TBP (TATA-box binding protein)

Gene

• Entrez ID: 6908
• Gene name: TATA-box binding protein
• Gene symbol: TBP
• Synonyms (NCBI Gene): GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID
• Chromosome: 6
• Chromosome location: 6q27
• Summary: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051286	hsa-miR-16-5p	CLASH	23622248
MIRT040014	hsa-miR-615-3p	CLASH	23622248
MIRT734136	hsa-miR-613	Western blotting, Immunofluorescence, qRT-PCR	32943930
MIRT1414826	hsa-miR-1206	CLIP-seq
MIRT1414827	hsa-miR-1273g	CLIP-seq
MIRT1414828	hsa-miR-2110	CLIP-seq
MIRT1414829	hsa-miR-3148	CLIP-seq
MIRT1414830	hsa-miR-3163	CLIP-seq
MIRT1414831	hsa-miR-3529	CLIP-seq
MIRT1414832	hsa-miR-379	CLIP-seq
MIRT1414833	hsa-miR-4271	CLIP-seq
MIRT1414834	hsa-miR-4318	CLIP-seq
MIRT1414835	hsa-miR-4451	CLIP-seq
MIRT1414836	hsa-miR-4490	CLIP-seq
MIRT1414837	hsa-miR-4650-3p	CLIP-seq
MIRT1414838	hsa-miR-4668-5p	CLIP-seq
MIRT1414839	hsa-miR-4725-3p	CLIP-seq
MIRT1414840	hsa-miR-4774-5p	CLIP-seq
MIRT1414841	hsa-miR-548a-3p	CLIP-seq
MIRT1414842	hsa-miR-548ac	CLIP-seq
MIRT1414843	hsa-miR-548ae	CLIP-seq
MIRT1414844	hsa-miR-548aj	CLIP-seq
MIRT1414845	hsa-miR-548am	CLIP-seq
MIRT1414846	hsa-miR-548d-3p	CLIP-seq
MIRT1414847	hsa-miR-548e	CLIP-seq
MIRT1414848	hsa-miR-548f	CLIP-seq
MIRT1414849	hsa-miR-548g	CLIP-seq
MIRT1414850	hsa-miR-548x	CLIP-seq
MIRT1414851	hsa-miR-548z	CLIP-seq
MIRT1414852	hsa-miR-1	CLIP-seq
MIRT1414853	hsa-miR-1231	CLIP-seq
MIRT1414854	hsa-miR-1243	CLIP-seq
MIRT1414855	hsa-miR-128	CLIP-seq
MIRT1414856	hsa-miR-148a	CLIP-seq
MIRT1414857	hsa-miR-148b	CLIP-seq
MIRT1414858	hsa-miR-152	CLIP-seq
MIRT1414859	hsa-miR-15a	CLIP-seq
MIRT1414860	hsa-miR-15b	CLIP-seq
MIRT1414861	hsa-miR-16	CLIP-seq
MIRT1414862	hsa-miR-185	CLIP-seq
MIRT1414863	hsa-miR-195	CLIP-seq
MIRT1414864	hsa-miR-200b	CLIP-seq
MIRT1414865	hsa-miR-200c	CLIP-seq
MIRT1414866	hsa-miR-206	CLIP-seq
MIRT1414867	hsa-miR-2117	CLIP-seq
MIRT1414868	hsa-miR-2277-5p	CLIP-seq
MIRT1414869	hsa-miR-27a	CLIP-seq
MIRT1414870	hsa-miR-27b	CLIP-seq
MIRT1414871	hsa-miR-3128	CLIP-seq
MIRT1414872	hsa-miR-3654	CLIP-seq
MIRT1414873	hsa-miR-3673	CLIP-seq
MIRT1414874	hsa-miR-424	CLIP-seq
MIRT1414875	hsa-miR-4264	CLIP-seq
MIRT1414876	hsa-miR-4273	CLIP-seq
MIRT1414877	hsa-miR-429	CLIP-seq
MIRT1414878	hsa-miR-4306	CLIP-seq
MIRT1414879	hsa-miR-4479	CLIP-seq
MIRT1414880	hsa-miR-4524	CLIP-seq
MIRT1414881	hsa-miR-4644	CLIP-seq
MIRT1414882	hsa-miR-4668-3p	CLIP-seq
MIRT1414883	hsa-miR-4694-3p	CLIP-seq
MIRT1414884	hsa-miR-4704-3p	CLIP-seq
MIRT1414885	hsa-miR-4711-3p	CLIP-seq
MIRT1414886	hsa-miR-4720-5p	CLIP-seq
MIRT1414887	hsa-miR-4778-5p	CLIP-seq
MIRT1414888	hsa-miR-4797-3p	CLIP-seq
MIRT1414889	hsa-miR-4799-3p	CLIP-seq
MIRT1414890	hsa-miR-497	CLIP-seq
MIRT1414891	hsa-miR-503	CLIP-seq
MIRT1414892	hsa-miR-522	CLIP-seq
MIRT1414893	hsa-miR-556-5p	CLIP-seq
MIRT1414894	hsa-miR-646	CLIP-seq
MIRT1414895	hsa-miR-885-3p	CLIP-seq
MIRT1414826	hsa-miR-1206	CLIP-seq
MIRT1414827	hsa-miR-1273g	CLIP-seq
MIRT1414828	hsa-miR-2110	CLIP-seq
MIRT1414829	hsa-miR-3148	CLIP-seq
MIRT1414833	hsa-miR-4271	CLIP-seq
MIRT1414834	hsa-miR-4318	CLIP-seq
MIRT1414838	hsa-miR-4668-5p	CLIP-seq
MIRT1414839	hsa-miR-4725-3p	CLIP-seq
MIRT1414852	hsa-miR-1	CLIP-seq
MIRT1414853	hsa-miR-1231	CLIP-seq
MIRT1414854	hsa-miR-1243	CLIP-seq
MIRT1414855	hsa-miR-128	CLIP-seq
MIRT1414856	hsa-miR-148a	CLIP-seq
MIRT1414857	hsa-miR-148b	CLIP-seq
MIRT1414858	hsa-miR-152	CLIP-seq
MIRT1414859	hsa-miR-15a	CLIP-seq
MIRT1414860	hsa-miR-15b	CLIP-seq
MIRT1414861	hsa-miR-16	CLIP-seq
MIRT1414862	hsa-miR-185	CLIP-seq
MIRT1414863	hsa-miR-195	CLIP-seq
MIRT1414864	hsa-miR-200b	CLIP-seq
MIRT1414865	hsa-miR-200c	CLIP-seq
MIRT1414866	hsa-miR-206	CLIP-seq
MIRT1414867	hsa-miR-2117	CLIP-seq
MIRT1414868	hsa-miR-2277-5p	CLIP-seq
MIRT1414869	hsa-miR-27a	CLIP-seq
MIRT1414870	hsa-miR-27b	CLIP-seq
MIRT1414871	hsa-miR-3128	CLIP-seq
MIRT2346736	hsa-miR-324-5p	CLIP-seq
MIRT1414872	hsa-miR-3654	CLIP-seq
MIRT1414873	hsa-miR-3673	CLIP-seq
MIRT2346737	hsa-miR-371-5p	CLIP-seq
MIRT2346738	hsa-miR-421	CLIP-seq
MIRT1414874	hsa-miR-424	CLIP-seq
MIRT1414875	hsa-miR-4264	CLIP-seq
MIRT1414876	hsa-miR-4273	CLIP-seq
MIRT2346739	hsa-miR-4287	CLIP-seq
MIRT1414877	hsa-miR-429	CLIP-seq
MIRT1414878	hsa-miR-4306	CLIP-seq
MIRT2346740	hsa-miR-4469	CLIP-seq
MIRT1414879	hsa-miR-4479	CLIP-seq
MIRT2346741	hsa-miR-4519	CLIP-seq
MIRT1414880	hsa-miR-4524	CLIP-seq
MIRT1414881	hsa-miR-4644	CLIP-seq
MIRT2346742	hsa-miR-4653-3p	CLIP-seq
MIRT2346743	hsa-miR-4685-3p	CLIP-seq
MIRT1414884	hsa-miR-4704-3p	CLIP-seq
MIRT2346744	hsa-miR-4709-5p	CLIP-seq
MIRT1414885	hsa-miR-4711-3p	CLIP-seq
MIRT2346745	hsa-miR-4713-5p	CLIP-seq
MIRT1414886	hsa-miR-4720-5p	CLIP-seq
MIRT1414887	hsa-miR-4778-5p	CLIP-seq
MIRT1414888	hsa-miR-4797-3p	CLIP-seq
MIRT1414889	hsa-miR-4799-3p	CLIP-seq
MIRT1414890	hsa-miR-497	CLIP-seq
MIRT1414891	hsa-miR-503	CLIP-seq
MIRT2346746	hsa-miR-505	CLIP-seq
MIRT1414893	hsa-miR-556-5p	CLIP-seq
MIRT2346747	hsa-miR-561	CLIP-seq
MIRT1414894	hsa-miR-646	CLIP-seq
MIRT1414895	hsa-miR-885-3p	CLIP-seq
MIRT1414826	hsa-miR-1206	CLIP-seq
MIRT1414827	hsa-miR-1273g	CLIP-seq
MIRT1414828	hsa-miR-2110	CLIP-seq
MIRT1414829	hsa-miR-3148	CLIP-seq
MIRT1414830	hsa-miR-3163	CLIP-seq
MIRT2639357	hsa-miR-340	CLIP-seq
MIRT1414831	hsa-miR-3529	CLIP-seq
MIRT1414832	hsa-miR-379	CLIP-seq
MIRT1414833	hsa-miR-4271	CLIP-seq
MIRT2639358	hsa-miR-4282	CLIP-seq
MIRT1414834	hsa-miR-4318	CLIP-seq
MIRT1414835	hsa-miR-4451	CLIP-seq
MIRT1414836	hsa-miR-4490	CLIP-seq
MIRT1414837	hsa-miR-4650-3p	CLIP-seq
MIRT2346742	hsa-miR-4653-3p	CLIP-seq
MIRT1414838	hsa-miR-4668-5p	CLIP-seq
MIRT1414839	hsa-miR-4725-3p	CLIP-seq
MIRT1414840	hsa-miR-4774-5p	CLIP-seq
MIRT1414841	hsa-miR-548a-3p	CLIP-seq
MIRT1414842	hsa-miR-548ac	CLIP-seq
MIRT1414843	hsa-miR-548ae	CLIP-seq
MIRT1414844	hsa-miR-548aj	CLIP-seq
MIRT1414845	hsa-miR-548am	CLIP-seq
MIRT1414846	hsa-miR-548d-3p	CLIP-seq
MIRT1414847	hsa-miR-548e	CLIP-seq
MIRT1414848	hsa-miR-548f	CLIP-seq
MIRT1414849	hsa-miR-548g	CLIP-seq
MIRT1414850	hsa-miR-548x	CLIP-seq
MIRT1414851	hsa-miR-548z	CLIP-seq
MIRT1414826	hsa-miR-1206	CLIP-seq
MIRT1414827	hsa-miR-1273g	CLIP-seq
MIRT1414828	hsa-miR-2110	CLIP-seq
MIRT1414829	hsa-miR-3148	CLIP-seq
MIRT1414830	hsa-miR-3163	CLIP-seq
MIRT2639357	hsa-miR-340	CLIP-seq
MIRT1414831	hsa-miR-3529	CLIP-seq
MIRT1414832	hsa-miR-379	CLIP-seq
MIRT1414833	hsa-miR-4271	CLIP-seq
MIRT1414834	hsa-miR-4318	CLIP-seq
MIRT1414835	hsa-miR-4451	CLIP-seq
MIRT1414836	hsa-miR-4490	CLIP-seq
MIRT1414837	hsa-miR-4650-3p	CLIP-seq
MIRT2346742	hsa-miR-4653-3p	CLIP-seq
MIRT1414838	hsa-miR-4668-5p	CLIP-seq
MIRT1414839	hsa-miR-4725-3p	CLIP-seq
MIRT1414840	hsa-miR-4774-5p	CLIP-seq
MIRT1414841	hsa-miR-548a-3p	CLIP-seq
MIRT1414842	hsa-miR-548ac	CLIP-seq
MIRT1414843	hsa-miR-548ae	CLIP-seq
MIRT1414844	hsa-miR-548aj	CLIP-seq
MIRT1414845	hsa-miR-548am	CLIP-seq
MIRT1414846	hsa-miR-548d-3p	CLIP-seq
MIRT1414847	hsa-miR-548e	CLIP-seq
MIRT1414848	hsa-miR-548f	CLIP-seq
MIRT1414849	hsa-miR-548g	CLIP-seq
MIRT1414850	hsa-miR-548x	CLIP-seq
MIRT1414851	hsa-miR-548z	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	9238003
BTAF1	Repression	20627952
BTAF1	Unknown	14988402;15509807;16858867
CDX1	Unknown	17158164
CREM	Unknown	10409662
DR1	Repression	16858867
DR1	Unknown	8670811
DRAP1	Unknown	15509807
GTF2A1	Unknown	12818428
HNF4A	Unknown	19805548
NFKB1	Unknown	9023117
RELA	Activation	7706261
RELA	Unknown	9023117
TAF1	Unknown	16858867

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	24289924
GO:0000791	Component	Euchromatin	IDA	19861239
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	7933101, 9027316, 16540471
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	29111974
GO:0000995	Function	RNA polymerase III general transcription initiation factor activity	IMP	26638071
GO:0001046	Function	Core promoter sequence-specific DNA binding	IDA	9841876
GO:0001091	Function	RNA polymerase II general transcription initiation factor binding	IPI	7724559, 8626665, 8670811, 29111974
GO:0001093	Function	TFIIB-class transcription factor binding	IPI	9841876
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IDA	11250903
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0001939	Component	Female pronucleus	IEA
GO:0001940	Component	Male pronucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	1465435, 7667268, 7680771, 7724559, 7729427, 7799929, 8006019, 8504927, 8626665, 9045704, 9603525, 9674425, 9748258, 10391676, 10567391, 10619841, 11029584, 11438666, 12040021, 12217962, 12552007, 15207618, 16641295, 16713569, 17158164, 17268553, 17318177, 17884155, 18391197, 2165363
GO:0005634	Component	Nucleus	EXP	23332750
GO:0005634	Component	Nucleus	IDA	9841876, 27007846
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005668	Component	RNA polymerase transcription factor SL1 complex	IDA	11250903
GO:0005668	Component	RNA polymerase transcription factor SL1 complex	IEA
GO:0005669	Component	Transcription factor TFIID complex	IDA	7729427, 14580349, 27007846, 27193682, 29111974
GO:0005669	Component	Transcription factor TFIID complex	IEA
GO:0005669	Component	Transcription factor TFIID complex	IPI	23332750
GO:0005669	Component	Transcription factor TFIID complex	ISS
GO:0005669	Component	Transcription factor TFIID complex	TAS	2363050
GO:0005672	Component	Transcription factor TFIIA complex	IDA	7724559
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006352	Process	DNA-templated transcription initiation	IBA
GO:0006352	Process	DNA-templated transcription initiation	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IC	7729427
GO:0006366	Process	Transcription by RNA polymerase II	IDA	7724559
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IMP	27193682
GO:0006366	Process	Transcription by RNA polymerase II	TAS	2194289, 2363050
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IC	7729427
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	TAS	2363050
GO:0006383	Process	Transcription by RNA polymerase III	IDA	9027316
GO:0006383	Process	Transcription by RNA polymerase III	IEA
GO:0006383	Process	Transcription by RNA polymerase III	IMP	26638071
GO:0007283	Process	Spermatogenesis	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	9841876, 27193682
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IEA
GO:0017162	Function	Aryl hydrocarbon receptor binding	IPI	15641800
GO:0019899	Function	Enzyme binding	IPI	25336585
GO:0032991	Component	Protein-containing complex	IMP	15641800
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	17884155
GO:0045120	Component	Pronucleus	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IDA	9841876
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IPI	27007846
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	ISS
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	17884155
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	9722567, 11005381, 12676957, 18838386

Other IDs

• MIM: 600075
• HGNC: 11588
• e!Ensembl: ENSG00000112592

Protein

• UniProt ID: P20226
• Protein name: TATA-box-binding protein (TATA sequence-binding protein) (TATA-binding factor) (TATA-box factor) (Transcription initiation factor TFIID TBP subunit)
• Protein function: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TAT
• PDB: 1C9B, 1CDW, 1JFI, 1NVP, 1TGH, 4ROC, 4ROD, 4ROE, 5FUR, 5IY6, 5IY7, 5IY8, 5IY9, 5IYA, 5IYB, 5IYC, 5IYD, 5N9G, 6MZD, 6MZL, 6MZM, 6O9L, 7EDX, 7EG7, 7EG8, 7EG9, 7EGA, 7EGB, 7EGC, 7EGD, 7EGE, 7EGF, 7EGI, 7EGJ, 7ENA, 7ENC, 7LBM, 7NVR, 7NVS, 7NVT, 7NVU, 7NVY, 7NVZ, 7NW0, 7ZWC, 7ZWD, 7ZX7, 7ZX8, 7ZXE, 8BVW, 8BYQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00352	TBP	162 → 244	Transcription factor TFIID (or TATA-binding protein, TBP)	Domain
  PF00352	TBP	252 → 335	Transcription factor TFIID (or TATA-binding protein, TBP)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with levels highest in the testis and ovary. {ECO:0000269|PubMed:17570761}.
• Sequence:

  MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQ
  QQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQAVAAAAVQQSTSQQATQGTSGQAPQ
  LFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSGIVPQLQNIVSTVNLGCKLDL
  KTIALRARNAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARV
  VQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPRI
  VLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKGFRKTT

• Sequence length: 339

Pathways

KEGG:

Basal transcription factors
Huntington disease
Spinocerebellar ataxia
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis

Reactome:

B-WICH complex positively regulates rRNA expression
RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA polymerase II transcribes snRNA genes
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
Estrogen-dependent gene expression

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
Spinocerebellar ataxia type 17	Pathogenic	rs752404282	RCV003322712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Uncertain significance; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBP-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	20353996		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24135907		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23424617	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	37894839	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30617627		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37894839	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	20511187	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	15989694	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	11448935, 11563629, 12758065, 14756671, 19581089, 19659750, 21108634, 22297462, 22971727, 26077168, 29427105, 30760647, 30933216, 31669734		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	14756671, 14763955, 14978680, 16532453, 17149738, 17846415		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	15148151		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32033288, 37240358	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15850778		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32033288	Associate	★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	24102565		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	27667393		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	40197981	Associate	★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	27667393		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16600798, 18485461		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18211679, 39408874, 39838295	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	26694100	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	17786457		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18567809, 28415573	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19200351, 23811755, 37020316	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16600798, 18485461		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17559644	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24457517	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28105927	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26267067, 36476347	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30617627		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	21710129		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	21710129		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28949053		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28949053		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	38282590	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	24102565		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22889412, 31522753, 36422518	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28415573	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28415573, 32424999, 37558778	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17559644		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11571212, 21710129, 28708110		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	11563629, 11939898, 12116198, 12764052, 17420317, 17786457, 17961920, 18651325, 19659750, 20641168, 21108634, 22297462, 26538302, 28708110, 31669734		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28585930		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28585930	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15381080, 28814234		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15381080, 28814234		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15381080, 15848047, 15850778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	32033288	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	26267067, 29089256		★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	15503103		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	15503103		★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	22266404		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37146135	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	39684516	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19257903, 34705606	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30894197		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22530004	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	23424617	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	16037067, 21071415		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28814234		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	12531510		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12805114, 14755733, 16847693, 17786457, 18651325, 19595623, 21108634, 24102565, 25104854, 28153533, 28814234, 29427105, 31669734		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	18418687	Associate	★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	18651325		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28415573	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24859296		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32424999	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16773126		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	22089348		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31173291	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29316424	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29316427		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	11278855	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18317805, 19200351		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23454483		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34752497	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23424617	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15147363	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	19659750, 24972706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12168092		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24324056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16600798, 18485461		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18317805, 28949053		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28949053		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25962577		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16806840, 17071589		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28585930		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16773126		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	33502644	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23424617	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24243817		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19650912, 28662232, 29665677, 9710587		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10484774		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17623797, 29753460		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10484774, 15989694, 17994014		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	16858508		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	15521976		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25573171, 28262749		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26694100, 28105927	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24080205, 38247858	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36978087	Associate	★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14756671, 15365789, 20004653, 25866756, 26354989		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	14756671		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39914017	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19380697		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinsonian Disorders	Parkinson Disease	BEFREE	12853230, 19380697, 21334959, 24765663, 25866756, 26267067, 26705847		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	29116140	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11571212, 21710129, 28708110		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	11571212, 17934876, 21108634		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24324056		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27700103, 8662737	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	16389595		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9502429		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	25768100		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16054804, 19566714, 21601610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16054804, 19566714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19566714	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	15147363	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	16037067, 21071415	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	12758065, 14967767, 15521976, 15989694, 16223509, 16567717, 17033685, 17474109, 17961920, 17994014, 18181206, 18418687, 18651325, 19014922, 19566714, 19581089, 20004653, 20587494, 22297462, 22530004, 23699518, 24413982, 25104854, 26077168, 27859490, 29378605, 29427105, 29936316, 30532692, 31317427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia 17	Spinocerebellar ataxia	Pubtator	15989694, 18418687, 19075547, 19566714, 22530004, 22889412, 25549101, 32377295, 34171784, 34906452, 36422518, 36476347	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 17	Spinocerebellar Ataxia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	24102565		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	24972706		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	24972706, 33502644, 34171784, 34565721, 39456985	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19650912	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19650912		★☆☆☆☆ Found in Text Mining only
Thrombophlebitis	Thrombophlebitis	Pubtator	23424617	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	18211679	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33057113, 37542643	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	15816839, 17071589, 21426408, 28836394		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	15816839, 17071589, 21426408, 28836394		★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only