Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		disease 0.700 None 1.000 17 20 1999 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		disease 0.700 None 1.000 5 9 2000 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		disease 0.700 None 1.000 3 6 2010 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		disease 0.510 None 1.000 2 0 2009 2012
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype 0.500 None 1.000 20 3 1999 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.500 None 1.000 1 0 2009 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.450 None 0.800 5 0 2010 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease 0.410 None 1.000 1 0 1998 1998
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		group 0.400 None 1.000 38 3 2007 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease 0.400 None 1.000 19 1 2009 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease 0.400 moderate 0.938 16 1 2000 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease 0.400 None 1.000 12 2 2004 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease 0.400 None 1.000 10 0 1999 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		disease 0.400 None 1.000 4 2 2016 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease 0.400 None 1.000 1 0 2017 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease 0.360 strong 1.000 6 0 1997 2010
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		disease 0.350 None 0.875 8 0 1999 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		disease 0.340 None 1.000 4 2 2017 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease 0.330 None 1.000 3 0 2010 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease 0.320 None 1.000 3 0 2002 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.320 None 1.000 2 0 2013 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.320 None 1.000 2 0 2013 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease 0.310 None 1.000 2 1 2017 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.310 None 1.000 2 0 2014 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		disease 0.300 None 1.000 3 0 1999 2004