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 		0.450 GeneticVariation phenotype BEFREE NR5A1 mutations are not associated with male infertility in Indian men. 29265478 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 GeneticVariation phenotype BEFREE The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. 27169744 2016
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 GeneticVariation phenotype BEFREE Loss-of-function changes in NR5A1 in 46,XY individuals are associated with a spectrum of phenotypes in humans ranging from a lack of testis formation to male infertility. 27378692 2016
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 GeneticVariation phenotype BEFREE In conclusion, findings of the current and previous studies suggest that mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary. 24750329 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 GeneticVariation phenotype BEFREE To test the hypothesis that mutations in NR5A1 cause male infertility, we sequenced NR5A1 in 315 men with idiopathic spermatogenic failure. 20887963 2010
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 Biomarker phenotype CTD_human To test the hypothesis that mutations in NR5A1 cause male infertility, we sequenced NR5A1 in 315 men with idiopathic spermatogenic failure. 20887963 2010
CUI: C0021364
Disease: Male infertility
Male infertility 		0.450 Biomarker phenotype HPO