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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2494
Gene name	Nuclear receptor subfamily 5 group A member 2
Gene symbol	NR5A2
Synonyms (NCBI Gene)	B1FB1F2CPFFTFFTZ-F1FTZ-F1betaLRH-1LRH1hB1F-2
Chromosome	1
Chromosome location	1q32.1
Summary	The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cho

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023720	hsa-miR-1-3p	Microarray	18668037
MIRT054410	hsa-miR-139-5p	Luciferase reporter assayqRT-PCRWestern blot	24204738
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731758	hsa-miR-27b-3p	Luciferase reporter assayqRT-PCRWestern blot	27809310
MIRT731758	hsa-miR-27b-3p	Luciferase reporter assayqRT-PCRWestern blot	27809310
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193009	hsa-miR-1303	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT1193011	hsa-miR-3123	CLIP-seq
MIRT1193012	hsa-miR-3614-5p	CLIP-seq
MIRT1193013	hsa-miR-3925-5p	CLIP-seq
MIRT1193014	hsa-miR-3978	CLIP-seq
MIRT1193015	hsa-miR-4291	CLIP-seq
MIRT1193016	hsa-miR-4432	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193018	hsa-miR-4709-5p	CLIP-seq
MIRT1193019	hsa-miR-4714-3p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193021	hsa-miR-499-5p	CLIP-seq
MIRT1193022	hsa-miR-505	CLIP-seq
MIRT1193023	hsa-miR-545	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT1193025	hsa-miR-103a	CLIP-seq
MIRT1193026	hsa-miR-107	CLIP-seq
MIRT1193027	hsa-miR-1185	CLIP-seq
MIRT1193028	hsa-miR-1224-5p	CLIP-seq
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193029	hsa-miR-1265	CLIP-seq
MIRT1193030	hsa-miR-1272	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193031	hsa-miR-1275	CLIP-seq
MIRT1193032	hsa-miR-1301	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT1193033	hsa-miR-200b	CLIP-seq
MIRT1193034	hsa-miR-200c	CLIP-seq
MIRT1193035	hsa-miR-2114	CLIP-seq
MIRT1193036	hsa-miR-2116	CLIP-seq
MIRT1193037	hsa-miR-2355-3p	CLIP-seq
MIRT1193038	hsa-miR-3121-5p	CLIP-seq
MIRT1193039	hsa-miR-33a	CLIP-seq
MIRT1193040	hsa-miR-33b	CLIP-seq
MIRT1193041	hsa-miR-3605-5p	CLIP-seq
MIRT1193042	hsa-miR-3675-5p	CLIP-seq
MIRT1193043	hsa-miR-3679-5p	CLIP-seq
MIRT1193044	hsa-miR-374c	CLIP-seq
MIRT1193045	hsa-miR-3915	CLIP-seq
MIRT1193046	hsa-miR-3929	CLIP-seq
MIRT1193047	hsa-miR-429	CLIP-seq
MIRT1193048	hsa-miR-4419b	CLIP-seq
MIRT1193049	hsa-miR-4433	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193050	hsa-miR-4478	CLIP-seq
MIRT1193051	hsa-miR-450b-5p	CLIP-seq
MIRT1193052	hsa-miR-451b	CLIP-seq
MIRT1193053	hsa-miR-4525	CLIP-seq
MIRT1193054	hsa-miR-4649-3p	CLIP-seq
MIRT1193055	hsa-miR-4659a-3p	CLIP-seq
MIRT1193056	hsa-miR-4659b-3p	CLIP-seq
MIRT1193057	hsa-miR-4665-5p	CLIP-seq
MIRT1193058	hsa-miR-4677-5p	CLIP-seq
MIRT1193059	hsa-miR-4689	CLIP-seq
MIRT1193060	hsa-miR-4699-5p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193061	hsa-miR-4723-5p	CLIP-seq
MIRT1193062	hsa-miR-485-5p	CLIP-seq
MIRT1193063	hsa-miR-5047	CLIP-seq
MIRT1193064	hsa-miR-507	CLIP-seq
MIRT1193065	hsa-miR-526b	CLIP-seq
MIRT1193066	hsa-miR-548a-5p	CLIP-seq
MIRT1193067	hsa-miR-548ab	CLIP-seq
MIRT1193068	hsa-miR-548ak	CLIP-seq
MIRT1193069	hsa-miR-548b-5p	CLIP-seq
MIRT1193070	hsa-miR-548c-5p	CLIP-seq
MIRT1193071	hsa-miR-548d-5p	CLIP-seq
MIRT1193072	hsa-miR-548h	CLIP-seq
MIRT1193073	hsa-miR-548i	CLIP-seq
MIRT1193074	hsa-miR-548j	CLIP-seq
MIRT1193075	hsa-miR-548k	CLIP-seq
MIRT1193076	hsa-miR-548l	CLIP-seq
MIRT1193077	hsa-miR-548w	CLIP-seq
MIRT1193078	hsa-miR-548y	CLIP-seq
MIRT1193079	hsa-miR-554	CLIP-seq
MIRT1193080	hsa-miR-557	CLIP-seq
MIRT1193081	hsa-miR-559	CLIP-seq
MIRT1193082	hsa-miR-625	CLIP-seq
MIRT1193083	hsa-miR-655	CLIP-seq
MIRT1193084	hsa-miR-665	CLIP-seq
MIRT1193085	hsa-miR-676	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT2056030	hsa-miR-300	CLIP-seq
MIRT2056031	hsa-miR-381	CLIP-seq
MIRT2056032	hsa-miR-4802-5p	CLIP-seq
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193031	hsa-miR-1275	CLIP-seq
MIRT2284687	hsa-miR-1285	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT2284688	hsa-miR-3187-5p	CLIP-seq
MIRT2284689	hsa-miR-3194-5p	CLIP-seq
MIRT2284690	hsa-miR-3607-5p	CLIP-seq
MIRT2284691	hsa-miR-3922-5p	CLIP-seq
MIRT1193046	hsa-miR-3929	CLIP-seq
MIRT1193048	hsa-miR-4419b	CLIP-seq
MIRT1193049	hsa-miR-4433	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193050	hsa-miR-4478	CLIP-seq
MIRT2284692	hsa-miR-4495	CLIP-seq
MIRT1193053	hsa-miR-4525	CLIP-seq
MIRT2284693	hsa-miR-4643	CLIP-seq
MIRT1193054	hsa-miR-4649-3p	CLIP-seq
MIRT1193057	hsa-miR-4665-5p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193061	hsa-miR-4723-5p	CLIP-seq
MIRT2284694	hsa-miR-4753-5p	CLIP-seq
MIRT1193062	hsa-miR-485-5p	CLIP-seq
MIRT2284695	hsa-miR-548c-3p	CLIP-seq
MIRT2284696	hsa-miR-612	CLIP-seq
MIRT1193082	hsa-miR-625	CLIP-seq
MIRT2284697	hsa-miR-661	CLIP-seq
MIRT1193084	hsa-miR-665	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT2582527	hsa-miR-3158-5p	CLIP-seq
MIRT2582528	hsa-miR-3689a-5p	CLIP-seq
MIRT2582529	hsa-miR-3689b	CLIP-seq
MIRT2582530	hsa-miR-3689e	CLIP-seq
MIRT2582531	hsa-miR-3689f	CLIP-seq
MIRT2582532	hsa-miR-3714	CLIP-seq
MIRT2582533	hsa-miR-4677-3p	CLIP-seq
MIRT2582534	hsa-miR-4679	CLIP-seq
MIRT2582527	hsa-miR-3158-5p	CLIP-seq
MIRT2582528	hsa-miR-3689a-5p	CLIP-seq
MIRT2582529	hsa-miR-3689b	CLIP-seq
MIRT2582530	hsa-miR-3689e	CLIP-seq
MIRT2582531	hsa-miR-3689f	CLIP-seq
MIRT2582532	hsa-miR-3714	CLIP-seq
MIRT2582533	hsa-miR-4677-3p	CLIP-seq
MIRT2582534	hsa-miR-4679	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
CREB1	Activation	18191017
ESR1	Unknown	16091743
FOXA2	Activation	11595170
NR5A2	Activation	18191017
PROX1	Repression	19264593

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	15205472
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	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	9786908
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001545	Process	Primary ovarian follicle growth	IEA
GO:0001545	Process	Primary ovarian follicle growth	ISS
GO:0001826	Process	Inner cell mass cell differentiation	IEA
GO:0001826	Process	Inner cell mass cell differentiation	ISS
GO:0002669	Process	Positive regulation of T cell anergy	IEA
GO:0002669	Process	Positive regulation of T cell anergy	ISS
GO:0003677	Function	DNA binding	IDA	16289203
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	IDA	15205472, 15723037, 16289203
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IDA	15205472, 18410128, 21614002, 22187462, 22504882, 23737522, 26416531, 26553876, 27984042, 32433991, 38409506
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	16271724
GO:0005515	Function	Protein binding	IPI	12040021, 15143342, 15205472, 17664281, 19264593, 22187462, 22504882, 32296183
GO:0005543	Function	Phospholipid binding	IDA	15723037
GO:0005634	Component	Nucleus	IDA	28642062
GO:0005634	Component	Nucleus	IDA	15143342, 15205472
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	15205472
GO:0006338	Process	Chromatin remodeling	IDA	38409506
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	15723037
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	16289203
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008206	Process	Bile acid metabolic process	IDA	21614002
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009792	Process	Embryo development ending in birth or egg hatching	TAS	16289203
GO:0009888	Process	Tissue development	IBA
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0031017	Process	Exocrine pancreas development	IEA
GO:0031017	Process	Exocrine pancreas development	ISS
GO:0031948	Process	Positive regulation of glucocorticoid biosynthetic process	IEA
GO:0031948	Process	Positive regulation of glucocorticoid biosynthetic process	ISS
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	ISS
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0040016	Process	Embryonic cleavage	IEA
GO:0040016	Process	Embryonic cleavage	ISS
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042592	Process	Homeostatic process	NAS	16289203
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	16289203
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045070	Process	Positive regulation of viral genome replication	IDA	19264593
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15143342
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15205472, 27984042
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0060009	Process	Sertoli cell development	ISS
GO:0061113	Process	Pancreas morphogenesis	IEA
GO:0090425	Process	Acinar 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:0097720	Process	Calcineurin-mediated signaling	IEA
GO:0140001	Process	Morula formation	IEA
GO:0140001	Process	Morula formation	ISS
GO:0141064	Process	Zygotic genome activation	IEA
GO:0141064	Process	Zygotic genome activation	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000738	Process	Positive regulation of stem cell differentiation	IEA
GO:2000738	Process	Positive regulation of stem cell differentiation	ISS
GO:2001051	Process	Positive regulation of tendon cell differentiation	IEA
GO:2001051	Process	Positive regulation of tendon cell differentiation	ISS

MIM	HGNC	e!Ensembl
604453	7984	ENSG00000116833

O00482

Protein name

Nuclear receptor subfamily 5 group A member 2 (Alpha-1-fetoprotein transcription factor) (B1-binding factor) (hB1F) (CYP7A promoter-binding factor) (Hepatocytic transcription factor) (Liver receptor homolog 1) (LRH-1)

Protein function

Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, a

PDB

1YOK , 1YUC , 1ZDU , 2A66 , 3PLZ , 3TX7 , 4DOR , 4DOS , 4IS8 , 4ONI , 4PLD , 4PLE , 4RWV , 5L0M , 5L11 , 5SYZ , 5UNJ , 6OQX , 6OQY , 6OR1 , 6VC2 , 6VIF , 7JYD , 7JYE , 7TT8 , 8F8M , 8PKI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	84 → 153	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	330 → 523	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line (PubMed:9786908). Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells (PubMed:103597

Sequence

MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQG
QMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRY
TCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQ
QKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPF
VTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPAS
IPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWA
RSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQA
GATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAA
LLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKR
A

Sequence length

541

Interactions

View interactions

	KEGG		Reactome
	Maturity onset diabetes of the young		Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Estrogen-dependent gene expression

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 Unknown Diseases (20)

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.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOVULATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	21949357, 27996162, 30273983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29443959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	25176150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25176150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27586588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	19629617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15695411, 16091743, 16427184, 20607599, 20817789, 21392518, 22359603, 23911789, 24520076, 24564400, 25435372, 27809310, 29137369, 29545602, 30122988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16091743, 23667258, 24785096, 32005108, 37551622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22359603	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25675535, 9786908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29137369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	16091743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37204028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30740909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21949357, 22125638, 25742499, 36209277, 36302831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26045277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	24570488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30638865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30686824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	17670946	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35058554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21258413, 25675535, 26320367, 28081303, 28710032, 29128635, 30127869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	23667258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25675535, 28440426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21258413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23867710, 25675535, 28440426, 32037723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28081303	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17670946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17670946	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35058554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22523087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22504882, 31419141, 31751137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22504882, 29662071, 31419141, 31751137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22504882, 31419141, 32631515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	24405868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	24405868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	CTD_human_DG	29515023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	19022561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36140779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26530052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24204738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24204738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28094767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	27586588	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	27586588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35285582, 36303447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	36613637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	19074734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30320362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	30320362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17670946, 30686824, 31419141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17670946, 31419141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	15684064, 30122988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	21949357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	21949357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	16427184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile hemochromatosis	Hemochromatosis	BEFREE	28241066		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15923626		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19483655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19074734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26421305, 26677080, 30122988, 30923324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30638865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30923324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25514243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30273983	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18410452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15695411, 16091743, 20607599, 20817789, 21392518, 22359603, 23911789, 24520076, 24564400, 25435372, 27809310, 29137369, 29545602, 30122988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25951367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30740909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	20101243, 26098869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	20101243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20647474, 21357378, 21949357, 22125638, 24333731, 24769073, 26592175, 27996162, 28639428, 29785120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29438990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27926766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25514243, 27983934, 31114234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18410452, 19074734, 22266285, 23137282, 23537609, 23667258, 24564400, 25951367, 26421305, 27586588, 29042395, 29438990, 30273983, 30320362, 30740909, 31061415, 31114234 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21258413, 25675535, 26320367, 28081303, 28710032, 29128635, 30127869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Ductal Carcinoma	Marfan Syndrome	BEFREE	16091743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15695411, 25435372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16091743		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24642353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24642353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26553876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30344916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19074734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15695411, 18410452, 23911789, 24520076, 24769073, 25435372, 25514243, 25675535, 27579533, 27983934, 28081303, 28445593, 29137369, 29438990, 29545602, 30127869, 30273983, 31114234 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26601667, 28094767, 28552526, 29515023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	29515023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27049310, 29048619, 30273983, 30740909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28094767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	29515023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	16427184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21357378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	23911789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	19629617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25869073, 29207112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	35295989	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	20101243, 29422604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20647474, 21357378, 21949357, 22125638, 24333731, 24769073, 26592175, 27996162, 28639428, 29785120		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	20101243, 26098869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27996162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20101243, 21949357, 22125638, 24058443, 24642353, 26592175, 27579533, 27996162, 32456644, 33517887	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21357378	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	23667258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37445796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29438990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal fibrosis	Renal fibrosis	BEFREE	27345266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35058554	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29515023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25514243, 27983934, 31114234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17952562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25514243, 27983934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31068544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	17409375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17670946		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	23128233, 26192919, 26974007, 28067908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	23128233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

NR5A2 (nuclear receptor subfamily 5 group A member 2)