Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. 11038323 2000
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in NR5A1 associated with ovarian insufficiency. 19246354 2009
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure. 22951804 2012
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 GeneticVariation disease UNIPROT Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 26523528 2016
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 26303087 2015
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 Biomarker disease GENOMICS_ENGLAND DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 26303087 2015
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 Biomarker disease CTD_human
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure. 22951804 2012
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 CausalMutation disease CLINVAR
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 GeneticVariation disease UNIPROT Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 20887963 2010
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. 17200175 2007
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 CausalMutation disease CLINVAR Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 22907560 2012
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 Biomarker disease GENOMICS_ENGLAND DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 26303087 2015
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 Biomarker disease CTD_human
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 CausalMutation disease CLINVAR Exome sequencing for the diagnosis of 46,XY disorders of sex development. 25383892 2015
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 17694559 2008
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 28459839 2017
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 GeneticVariation disease UNIPROT A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 27378692 2016
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure. 22951804 2012
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 CausalMutation disease CLINVAR The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 23154282 2012