CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Male infertility ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. 7739684 1995
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Couples requesting microsurgical epididymal sperm aspiration/in-vitro fertilization and those in which the man has CF should be offered CFTR mutations screening if CBAVD is the cause of the male infertility. 9239681 1996
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype 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
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE The abnormal CFTR genotypes in these patients with pancreatitis resemble those associated with male infertility. 9725922 1998
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 AlteredExpression phenotype BEFREE Further studies are needed to substantiate the hypothesis that a combination of variants affecting expression and function of the CFTR protein is associated with male infertility. 10601093 1999
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE CFTR gene mutations and male infertility. 10755189 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype 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: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype 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: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Therefore, we proposed to determine, in a representative unselected sample of men who were sent for microsurgical epididymal sperm aspiration, if different types of male infertility and impaired fertility were associated with CFTR gene alterations. 11788091 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE CFTR mutations and polymorphisms in male infertility. 15379964 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. 15239534 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8- GREAT, LHR, POLG). 14965334 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Molecular pathology of the CFTR locus in male infertility. 15705292 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Molecular evaluation of CFTR sequence variants in male infertility of testicular origin. 16128988 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE This study was conducted to explore the role of CFTR gene mutations in the occurrence of CBAVD-dependent male infertility. 16272798 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Congenital bilateral absence of the vas deferens (CBAVD) is responsible for 2-6% of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. 16714368 2006
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype CTD_human Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues. 17823699 2007
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses. 18554162 2008
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype CTD_human Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses. 18554162 2008
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. 18616886 2008
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE An increased frequency of (cystic fibrosis transmembrane conductance regulator) CFTR mutations has been detected in some types of male infertility. 21679131 2011
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 21254931 2011
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 GeneticVariation phenotype BEFREE It is well established that cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations are involved in congenital bilateral absence of the vas deferens (CBAVD), causing obstructive azoospermia and male infertility. 21762191 2012
CUI: C0021364
Disease: Male infertility
Male infertility 		0.500 Biomarker phenotype BEFREE CFTR is a key regulator of male fertility, a defect of which may result in different forms of male infertility other than CBAVD. 22709980 2013