HDAC4 (histone deacetylase 4)

Gene

• Entrez ID: 9759
• Gene name: Histone deacetylase 4
• Gene symbol: HDAC4
• Synonyms (NCBI Gene): AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA, NEDCHF, NEDCHID
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115552422	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138137158	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139841625	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142279745	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148880349	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, synonymous variant
rs199918439	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs372078034	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs756574089	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1064797002	G>A	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001053	hsa-miR-1-3p	Western blot	18818206
MIRT000693	hsa-miR-140-5p	qRT-PCR, Western blot	19734943
MIRT001053	hsa-miR-1-3p	Luciferase reporter assay	18818206
MIRT000693	hsa-miR-140-5p	Luciferase reporter assay	19734943
MIRT001053	hsa-miR-1-3p	Review	19815577
MIRT001053	hsa-miR-1-3p	Review	20140609
MIRT001053	hsa-miR-1-3p	Western blot	18593903
MIRT004035	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	20842113
MIRT000096	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT007109	hsa-miR-30c-5p	qRT-PCR, Western blot	23469762
MIRT004035	hsa-miR-22-3p	Luciferase reporter assay	23349832
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT054097	hsa-miR-302b-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23484053
MIRT438358	hsa-miR-206	Flow, qRT-PCR	24855559
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT438358	hsa-miR-206	Flow, qRT-PCR	24855559
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT657476	hsa-miR-4282	HITS-CLIP	23824327
MIRT657475	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT657474	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT657473	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT657472	hsa-miR-4686	HITS-CLIP	23824327
MIRT657471	hsa-miR-587	HITS-CLIP	23824327
MIRT657470	hsa-miR-3149	HITS-CLIP	23824327
MIRT727513	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727512	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT000096	hsa-miR-29b-3p	Luciferase reporter assay	27022108
MIRT000096	hsa-miR-29b-3p	ChIP immunoprecipitation, Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27196750
MIRT735564	hsa-miR-483-5p	ELISA, Luciferase reporter assay, qRT-PCR	34126643
MIRT736694	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33116874
MIRT735564	hsa-miR-483-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	23431031
MIRT000096	hsa-miR-29b-3p	qRT-PCR	32681233
MIRT657476	hsa-miR-4282	HITS-CLIP	23824327
MIRT657475	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT657474	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT657473	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT657472	hsa-miR-4686	HITS-CLIP	23824327
MIRT657471	hsa-miR-587	HITS-CLIP	23824327
MIRT657470	hsa-miR-3149	HITS-CLIP	23824327
MIRT755886	hsa-miR-330-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37711168
MIRT1042454	hsa-miR-136	CLIP-seq
MIRT1042455	hsa-miR-1909	CLIP-seq
MIRT1042456	hsa-miR-1915	CLIP-seq
MIRT1042457	hsa-miR-29a	CLIP-seq
MIRT1042458	hsa-miR-29b	CLIP-seq
MIRT1042459	hsa-miR-29c	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT1042463	hsa-miR-3609	CLIP-seq
MIRT1042464	hsa-miR-3649	CLIP-seq
MIRT1042465	hsa-miR-4270	CLIP-seq
MIRT1042466	hsa-miR-4316	CLIP-seq
MIRT1042467	hsa-miR-4328	CLIP-seq
MIRT1042468	hsa-miR-4441	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT1042470	hsa-miR-4503	CLIP-seq
MIRT1042471	hsa-miR-4643	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042474	hsa-miR-4726-3p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT1042477	hsa-miR-520g	CLIP-seq
MIRT1042478	hsa-miR-520h	CLIP-seq
MIRT1042479	hsa-miR-548ah	CLIP-seq
MIRT1042480	hsa-miR-711	CLIP-seq
MIRT2008965	hsa-miR-1205	CLIP-seq
MIRT2008966	hsa-miR-1208	CLIP-seq
MIRT2008967	hsa-miR-1321	CLIP-seq
MIRT2008968	hsa-miR-2277-3p	CLIP-seq
MIRT2008969	hsa-miR-3120-3p	CLIP-seq
MIRT2008970	hsa-miR-3121-3p	CLIP-seq
MIRT2008971	hsa-miR-3153	CLIP-seq
MIRT2008972	hsa-miR-3166	CLIP-seq
MIRT2008973	hsa-miR-3660	CLIP-seq
MIRT2008974	hsa-miR-3665	CLIP-seq
MIRT2008975	hsa-miR-3673	CLIP-seq
MIRT2008976	hsa-miR-3677-5p	CLIP-seq
MIRT2008977	hsa-miR-4252	CLIP-seq
MIRT1042465	hsa-miR-4270	CLIP-seq
MIRT1042468	hsa-miR-4441	CLIP-seq
MIRT2008978	hsa-miR-4446-5p	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT2008979	hsa-miR-4514	CLIP-seq
MIRT2008980	hsa-miR-4526	CLIP-seq
MIRT2008981	hsa-miR-4661-3p	CLIP-seq
MIRT2008982	hsa-miR-4668-3p	CLIP-seq
MIRT2008983	hsa-miR-4672	CLIP-seq
MIRT2008984	hsa-miR-4692	CLIP-seq
MIRT2008985	hsa-miR-4701-5p	CLIP-seq
MIRT2008986	hsa-miR-4728-5p	CLIP-seq
MIRT2008987	hsa-miR-4733-3p	CLIP-seq
MIRT2008988	hsa-miR-4739	CLIP-seq
MIRT2008989	hsa-miR-4742-5p	CLIP-seq
MIRT2008990	hsa-miR-4755-5p	CLIP-seq
MIRT2008991	hsa-miR-4756-5p	CLIP-seq
MIRT2008992	hsa-miR-4771	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT2008993	hsa-miR-518a-5p	CLIP-seq
MIRT2008994	hsa-miR-527	CLIP-seq
MIRT2008995	hsa-miR-548m	CLIP-seq
MIRT2008996	hsa-miR-588	CLIP-seq
MIRT2008997	hsa-miR-642a	CLIP-seq
MIRT2008998	hsa-miR-657	CLIP-seq
MIRT2008966	hsa-miR-1208	CLIP-seq
MIRT2241317	hsa-miR-1244	CLIP-seq
MIRT2241318	hsa-miR-1245b-5p	CLIP-seq
MIRT2241319	hsa-miR-1257	CLIP-seq
MIRT2241320	hsa-miR-141	CLIP-seq
MIRT2241321	hsa-miR-188-5p	CLIP-seq
MIRT2241322	hsa-miR-200a	CLIP-seq
MIRT2241323	hsa-miR-204	CLIP-seq
MIRT2241324	hsa-miR-211	CLIP-seq
MIRT2241325	hsa-miR-2682	CLIP-seq
MIRT2008969	hsa-miR-3120-3p	CLIP-seq
MIRT2241326	hsa-miR-3121-5p	CLIP-seq
MIRT2241327	hsa-miR-3142	CLIP-seq
MIRT2008971	hsa-miR-3153	CLIP-seq
MIRT2241328	hsa-miR-3616-3p	CLIP-seq
MIRT2241329	hsa-miR-3692	CLIP-seq
MIRT2241330	hsa-miR-3922-5p	CLIP-seq
MIRT2241331	hsa-miR-3942-5p	CLIP-seq
MIRT2241332	hsa-miR-4267	CLIP-seq
MIRT2241333	hsa-miR-4303	CLIP-seq
MIRT2241334	hsa-miR-4420	CLIP-seq
MIRT2008978	hsa-miR-4446-5p	CLIP-seq
MIRT2241335	hsa-miR-4452	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT2241336	hsa-miR-449c	CLIP-seq
MIRT2008979	hsa-miR-4514	CLIP-seq
MIRT2241337	hsa-miR-452	CLIP-seq
MIRT2008981	hsa-miR-4661-3p	CLIP-seq
MIRT2008982	hsa-miR-4668-3p	CLIP-seq
MIRT2241338	hsa-miR-4676-3p	CLIP-seq
MIRT2241339	hsa-miR-4682	CLIP-seq
MIRT2241340	hsa-miR-4691-3p	CLIP-seq
MIRT2241341	hsa-miR-4691-5p	CLIP-seq
MIRT2008984	hsa-miR-4692	CLIP-seq
MIRT2008985	hsa-miR-4701-5p	CLIP-seq
MIRT2241342	hsa-miR-4703-3p	CLIP-seq
MIRT2241343	hsa-miR-4703-5p	CLIP-seq
MIRT2241344	hsa-miR-4705	CLIP-seq
MIRT2008986	hsa-miR-4728-5p	CLIP-seq
MIRT2008990	hsa-miR-4755-5p	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT2008993	hsa-miR-518a-5p	CLIP-seq
MIRT2008994	hsa-miR-527	CLIP-seq
MIRT2241345	hsa-miR-539	CLIP-seq
MIRT2008996	hsa-miR-588	CLIP-seq
MIRT2241346	hsa-miR-647	CLIP-seq
MIRT2241347	hsa-miR-653	CLIP-seq
MIRT2008965	hsa-miR-1205	CLIP-seq
MIRT2008974	hsa-miR-3665	CLIP-seq
MIRT2008989	hsa-miR-4742-5p	CLIP-seq
MIRT2008998	hsa-miR-657	CLIP-seq
MIRT2429509	hsa-miR-1297	CLIP-seq
MIRT2429510	hsa-miR-26a	CLIP-seq
MIRT2429511	hsa-miR-26b	CLIP-seq
MIRT2429512	hsa-miR-4465	CLIP-seq
MIRT2437562	hsa-miR-218	CLIP-seq
MIRT2437563	hsa-miR-3155	CLIP-seq
MIRT2437564	hsa-miR-3155b	CLIP-seq
MIRT2437565	hsa-miR-4258	CLIP-seq
MIRT2437566	hsa-miR-4448	CLIP-seq
MIRT2437567	hsa-miR-4659a-3p	CLIP-seq
MIRT2437568	hsa-miR-4659b-3p	CLIP-seq
MIRT2437569	hsa-miR-4780	CLIP-seq
MIRT2437570	hsa-miR-484	CLIP-seq
MIRT2437571	hsa-miR-574-5p	CLIP-seq
MIRT2437572	hsa-miR-623	CLIP-seq
MIRT2437573	hsa-miR-636	CLIP-seq
MIRT2437574	hsa-miR-648	CLIP-seq
MIRT2437575	hsa-miR-759	CLIP-seq
MIRT2545028	hsa-miR-1913	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT2545029	hsa-miR-324-3p	CLIP-seq
MIRT2545030	hsa-miR-4313	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq
MIRT2545028	hsa-miR-1913	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT2545029	hsa-miR-324-3p	CLIP-seq
MIRT2545030	hsa-miR-4313	CLIP-seq
MIRT2682231	hsa-miR-451b	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	16280357
SP3	Activation	16280357

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0000118	Component	Histone deacetylase complex	IDA	11804585
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16236793
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10869435
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	15743821
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18850004, 19276356
GO:0000785	Component	Chromatin	IDA	31127039
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18850004
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24413532
GO:0001216	Function	DNA-binding transcription activator activity	IDA	19071119
GO:0004407	Function	Histone deacetylase activity	IBA
GO:0004407	Function	Histone deacetylase activity	IDA	10220385, 10869435, 12590135
GO:0004407	Function	Histone deacetylase activity	IEA
GO:0005515	Function	Protein binding	IPI	10869435, 10958686, 11463856, 11504882, 11804585, 15161933, 15194749, 15778465, 15964851, 16147992, 16166628, 16767219, 16919237, 17159145, 17979178, 18045992, 18163532, 19071119, 20116378, 20936779, 21242980, 21988832, 22649097, 23752268, 24229708, 24255178, 24413532, 25416956, 264
GO:0005634	Component	Nucleus	IDA	10869435, 19281832, 23867755, 26019235
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10869435, 19281832
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	18850004
GO:0006476	Process	Protein deacetylation	IDA	27708256
GO:0006954	Process	Inflammatory response	TAS	12711221
GO:0007399	Process	Nervous system development	TAS	12711221
GO:0008270	Function	Zinc ion binding	IDA	18614528
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18850004
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	10983972
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IMP	19276356
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	TAS	17011572
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016925	Process	Protein sumoylation	TAS
GO:0017053	Component	Transcription repressor complex	IDA	11804585
GO:0019789	Function	SUMO transferase activity	EXP	17218271
GO:0030183	Process	B cell differentiation	TAS	12711221
GO:0030955	Function	Potassium ion binding	IDA	18614528
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	17696781
GO:0033558	Function	Protein lysine deacetylase activity	IDA	18614528
GO:0033558	Function	Protein lysine deacetylase activity	IEA
GO:0033558	Function	Protein lysine deacetylase activity	TAS
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042113	Process	B cell activation	TAS	12711221
GO:0042393	Function	Histone binding	IDA	19276356
GO:0042802	Function	Identical protein binding	IPI	17360518
GO:0042826	Function	Histone deacetylase binding	IPI	10869435, 12590135
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	10869435, 18614528
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	18850004, 24413532
GO:0045820	Process	Negative regulation of glycolytic process	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19071119
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	31127039
GO:0060337	Process	Type I interferon-mediated signaling pathway	IDA	31127039
GO:0060337	Process	Type I interferon-mediated signaling pathway	IMP	23391734
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	18850004, 19071119, 23867755
GO:0070555	Process	Response to interleukin-1	IMP	19281832
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	10983972, 11804585
GO:0141221	Function	Histone deacetylase activity, hydrolytic mechanism	IEA

Other IDs

• MIM: 605314
• HGNC: 14063
• e!Ensembl: ENSG00000068024

Protein

• UniProt ID: P56524
• Protein name: Histone deacetylase 4 (HD4) (EC 3.5.1.98)
• Protein function: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell c
• PDB: 2H8N, 2O94, 2VQJ, 2VQM, 2VQO, 2VQQ, 2VQV, 2VQW, 3UXG, 3UZD, 3V31, 4CBT, 4CBY, 5A2S, 5ZOO, 5ZOP, 6FYZ, 7XUZ, 8PDE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12203	HDAC4_Gln	62 → 152	Glutamine rich N terminal domain of histone deacetylase 4	Family
  PF00850	Hist_deacetyl	675 → 992	Histone deacetylase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSSQSHPDGLSGRDQPVELLNPARVNHMPSTVDVATALPLQVAPSAVPMDLRLDHQFSLP
  VAEPALREQQLQQELLALKQKQQIQRQILIAEFQRQHEQLSRQHEAQLHEHIKQQQEMLA
  MKHQQELLEHQRKLERHRQEQELEKQHREQKLQQLKNKEKGKESAVASTEVKMKLQEFVL
  NKKKALAHRNLNHCISSDPRYWYGKTQHSSLDQSSPPQSGVSTSYNHPVLGMYDAKDDFP
  LRKTASEPNLKLRSRLKQKVAERRSSPLLRRKDGPVVTALKKRPLDVTDSACSSAPGSGP
  SSPNNSSGSVSAENGIAPAVPSIPAETSLAHRLVAREGSAAPLPLYTSPSLPNITLGLPA
  TGPSAGTAGQQDAERLTLPALQQRLSLFPGTHLTPYLSTSPLERDGGAAHSPLLQHMVLL
  EQPPAQAPLVTGLGALPLHAQSLVGADRVSPSIHKLRQHRPLGRTQSAPLPQNAQALQHL
  VIQQQHQQFLEKHKQQFQQQQLQMNKIIPKPSEPARQPESHPEETEEELREHQALLDEPY
  LDRLPGQKEAHAQAGVQVKQEPIESDEEEAEPPREVEPGQRQPSEQELLFRQQALLLEQQ
  RIHQLRNYQASMEAAGIPVSFGGHRPLSRAQSSPASATFPVSVQEPPTKPRFTTGLVYDT
  LMLKHQCTCGSSSSHPEHAGRIQSIWSRLQETGLRGKCECIRGRKATLEELQTVHSEAHT
  LLYGTNPLNRQKLDSKKLLGSLASVFVRLPCGGVGVDSDTIWNEVHSAGAARLAVGCVVE
  LVFKVATGELKNGFAVVRPPGHHAEESTPMGFCYFNSVAVAAKLLQQRLSVSKILIVDWD
  VHHGNGTQQAFYSDPSVLYMSLHRYDDGNFFPGSGAPDEVGTGPGVGFNVNMAFTGGLDP
  PMGDAEYLAAFRTVVMPIASEFAPDVVLVSSGFDAVEGHPTPLGGYNLSARCFGYLTKQL
  MGLAGGRIVLALEGGHDLTAICDASEACVSALLGNELDPLPEKVLQQRPNANAVRSMEKV
  MEIHSKYWRCLQRTTSTAGRSLIEAQTCENEEAETVTAMASLSVGVKPAEKRPDEEPMEE
  EPPL

• Sequence length: 1084

Pathways

KEGG:

Apelin signaling pathway
Neutrophil extracellular trap formation
Alcoholism
Viral carcinogenesis
MicroRNAs in cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
SUMOylation of intracellular receptors
SUMOylation of chromatin organization proteins
RUNX3 regulates p14-ARF

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
Brachydactyly syndrome type E	Pathogenic	rs1064797002	RCV001824806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q37 deletion syndrome	Pathogenic	rs748900140, rs1064797002	RCV000005373 RCV002286740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HDAC4-related disorder	Likely pathogenic; Pathogenic	rs2042442594	RCV003399032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs372078034	RCV000984097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Pathogenic; Likely pathogenic	rs2152917882, rs2152917896, rs1064797002, rs2042442594	RCV001849236 RCV001849237 RCV001849182 RCV002069355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound intellectual disability	Pathogenic	rs1064797002	RCV001290415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs2042442594	RCV001290416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
2Q37 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA TELANGIECTASIA	—	Disgenet	★★☆☆☆ 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
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE E	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES COMPLICATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER association	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2q37 microdeletion syndrome	2q37 Deletion Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20636436		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27766571		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30252536		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36039643	Associate	★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23169640		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23824486, 30713114		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28842714	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31500290		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	29256967, 30742020		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	29256967	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31169064		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31169064		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29483552, 30068332		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29685964, 33845782	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35756425	Inhibit	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30287865	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27282419		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24768552	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23169640		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21507255, 31137849		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21507255		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	31817742	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	20691407	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CTD_human_DG	20691407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	BEFREE	22753018, 23188045, 24715439, 25402011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly Type E	Brachydactyly	Pubtator	20691407, 23188045	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24079712, 25504437		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24079712	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25791281, 27295551	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18593903	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34348664	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21507255, 31137849		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30106218		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33099316	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22402494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21571862, 30867818		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31078585		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34895303	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	31276691		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	25424126, 25515592, 27072078	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	31552187		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28127553		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23948281		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26441331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26441331	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	Pubtator	19509297	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	20041488, 23893747	Associate	★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	34057022	Inhibit	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	25557107	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	GENOMICS_ENGLAND_DG	19365831, 20691407, 25402011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	BEFREE	20691407, 22753018, 23188045, 23645122, 24715439, 25329715, 25402011, 30848064		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	ORPHANET_DG	20691407, 23188045		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q37 deletion syndrome	2q37 Deletion Syndrome	CTD_human_DG	20691407		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromosome 2q37 deletion syndrome	Chromosome 2q37 deletion syndrome	Pubtator	20691407, 23188045, 29921581, 31990478	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31817742		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32711442, 36982429	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30615846		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23188045		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24079712		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	BEFREE	26822876		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23434587, 31195810		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30134825		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	25424126, 27023516, 28664830, 30145794, 31310910		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20691407, 23188045, 24768552	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30968599		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30968599, 31195810		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37062177	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31195810		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	33096729	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35392987	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	24717296, 31690769		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23169640		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	24216484, 27884425, 29256967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30787615		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	27466189		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27295551		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27295551, 35193602	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27295551	Stimulate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	23188045	Associate	★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	CTD_human_DG	22711276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	28548935, 28919365, 30130789		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18850004, 21508384, 28342984, 28735518		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24079712, 28735518	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18850004, 21508384, 28342984, 28735518		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25557107, 30272277, 30837601, 30963560		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25557107	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25791281, 35545840, 37528157	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23188045		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30131570		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30131570	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22865920, 37096653	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	17179159		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23434587, 31195810		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27766571, 27864740		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	27766571	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23349832, 25155142, 26540094, 30145395, 31040226		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30045016		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	30045016	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	25515592, 33840739, 35756425	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21917920	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34057022	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37149664	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25612003	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28352664		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	27798109		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31103287	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29880327		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24086512, 39180924	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	20691407		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	22753018, 24715439, 27798109		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31990478	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36746221	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29880327		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30208931		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	33933144	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28419090, 31754707	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27766571		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27766571	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18593903, 20842113, 28646552, 31635225		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30106218, 35864951	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25076845		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	34057022	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30131570		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24079712, 25504437, 26206152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28646552		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30106218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21571862, 30867818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19013255, 23618920, 25335771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24896240, 25873202, 29039602		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21507255, 31137849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21507255		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17363583, 20842113, 22781396, 23149916, 27295551, 30272277, 31052182		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	24075665	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20691407		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19767015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19767015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	31169064		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	24715439		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder	Cognitive disorder	BEFREE	29439356		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	19767015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25482492, 26433312, 35369902	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	25801913, 27196750, 30842339		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial Infarction	Myocardial Infarction	BEFREE	30284520, 30998979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30134825		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37023940	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18850004, 21571862, 23873102, 26502922, 27295551, 28646552, 31703394		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31708743		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28154524		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27785754		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17145876		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24086512, 24768298, 29797594		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24086512	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25651499, 31216936, 33487124	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25424126, 25515592	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	37446153	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28471397		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28471397, 29917181, 31248594		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33461610	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29893594, 30094957, 31552187		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29893594, 35211755	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21571862, 30867818		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25275504, 26502922, 37149664, 38297362	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21642358		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27785754, 30503143		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30503143	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30503143	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	31216936		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28093566		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29886060		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23948281		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20691407		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23618920, 25335771		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25335771	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	22277900, 23645122, 25402011		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	23188045	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25369292, 31817742, 37373058	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	26437241		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28336812, 28961490		★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia	Pulmonary Hypertension With Hereditary Hemorrhagic Telangiectasia	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30951378		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26272629		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30315623		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27488535		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31492495		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	36301023	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24043307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17961987, 20471694, 28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17961987, 20471694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17961987	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	29988587		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	31751569		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29511449		★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	20691407		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22798624		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27295551		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36362284	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24896240, 25873202, 29039602		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24896240	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34232196, 35637410	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31708743		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21642358	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23873102	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31918310	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	23873102	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	31817742	Associate	★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30155966		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21507255	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35685866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30064501		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31555735		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29529137		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	20519629	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	27798109		★☆☆☆☆ Found in Text Mining only