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 GeneticVariation phenotype BEFREE The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility. 25443471 2015
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 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 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 Biomarker phenotype BEFREE Therefore, manipulation of the signaling components of the ADGRG2-Gq/β-arrestin-1/CFTR complex by small molecules may be an effective therapeutic strategy for male infertility. 29393851 2018
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 This is the first report from the Indian population, emphasizing increased frequency of CFTR gene mutations in male infertility other than CBAVD. 25010724 2014
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 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