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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XX sex reversal 4	Pathogenic	rs1832447335, rs104894119	RCV001333321 RCV000490544	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY partial gonadal dysgenesis	Pathogenic	rs2131277756	RCV002254533	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADRENAL INSUFFICIENCY, NR5A1-RELATED	Pathogenic	rs104894118, rs104894119	RCV000013639 RCV000490549	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of sexual differentiation	Pathogenic; Likely pathogenic	rs2131289685, rs2131289726, rs2131289833, rs2131269262, rs1832493257	RCV001568312 RCV001568313 RCV001568314 RCV001568335 RCV001568315	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genetic non-acquired premature ovarian failure	Likely pathogenic; Pathogenic	rs1832458239, rs1483691434, rs2131286921, rs185071408, rs1057517779, rs1554721235	RCV001661771 RCV001661775 RCV001661780 RCV001663368 RCV001662366 RCV001662528 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility	Likely pathogenic; Pathogenic	rs964393137, rs2538676383, rs759071081	RCV003983769 RCV003983770 RCV003983866	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic; Pathogenic	rs2538665254, rs2538684217, rs1832456567	RCV003991618 RCV003991620 RCV003991587	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs1588618614, rs759071081	RCV001644835 RCV001644959	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NR5A1-related disorder	Pathogenic; Likely pathogenic	rs866712684, rs2538674045, rs2538684736, rs2131289973, rs2538676331, rs2538676471, rs2538683564, rs375469069	RCV004731251 RCV003404007 RCV003404228 RCV003402868 RCV003400186 RCV003412372 RCV004731594 RCV003411746 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian failure 7	Likely pathogenic; Pathogenic	rs2131286907, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208	RCV001730100 RCV000013649 RCV000013651 RCV000013653 RCV000013655 RCV000013656 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 8	Pathogenic	rs387906690, rs201095702	RCV000022776 RCV000022777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
46 XX GONADAL DYSGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX SEX REVERSAL 1	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY COMPLETE GONADAL DYSGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF SEX DEVELOPMENT, 46,XY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (227)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XX Disorders of Sex Development	46, XX Disorders of Sex Development	BEFREE	29393271, 30350900		★★★★★ ★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	ORPHANET_DG	27490115		★★★★★ ★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	30739115		★★★★★ ★☆☆☆☆ Found in Text Mining only
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	17200175, 17694559, 18987494, 19246354, 19318730, 19439508, 20595937, 20861607, 20887963, 21163476, 21654157, 22028768, 22474171, 22549935, 22909003 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
46, XY Disorders of Sex Development	46, XY disorder of sex development	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XX ovotesticular disorder of sex development	46, XX ovotesticular disorder of sex development	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX SEX REVERSAL 4	46, XX Gonadal Sex Reversal	UNIPROT_DG	27378692, 27490115, 27610946, 27855412		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XX SEX REVERSAL 4	46, XX Gonadal Sex Reversal	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XX testicular disorder of sex development	46, XX Gonadal Sex Reversal	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	25580123		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	BEFREE	27463801		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY Sex Reversal 3	46, XY Sex Reversal	UNIPROT_DG	10369247, 11932325, 17200175, 17694559, 24405868, 27378692, 27490115, 28459839		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY Sex Reversal 3	46, XY Sex Reversal	CLINVAR_DG	22028768, 22907560, 23154282, 25122490, 25383892, 27169744, 28032338		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY Sex Reversal 3	46, XY Sex Reversal	GENOMICS_ENGLAND_DG	22951804, 26303087		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
46,XY Sex Reversal 3	46, XY Sex Reversal	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acromegaly	Acromegaly	Pubtator	36497102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	11748841, 23299922, 29151085, 31610036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18824868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	8881451, 9666878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	20080844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	11038323, 11165004, 15070943, 15579739, 17656604, 19318730, 19439508, 20595937, 21654157, 22100173, 24591553, 26139438, 27135758, 28032338, 29265478, 31831369 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Diseases	Adrenal Gland Diseases	BEFREE	16564598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	20660055		★★★★★ ★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, NR5A1-RELATED	ADRENAL INSUFFICIENCY	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenocortical carcinoma	Adrenocortical carcinoma	LHGDN	18824868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	19318454, 23158211, 23907384, 26772981, 28658440, 28911143, 36308186, 38155952, 40190189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	20660055, 22427816, 28270555, 28658440, 9232190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	31141483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20660055, 24890943, 28270555, 28672049, 30476173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agonadism	Agonadism	BEFREE	17200175, 20595937, 24056159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	17488792, 21654157, 24405868, 28459839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	20302644, 29935645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23829269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	22909003, 27821113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	22909003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23095176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23095176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	20660055, 24890943, 28270555, 28672049, 30476173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31825792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16834661, 24067197, 24750329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	33728612, 39623453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29497090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	35432193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	40190189	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	9786908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20080844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26772981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26197988, 31569342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26576867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23291911, 25604140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12724325, 26197988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	BEFREE	28032338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30372699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	11748841, 12213901, 15181092, 20573681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	20875752, 21169726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	11422106, 20875752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	16500365, 18987494, 19439508, 23165333, 23729601, 25989977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	LHGDN	16500365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	16500365, 19439508, 25989977, 27899089, 37432935, 39623453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	28059101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	9590178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23095176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24056159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30343141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30343141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16564598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	18771471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	11038323, 17694559, 19318730, 19439508, 20887963, 21163476, 21412441, 21654157, 22474171, 22909003, 23299922, 23918653, 24056159, 24405868, 25122490 View all (17 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	19318730, 19439508, 21412441, 21654157, 22100173, 22474171, 22549935, 22909003, 23918653, 24056159, 25122490, 27490115, 27855412, 28459839, 29027299 View all (17 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25425520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37072715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	19022561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	12161505, 26239024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	17519303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17519303, 18165439, 19001523, 19875956, 21926385, 26036904, 26530052, 30018006, 30576245, 9973254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	CTD_human_DG	17519303		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	LHGDN	18165439		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	18165439, 19001523, 19930843, 21926385, 30576245, 36650372	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	21324456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	24056159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	22080441, 23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24056159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	31141483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Agenesis	Gonadal Agenesis	BEFREE	17200175, 20595937, 24056159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	LHGDN	15579738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	17656604, 19318730, 20453312, 21163476, 24231572, 24591553, 25160005, 28459839, 29265478, 31338750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	17694559, 19318730, 21163476, 21654157, 22474171, 24056159, 25502990, 27821113, 27855412, 28459839, 33101191, 36114074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	CTD_human_DG	19246354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	BEFREE	22907560		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	CTD_human_DG	10369247, 11932325, 15070943		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	22028768, 25989977, 27169744, 27610946, 29190620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	CTD_human_DG	19246354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	17431898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23225230, 25271967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	21169726, 29567944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28673934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypergonadotropic Ovarian Failure, X-Linked	Premature ovarian failure	CTD_human_DG	19246354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29567944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31786977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	BEFREE	21654157, 22474171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31366244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	20573681, 22080441, 31391075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	19439508, 22028768, 23154282, 23299922, 23729601, 23918653, 24591553, 25502990, 26303087, 27463801, 28032338, 29332064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	19439508, 21654157, 22909003, 23299922, 23918653, 25502990, 37409232, 37432935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias, penoscrotal	Hypospadias	BEFREE	19439508, 21654157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias, penoscrotal	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias, perineal	Hypospadias	BEFREE	23729601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	23096908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	23096908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28459839, 36114074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	20887963, 25989977, 27378692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36267810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	31610036		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	7789992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	22301800, 23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoid congenital adrenal hyperplasia	Congenital lipoid adrenal hyperplasia	Pubtator	22549935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male Pseudohermaphroditism	Male Pseudohermaphroditism	BEFREE	9590178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	40190189	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	22470109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31569342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23291911, 25604140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	23291911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17761949, 25239642, 28225020, 28717943, 29027299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23095176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29262334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16564598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	16127213, 17940071, 18987494, 21535007, 23299922, 29332064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25425520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36267810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	30576245	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	26200099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	17431898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11081157, 11422106, 15546904, 20080844, 20660055, 23291911, 23907384, 28193212, 28225020, 28658440, 28717943, 29109782, 29497090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12213901, 19001523, 20688619, 9590178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	BEFREE	16564598, 30143607, 31028248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	23165333, 23299922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligosynaptic Infertility	Oligosynaptic Infertility	CLINVAR_DG	22028768, 22907560, 23154282, 25122490, 25383892, 27169744, 28032338		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	19246354, 20595937, 20887963, 21505076, 22100173, 22549935, 23153500, 23299922, 23543655, 23918653, 24073220, 24405868, 25425520, 26303087, 27378692 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CTD_human_DG	19246354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23291911, 25604140		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	23291911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22549935, 23291911, 26576867, 28624161	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile hypospadias	Penile Hypospadias	BEFREE	19439508, 22028768, 23154282, 23299922, 23729601, 23918653, 24591553, 25502990, 26303087, 27463801, 28032338, 29332064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	16127213, 17940071, 18987494, 21535007, 23299922, 29332064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28284009, 33168897, 33261069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	BEFREE	28032338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	19246354, 20595937, 20887963, 22100173, 23153500, 23299922, 23543655, 23918653, 24067197, 24073220, 24405868, 26303087, 27378692, 27490115, 29265478, 31787151 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 1	Premature Ovarian Failure	CTD_human_DG	19246354		★★★★★ ★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 7 (disorder)	Premature Ovarian Failure	UNIPROT_DG	11038323, 19246354, 26523528		★★★★★ ★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 7 (disorder)	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	22951804, 26303087		★★★★★ ★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 7 (disorder)	Premature Ovarian Failure	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 7 (disorder)	Premature Ovarian Failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	30372699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	20302644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24113592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	CTD_human_DG	19246354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Reifenstein Syndrome	Reifenstein Syndrome	BEFREE	17488792, 21788424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	22470109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	BEFREE	27378692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	23165333, 25604140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	17694559, 18987494, 19318730, 19439508, 21129722, 21242195, 21412441, 21654157, 22028768, 22218443, 22474171, 22549935, 22909003, 23918653, 23969951 View all (20 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatocytic seminoma	Spermatocytic Seminoma	BEFREE	23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 8	Spermatogenic Failure	UNIPROT_DG	20887963		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 8	Spermatogenic Failure	GENOMICS_ENGLAND_DG	22951804, 26303087		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 8	Spermatogenic Failure	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 8	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Streak ovary	Streak ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	CTD_human_DG	10369247, 11932325, 15070943		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Teratoma	BEFREE	23165333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	27855412, 29393271, 30350900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	33728612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	BEFREE	18987494, 19269353, 20595937, 21654157, 27378692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21654157, 22301800, 35546286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28717943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33203722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	ORPHANET_DG	27490115		★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	21094206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	17656604, 19318730, 20453312, 21163476, 24231572, 24591553, 25160005, 28459839, 29265478, 31338750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	11748841, 12213901, 15181092, 20573681, 9032275, 9566914		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
XX males	XX Males	ORPHANET_DG	27490115		★★★★★ ★☆☆☆☆ Found in Text Mining only

NR5A1 (nuclear receptor subfamily 5 group A member 1)