying uncommon mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene before ICSI. 18703181 2008
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD). 15870824 2005
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease CLINVAR Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. 8947061 1996
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. 26989879 2016
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE Through our study of MRI, SV agenesis is not well associated with the presence of CFTR mutation in patients with CAVD. 23768522 2013
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE I556V is the major common type of CFTR mutations in Chinese patients with CBAVD. 23953609 2013
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD: The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men. 7739684 1995
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease BEFREE These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. 22103471 2012
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GeneticVariation disease CLINVAR Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. 9435322 1998