Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2516
Gene name	Nuclear receptor subfamily 5 group A member 1
Gene symbol	NR5A1
Synonyms (NCBI Gene)	AD4BPELPFTZ1FTZF1POF7SF-1SF1SPGF8SRXX4SRXY3hSF-1
Chromosome	9
Chromosome location	9q33.3
Summary	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insuff

Show/Hide all (32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894118	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs104894119	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894120	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894123	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs104894124	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894125	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894126	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918654	GC>TT	Pathogenic	Coding sequence variant, missense variant
rs121918655	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918656	C>T	Pathogenic	Initiator codon variant, missense variant
rs200163795	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs200749741	G>A	Pathogenic	Missense variant, coding sequence variant
rs201095702	C>T	Pathogenic	Missense variant, coding sequence variant
rs375469069	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs387906690	G>A	Pathogenic	Missense variant, coding sequence variant
rs606231205	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231206	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231207	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231208	CAGCTGCAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs775441984	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs863224904	A>C	Pathogenic	Coding sequence variant, missense variant
rs886039769	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057517779	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794281	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554721033	->GCAAGCAGCTGCAGCACCAGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1554721235	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1554721883	CACAG>ACAGGTCCAGGTC	Pathogenic	Coding sequence variant, frameshift variant
rs1564146922	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1588613754	->AGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1588618614	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1588621944	GTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588622082	G>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments
MIRT1192973	hsa-miR-1197	CLIP-seq
MIRT1192974	hsa-miR-1207-5p	CLIP-seq
MIRT1192975	hsa-miR-1827	CLIP-seq
MIRT1192976	hsa-miR-1909	CLIP-seq
MIRT1192977	hsa-miR-1910	CLIP-seq
MIRT1192978	hsa-miR-192	CLIP-seq
MIRT1192979	hsa-miR-214	CLIP-seq
MIRT1192980	hsa-miR-215	CLIP-seq
MIRT1192981	hsa-miR-3127-3p	CLIP-seq
MIRT1192982	hsa-miR-3200-3p	CLIP-seq
MIRT1192983	hsa-miR-342-5p	CLIP-seq
MIRT1192984	hsa-miR-3612	CLIP-seq
MIRT1192985	hsa-miR-361-3p	CLIP-seq
MIRT1192986	hsa-miR-3619-5p	CLIP-seq
MIRT1192987	hsa-miR-3678-3p	CLIP-seq
MIRT1192988	hsa-miR-4258	CLIP-seq
MIRT1192989	hsa-miR-4269	CLIP-seq
MIRT1192990	hsa-miR-4323	CLIP-seq
MIRT1192991	hsa-miR-433	CLIP-seq
MIRT1192992	hsa-miR-4449	CLIP-seq
MIRT1192993	hsa-miR-4459	CLIP-seq
MIRT1192994	hsa-miR-455-3p	CLIP-seq
MIRT1192995	hsa-miR-4664-5p	CLIP-seq
MIRT1192996	hsa-miR-4690-5p	CLIP-seq
MIRT1192997	hsa-miR-4695-5p	CLIP-seq
MIRT1192998	hsa-miR-4722-5p	CLIP-seq
MIRT1192999	hsa-miR-4762-5p	CLIP-seq
MIRT1193000	hsa-miR-4763-3p	CLIP-seq
MIRT1193001	hsa-miR-577	CLIP-seq
MIRT1193002	hsa-miR-634	CLIP-seq
MIRT1193003	hsa-miR-650	CLIP-seq
MIRT1193004	hsa-miR-761	CLIP-seq
MIRT1193005	hsa-miR-940	CLIP-seq
MIRT1192985	hsa-miR-361-3p	CLIP-seq
MIRT1192988	hsa-miR-4258	CLIP-seq
MIRT2056027	hsa-miR-4260	CLIP-seq
MIRT1192992	hsa-miR-4449	CLIP-seq
MIRT2056028	hsa-miR-4707-5p	CLIP-seq
MIRT2056029	hsa-miR-4727-3p	CLIP-seq
MIRT739522	hsa-miR-4768-3p	CLIP-seq
MIRT2284682	hsa-miR-4474-3p	CLIP-seq
MIRT739522	hsa-miR-4768-3p	CLIP-seq
MIRT2284683	hsa-miR-604	CLIP-seq
MIRT2284684	hsa-miR-644	CLIP-seq
MIRT2284685	hsa-miR-647	CLIP-seq
MIRT2284686	hsa-miR-658	CLIP-seq
MIRT739523	hsa-miR-665	CLIP-seq
MIRT2391728	hsa-miR-377	CLIP-seq
MIRT2284682	hsa-miR-4474-3p	CLIP-seq
MIRT2284683	hsa-miR-604	CLIP-seq
MIRT2284684	hsa-miR-644	CLIP-seq
MIRT2284685	hsa-miR-647	CLIP-seq
MIRT2284686	hsa-miR-658	CLIP-seq

Show/Hide all (6)

Transcription factor	Regulation	Reference
NR0B1	Repression	11990799
SOX9	Activation	11875113
SOX9	Unknown	24591553
SP1	Unknown	9013759
USF2	Unknown	18165439
WT1	Unknown	12130543

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23610160
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21412441
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856
GO:0001553	Process	Luteinization	IEA
GO:0003677	Function	DNA binding	IDA	10567391
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IDA	8205615, 23610160
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	10567391, 16709599, 17474147, 17664281, 21220346, 22927646, 23610160, 25416956, 25910212, 32296183, 39009827
GO:0005543	Function	Phospholipid binding	IDA	17664281
GO:0005634	Component	Nucleus	IDA	10567391, 10848616, 17664281
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007530	Process	Sex determination	IMP	24405868, 27378692, 27490115, 27610946, 27855412
GO:0007538	Process	Primary sex determination	TAS	9590178
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IMP	10369247, 27378692
GO:0008584	Process	Male gonad development	TAS	9590178
GO:0008585	Process	Female gonad development	IEA
GO:0008585	Process	Female gonad development	IMP	27378692
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0009888	Process	Tissue development	IBA
GO:0009888	Process	Tissue development	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	27378692
GO:0010628	Process	Positive regulation of gene expression	IMP	23610160
GO:0019899	Function	Enzyme binding	IPI	17664281
GO:0030238	Process	Male sex determination	IMP	10369247
GO:0030325	Process	Adrenal gland development	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	27378692
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23610160
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17664281
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	TAS	10567391
GO:0051457	Process	Maintenance of protein location in nucleus	IEA
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0097210	Process	Response to gonadotropin-releasing hormone	IEA
GO:0097720	Process	Calcineurin-mediated signaling	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000020	Process	Positive regulation of male gonad development	IDA	21412441
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2000195	Process	Negative regulation of female gonad development	IEA

MIM	HGNC	e!Ensembl
184757	7983	ENSG00000136931

Q13285

Protein name

Steroidogenic factor 1 (SF-1) (STF-1) (hSF-1) (Adrenal 4-binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)

Protein function

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21

PDB

1YOW , 1ZDT , 4QJR , 4QK4 , 7KHT , 8DAF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	11 → 80	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	250 → 442	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385). {ECO:0000269|PubMed:9177385}.

Sequence

MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT
QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL
ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL
AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA
LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT

Sequence length

461

Interactions

View interactions

	KEGG		Reactome
	Cortisol synthesis and secretion Cushing syndrome		Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Transcriptional regulation of pluripotent stem cells

357

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XX sex reversal 4	Pathogenic	rs1832447335, rs104894119	RCV001333321 RCV000490544
46,XY disorder of sex development	Pathogenic; Likely pathogenic	rs2131286914, rs2131289687, rs2131289982, rs1564150329, rs2131289973, rs2131289701, rs2131279850, rs866712684, rs2538665084, rs2538683985, rs2538673493, rs2538674045, rs2538676475, rs2538683958, rs2538687051 View all (13 more)	RCV001389645 RCV001380659 RCV001389147 RCV001919035 RCV001960405 RCV001866528 RCV001939594 RCV003774736 RCV002810611 RCV002871131 RCV003017878 RCV003008127 RCV003032861 RCV003782936 RCV003790460 RCV003792503 RCV003808225 RCV003804512 RCV003801798 RCV002230747 RCV002527576 RCV002233712 RCV002234233 RCV002551723 RCV001056064 RCV001204202 RCV001231093 RCV001232154
46,XY partial gonadal dysgenesis	Pathogenic	rs2131277756	RCV002254533
46,XY sex reversal 3	Pathogenic; Likely pathogenic	rs2131289685, rs1832458239, rs2131289790, rs2131290040, rs1832496590, rs754336683, rs2131289973, rs145936761, rs866712684, rs2131290009, rs2131277629, rs2131277648, rs2131279852, rs2538687191, rs863224904 View all (24 more)	RCV004594362 RCV001726609 RCV001823017 RCV002275228 RCV002275229 RCV002279771 RCV005638167 RCV002251206 RCV002251254 RCV002254390 RCV002272774 RCV002273019 RCV002273145 RCV002472073 RCV000199384 RCV000197157 RCV003128165 RCV003239300 RCV003314441 RCV000013638 RCV000013640 RCV000013641 RCV000013642 RCV000013643 RCV000013644 RCV000013645 RCV000013646 RCV000013647 RCV000013648 RCV000013650 RCV000013652 RCV000013654 RCV004555172 RCV000504282 RCV000502487 RCV000502696 RCV001805860 RCV000824833 RCV000984938
ADRENAL INSUFFICIENCY, NR5A1-RELATED	Pathogenic	rs104894118, rs104894119	RCV000013639 RCV000490549
Disorder of sexual differentiation	Pathogenic; Likely pathogenic	rs2131289685, rs2131289726, rs2131289833, rs2131269262, rs1832493257	RCV001568312 RCV001568313 RCV001568314 RCV001568335 RCV001568315
Genetic non-acquired premature ovarian failure	Likely pathogenic; Pathogenic	rs1832458239, rs1483691434, rs2131286921, rs185071408, rs1057517779, rs1554721235	RCV001661771 RCV001661775 RCV001661780 RCV001663368 RCV001662366 RCV001662528
Male infertility	Likely pathogenic; Pathogenic	rs964393137, rs2538676383, rs759071081	RCV003983769 RCV003983770 RCV003983866
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic; Pathogenic	rs2538665254, rs2538684217, rs1832456567	RCV003991618 RCV003991620 RCV003991587
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs1588618614, rs759071081	RCV001644835 RCV001644959
NR5A1-related disorder	Pathogenic; Likely pathogenic	rs866712684, rs2538674045, rs2538684736, rs2131289973, rs2538676331, rs2538676471, rs2538683564, rs375469069	RCV004731251 RCV003404007 RCV003404228 RCV003402868 RCV003400186 RCV003412372 RCV004731594 RCV003411746
Oligosynaptic infertility	Pathogenic; Likely pathogenic	rs2131286914, rs2131289687, rs2131289982, rs1564150329, rs2131289973, rs2131289701, rs2131279850, rs866712684, rs2538665084, rs2538683985, rs2538673493, rs2538674045, rs2538676475, rs2538683958, rs2538687051 View all (13 more)	RCV001389645 RCV001380659 RCV001389147 RCV001919035 RCV001960405 RCV001866528 RCV001939594 RCV003774736 RCV002810611 RCV002871131 RCV003017878 RCV003008127 RCV003032861 RCV003782936 RCV003790460 RCV003792503 RCV003808225 RCV003804512 RCV003801798 RCV002230747 RCV002527576 RCV002233712 RCV002234233 RCV002551723 RCV001056064 RCV001204202 RCV001231093 RCV001232154
Premature ovarian failure 7	Likely pathogenic; Pathogenic	rs2131286907, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208	RCV001730100 RCV000013649 RCV000013651 RCV000013653 RCV000013655 RCV000013656
See cases	Likely pathogenic	rs2538687549, rs1184635512	RCV003991622 RCV003991623
Spermatogenic failure 8	Pathogenic	rs387906690, rs201095702	RCV000022776 RCV000022777

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs115601896	RCV005916596
Gastric cancer	Benign	rs115601896	RCV005916597

Show/Hide Text Mining Associations (77)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Disorders of Sex Development	Associate	23918653, 27490115, 27855412, 30350900, 35222615
46 XX Testicular Disorders of Sex Development	Associate	23918653, 26492835, 27378692, 27490115
46 XY female	Associate	21654157, 25502990, 27553487, 34112222
Acne Vulgaris	Associate	12787114
Acromegaly	Associate	36497102
Addison Disease	Associate	11038323, 23299922, 25989977
Adrenal Cortex Neoplasms	Associate	23158211
Adrenal Gland Diseases	Associate	24056159, 37432935
Adrenal Gland Neoplasms	Associate	18984668, 39623453
Adrenal Insufficiency	Associate	11038323, 19318730, 21654157, 22100173, 23096908, 25122490
Adrenocortical Carcinoma	Associate	19318454, 23158211, 23907384, 26772981, 28658440, 28911143, 36308186, 38155952, 40190189
Allanson Pantzar McLeod syndrome	Associate	21163476, 27378692, 35222615, 37409232
Alopecia	Associate	12787114
Amenorrhea	Associate	20302644, 29935645
Androgen Insensitivity Syndrome	Associate	22909003, 27821113
Anorchia	Associate	17940071, 22909003, 23299922, 27553487, 28459839
Azoospermia	Associate	33728612, 39623453
Bohring syndrome	Associate	35432193
Brain Stem Neoplasms	Stimulate	40190189
Calloso genital dysplasia	Associate	27378692
Carcinogenesis	Associate	9786908
Carcinoma Hepatocellular	Associate	26772981
Carcinoma Ovarian Epithelial	Associate	26576867
Choristoma	Associate	19930843
Cryptorchidism	Associate	16500365, 19439508, 25989977, 27899089, 37432935, 39623453
Developmental Disabilities	Associate	24056159
Disease	Associate	37288707
Disorder of Sex Development 46 XY	Associate	11038323, 17694559, 19318730, 19439508, 20887963, 21163476, 21412441, 21654157, 22474171, 22909003, 23299922, 23918653, 24056159, 24405868, 25122490 View all (17 more)
Disorders of Sex Development	Associate	19318730, 19439508, 21412441, 21654157, 22100173, 22474171, 22549935, 22909003, 23918653, 24056159, 25122490, 27490115, 27855412, 28459839, 29027299 View all (17 more)
Endocrine System Diseases	Associate	37072715
Endometriosis	Associate	18165439, 19001523, 19930843, 21926385, 30576245, 36650372
Epilepsy Partial with Variable Foci	Associate	21324456
Facial Dysmorphism with Multiple Malformations	Associate	24056159
Fever	Associate	24113592
Gonadal Disorders	Associate	24056159
Gonadal Dysgenesis	Associate	17694559, 19318730, 21163476, 21654157, 22474171, 24056159, 25502990, 27821113, 27855412, 28459839, 33101191, 36114074
Gonadal Dysgenesis 46 XY	Associate	24056159, 25383892, 25989977, 40290305
Hirsutism	Associate	11297612, 12787114
Hypoadrenocorticism Familial	Associate	16684822
Hypospadias	Associate	19439508, 21654157, 22909003, 23299922, 23918653, 25502990, 37409232, 37432935
Hypothyroidism Congenital Nongoitrous 2	Stimulate	19930843
Idiopathic Hypogonadotropic Hypogonadism	Associate	23096908
Infertility	Associate	28459839, 36114074
Infertility Male	Associate	20887963, 25989977, 27378692
Intervertebral Disc Degeneration	Associate	36267810
Leukoencephalopathies	Associate	17940071
Leydig Cell Tumor	Associate	36881770
Lipoid congenital adrenal hyperplasia	Associate	22549935
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	20887963, 23299922, 38614076
Malformations of Cortical Development	Stimulate	40190189
Mitochondrial Diseases	Associate	36267810
Mouth Diseases	Stimulate	30576245
Myopathies Structural Congenital	Associate	29935645
Neoplasms	Associate	35260162, 35304356, 36308186, 36497102, 36881092, 37406360, 38155952
Neuroendocrine Tumors	Associate	37074863
Oligospermia	Associate	32655042, 37409232
Ovarian Neoplasms	Associate	22549935, 23291911, 26576867, 28624161
Ovotesticular Disorders of Sex Development	Associate	27855412, 30350900
Pathological Conditions Anatomical	Associate	39623453
Penis agenesis	Associate	16127213, 17940071, 23299922, 39623453
Persistent Mullerian duct syndrome	Associate	31238341
Pituitary Neoplasms	Associate	28284009, 33168897, 33261069
Primary Ovarian Insufficiency	Associate	20887963, 22100173, 22549935, 23299922, 23918653, 27378692, 27490115, 35456418
Prostatic Neoplasms	Associate	24113592
Prostatic Neoplasms Castration Resistant	Associate	24265454
Renal Insufficiency	Associate	11038323, 16684822, 19318730, 24405868, 29891883
Sertoli Cell Only Syndrome	Associate	37296437
Sertoli Cell Tumor	Associate	21163476
Severe Acute Respiratory Syndrome	Associate	16127213, 23299922
Sex Chromosome Disorders of Sex Development	Associate	24056159, 30350900
Spermatogenic Failure Nonobstructive Y Linked	Associate	25989977
Splenic Infarction	Associate	39623453
Spondyloepiphyseal Dysplasia Tarda Autosomal Recessive	Associate	20498720
Testicular Diseases	Associate	33728612
Testicular Neoplasms	Associate	21654157, 22301800, 35546286
Triple Negative Breast Neoplasms	Associate	33203722
Virilism	Associate	16684822

NR5A1 (nuclear receptor subfamily 5 group A member 1)