Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Therefore, screening for the IVS8-5T mutation in the CFTR gene may be recommended for men with NOA or severe oligozoospermia seeking assisted reproductive technology (ART). 31820482 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Five individuals with heterozygous pathogenic CFTR variants were identified using targeted NGS in a cohort of 1112 idiopathic infertile men with azoospermia or severe oligozoospermia. 31672438 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Controversial data have been published regarding the involvement of CFTR mutations in infertile men with non-obstructive azoospermia and oligozoospermia. 25386751 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Finally, neither the frequency of CFTR mutations nor the frequency of the TG12-T5 variants differed between patients with mild oligospermia (74 cases) and patients with ovulatory sterility (30 cases) compared with the general population. 21679131 2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
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
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE These results underline the importance of performing molecular analysis of mutations and IVS8-Tn polymorphism in the CFTR gene and appropriate genetic counselling to all couples undergoing assisted reproductive technologies when the partner has azoospermia or severe oligozoospermia. 18616886 2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Chromosome aberrations, Y chromosome microdeletions and CFTR (cystic fibrosis transmembrane conductance regulator) mutations alone may explain up to 25% of azoospermia and severe oligozoospermia. 14998938 2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
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
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE None of the CFTR mutations were observed in patients with azoospermia without CAVD or with severe oligozoospermia and the frequency of allele 5T was 3.6% (three out of 78 alleles) and 1.35% (one out of 74 alleles) respectively. 10341008 1999
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE However, we observed a 1.7-fold increase in the proportion of homozygotes for a specific CFTR haplotype (TG11-T7-G1540) in the OAT group (P = 0.025). 10601093 1999
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. 9591500 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 GeneticVariation disease BEFREE The present study was undertaken to test the involvement of CFTR gene mutations in 14 CBAVD males and additionally in cases of male infertility caused by obstructive azoospermia (n = 10) and severe oligozoospermia (n = 3). 9620832 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.200 Biomarker disease HPO