Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE In the routine clinical workup of infertile men, patients with an absence of vas deferens are screened for CFTR variants. 31672438 2019
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens. 31709488 2019
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 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: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens. 26277102 2015
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene mutations are still lacking. 24958810 2014
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. 22103471 2012
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens. 22148899 2012
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia. 22340520 2012
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens. 19181743 2009
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Extended CFTR mutation screening was performed in 310 infertile men (25 with congenital absence of the vas deferens (CAVD), 116 with non-CAVD azoospermia, 169 with severe oligospermia), 70 female partners and 96 healthy controls. 20021716 2009
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE The present screening strategy allowed a higher mutation detection rate than previous studies, with at least one cystic fibrosis transmembrane conductance regulator gene mutation found in all patients with congenital absence of the vas deferens. 17413420 2007
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 Biomarker disease BEFREE Mutations of CFTR gene are responsible for cystic fibrosis (CF) and other clinical conditions such as congenital absence of the vas deferens (CAVD), chronic pancreatitis (IP), and idiopathic disseminated bronchiectasis (DBE) classified as CFTR-related disorders. 16379540 2005
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral (CUAVD) congenital absence of the vas deferens remain to be evaluated. 15333598 2004
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE CFTR gene mutations were commonly seen in men with congenital absence of the vas deferens, but also in 16% of men with azoospermia without any apparent abnormality of the vas deferens. 11756355 2002
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 11471192 2001
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE To provide better insight into the relationship among the expression behavior in vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia or severe oligozoospermia. 11466205 2001
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. 10875853 2000
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 Biomarker disease BEFREE Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. 11101688 2000
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 10923036 2000
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE A total of 90 patients were screened for a panel of 10 mutations in the CFTR gene frequently involved in congenital absence of the vas deferens (CAVD); the patients included 14 with azoospermia and CAVD, 39 patients with azoospermia without CAVD (n = 39) and 37 patients with severe oligozoospermia. 10341008 1999
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 Biomarker disease BEFREE The majority of men with congenital absence of the vas deferens have a defect in both copies of the CFTR gene and therefore represent a distinct phenotypic form of cystic fibrosis. 8796848 1996
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 Biomarker disease BEFREE CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies. 8627844 1996
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE The presence of detectable CFTR mutations does not affect fertilization rates or PRs for men with bilateral congenital absence of the vas deferens when IVF and micromanipulation are applied. 7542209 1995
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 GeneticVariation disease BEFREE An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases. 8825494 1995
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
0.200 Biomarker disease HPO