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 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 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 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 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 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 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 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 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 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 This is the first report from the Indian population, emphasizing increased frequency of CFTR gene mutations in male infertility other than CBAVD. 25010724 2014