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 Biomarker disease CTD_human
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 CTD_human
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 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.510 GeneticVariation disease BEFREE 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: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.510 Biomarker disease CTD_human Mutations in NR5A1 associated with ovarian insufficiency. 19246354 2009
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.510 GermlineCausalMutation disease ORPHANET
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. 31831369 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. 29265478 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 Biomarker phenotype BEFREE A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure. 29151085 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. 27135758 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. 26139438 2015
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE This is the first study searching for NR5A1 mutations in oriental patients from the Middle East and Arab region with XY DSD and no adrenal insufficiency, revealing a frequency similar to that in European patients (6.5-15%). 24591553 2014
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. 22100173 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 Biomarker phenotype BEFREE Consequently, initial work on the potential effects of SF-1 disruption in humans focused on individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis, and Müllerian structures. 23044873 2012
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias. 21654157 2011
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE More recently, heterozygous NR5A1 mutations have been identified in a substantial proportion of patients with 46,XY disorders of sex development (46,XY DSD) without adrenal insufficiency. 20595937 2010
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. 20453312 2010
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 Biomarker phenotype BEFREE The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. 19439508 2009
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.500 GeneticVariation phenotype BEFREE In conclusion, we add a novel mutation of NR5A1 in 46, XY DSD patient without adrenal failure. 19318730 2009
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		0.500 Biomarker disease CTD_human Mutations in NR5A1 associated with ovarian insufficiency. 19246354 2009