ESRRB (estrogen related receptor beta)

Gene

• Entrez ID: 2103
• Gene name: Estrogen related receptor beta
• Gene symbol: ESRRB
• Synonyms (NCBI Gene): DFNB35, ERR beta-2, ERR2, ERRb, ERRbeta2, ESRL2, NR3B2
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909110	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909111	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs188462546	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs202023138	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs375916159	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs727503041	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727504577	CGGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876657643	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060499794	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555344820	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017698	hsa-miR-335-5p	Microarray	18185580
MIRT437524	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT527878	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT527877	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT527876	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT527875	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT527874	hsa-miR-6769a-5p	PAR-CLIP	22012620
MIRT527873	hsa-miR-6769b-5p	PAR-CLIP	22012620
MIRT527872	hsa-miR-6748-5p	PAR-CLIP	22012620
MIRT527878	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT527877	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT527876	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT527875	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT527874	hsa-miR-6769a-5p	PAR-CLIP	22012620
MIRT527873	hsa-miR-6769b-5p	PAR-CLIP	22012620
MIRT527872	hsa-miR-6748-5p	PAR-CLIP	22012620
MIRT971039	hsa-miR-1910	CLIP-seq
MIRT971040	hsa-miR-224	CLIP-seq
MIRT971041	hsa-miR-2392	CLIP-seq
MIRT971042	hsa-miR-3183	CLIP-seq
MIRT971043	hsa-miR-3649	CLIP-seq
MIRT971044	hsa-miR-378	CLIP-seq
MIRT971045	hsa-miR-378b	CLIP-seq
MIRT971046	hsa-miR-378c	CLIP-seq
MIRT971047	hsa-miR-378d	CLIP-seq
MIRT971048	hsa-miR-378e	CLIP-seq
MIRT971049	hsa-miR-378f	CLIP-seq
MIRT971050	hsa-miR-378h	CLIP-seq
MIRT971051	hsa-miR-378i	CLIP-seq
MIRT971052	hsa-miR-3909	CLIP-seq
MIRT971053	hsa-miR-422a	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT971055	hsa-miR-4436b-5p	CLIP-seq
MIRT971056	hsa-miR-4469	CLIP-seq
MIRT971057	hsa-miR-4522	CLIP-seq
MIRT971058	hsa-miR-455-3p	CLIP-seq
MIRT971059	hsa-miR-4638-3p	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT971061	hsa-miR-4723-3p	CLIP-seq
MIRT971062	hsa-miR-4802-3p	CLIP-seq
MIRT971063	hsa-miR-671-5p	CLIP-seq
MIRT971064	hsa-miR-711	CLIP-seq
MIRT1987686	hsa-miR-1290	CLIP-seq
MIRT1987687	hsa-miR-3167	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT1987688	hsa-miR-4307	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT1987689	hsa-miR-4707-5p	CLIP-seq
MIRT1987690	hsa-miR-876-5p	CLIP-seq
MIRT2222108	hsa-miR-4271	CLIP-seq
MIRT971055	hsa-miR-4436b-5p	CLIP-seq
MIRT2222109	hsa-miR-4725-3p	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT1987689	hsa-miR-4707-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000793	Component	Condensed chromosome	ISS
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	17920186
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	ISS
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0000993	Function	RNA polymerase II complex binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001892	Process	Embryonic placenta development	NAS	19196830
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003707	Function	Nuclear steroid receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	ISS
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	17920186, 19755138, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	23836911
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:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IDA	19755138
GO:0017145	Process	Stem cell division	ISS
GO:0019827	Process	Stem cell population maintenance	IDA	25522312
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032039	Component	Integrator complex	ISS
GO:0034056	Function	Estrogen response element binding	IBA
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	12654265
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043697	Process	Cell dedifferentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0140001	Process	Morula formation	ISS
GO:1902459	Process	Positive regulation of stem cell population maintenance	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000035	Process	Regulation of stem cell division	ISS
GO:2000737	Process	Negative regulation of stem cell differentiation	ISS

Other IDs

• MIM: 602167
• HGNC: 3473
• e!Ensembl: ENSG00000119715

Protein

• UniProt ID: O95718
• Protein name: Steroid hormone receptor ERR2 (ERR beta-2) (Estrogen receptor-like 2) (Estrogen-related receptor beta) (ERR-beta) (Nuclear receptor subfamily 3 group B member 2)
• Protein function: [Isoform 3]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19
• PDB: 1LO1, 6LIT, 6LN4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	101 → 170	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	236 → 416	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPP
  MFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASC
  EACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRG
  GRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKAL
  TTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLV
  YAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDL
  EAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVP
  MHKLFLEMLEAKV

• Sequence length: 433

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Reactome:

Nuclear Receptor transcription pathway

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive nonsyndromic hearing loss 35	Likely pathogenic; Pathogenic	rs1485778712, rs1555342141, rs1229308767, rs121909110, rs121909111, rs1060499794, rs375916159	RCV001329257 RCV001528172 RCV000007927 RCV000007928 RCV000007929 RCV000454320 RCV000454210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ESRRB-related disorder	Likely pathogenic	rs1261105707	RCV003942226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs727504577, rs727503041, rs876657643, rs1555344820, rs202023138	RCV000155747 RCV000150664 RCV000218592 RCV000608436 RCV000616856	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 35	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing loss, autosomal recessive	Likely benign; Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19644015, 22843091		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	20515574		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	28130335		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21506092		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28672989		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21441909, 28258823, 29282318		★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23028043, 25557355, 30441799		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12527905, 19622763, 22359603, 22693611, 22723937, 23139210, 23911789, 25435372, 27363015, 29843638, 29940916, 31741180, 9070291		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22359603, 24667650, 27363015, 29843638, 29940916, 32168782, 35092367, 37350664	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31741180, 32839427	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28130335, 30342030		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28130335		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28130335		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	20515574		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10359536		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23809767, 25064356		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	16275267, 17054473		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31368079		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	15958501, 31741180	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 35	Deafness	Pubtator	18179891	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 35	Deafness	UNIPROT_DG	18179891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 35	Deafness	GENOMICS_ENGLAND_DG	9344655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 35	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 35	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	17075855		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15947483		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19682370	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15735892		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15947483		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11861507		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26530052		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	39678195	Inhibit	★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	9060841		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18419761, 27363015, 31570001		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18419761, 27363015, 31570001		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25938503, 31835641, 32681043, 33524517, 34194829, 35101039, 39261511	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30320362		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	26396259		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10341858, 17054473, 8675564		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23050013	Stimulate	★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	30214252		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28977843		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24837095		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28130335		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21637284	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28793767		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18577687, 22292081		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19571598		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12527905, 19622763, 19746521, 22359603, 22693611, 22723937, 23139210, 23911789, 25435372, 27363015, 29843638, 29940916, 31741180, 9070291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11861507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24122412, 24515801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11241556, 18071305, 23532770, 25557355, 29360794, 29555975		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18591936, 22025681, 22266285, 22998183, 23690307, 23821160, 24122412, 25687954, 26035713, 26992368, 30320362		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29843638, 31741180		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20515574		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27871853, 30013988, 30344916		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23803035	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22292081, 24891616, 29843638		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	31570001		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	12529709		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29635284		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23129017		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	17765677, 18179891, 21802533, 22567352, 22951369, 25342930		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	18179891		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16286534		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22174013		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26946093		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34089362	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24122412, 24515801		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24515801	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11241556, 15305379, 18071305, 25557355, 29360794, 29555975		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12947120, 15305379, 20128821, 23679312, 26627478, 37350664	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18071305		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31368079		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	37179305	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28109308		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	25219474		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	30375864		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28977843		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23950896	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	17110325		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	26584852, 29175417		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27363015, 28314283, 31741180		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31741180	Inhibit	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19571598		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25878394	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37350664	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	10341858, 11220702, 16275267, 16645015, 17054473, 8675564, 9032275		★☆☆☆☆ Found in Text Mining only