CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
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 CFTR gene mutations and male infertility. 10755189 2000
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 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
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 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 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 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 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 Biomarker phenotype BEFREE Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-related disorder (CFTR-RD) that explains about 1-2% of the male infertility cases. 25386751 2014
CUI: C0021364
Disease: Male infertility
Male infertility
0.500 GeneticVariation phenotype BEFREE Congenital bilateral absence of vas deferens (CBAVD), a frequent cause of obstructive azoospermia and male infertility in Chinese, is mainly due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 31357024 2019
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 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 Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series. 31672438 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.500 GeneticVariation phenotype BEFREE In this review, we describe basic genetic principles involved in understanding the genetic basis of male infertility and examine the utility and proper clinical use of the proven genetic assays of male factor infertility, specifically Y chromosome microdeletions, chromosomal translocations, karyotype, cystic fibrosis transmembrane conductance regulator mutation analysis and sperm genetic tests. 24711280 2014
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 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 Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. 28801929 2017
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 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 Molecular pathology of the CFTR locus in male infertility. 15705292 2005
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 The p.Asp688His mutation is localized in the CFTR-interacting STAS domain of SLC26A3 and enriched in Finland, showing a significant association with male infertility in comparison with 6,572 Finnish (P < 0.05) and over 120,000 global alleles (P < 0.0001) (ExAC database). 29079751 2017
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 GeneticVariation phenotype BEFREE The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis. 31820482 2020