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HDAC4 (histone deacetylase 4)

Gene

9759

Histone deacetylase 4

HDAC4

AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA, NEDCHF, NEDCHID

2q37.3

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

Show/Hide all(9)

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

Show/Hide all(198)

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

Show/Hide all(2)

Transcription factor	Regulation	Reference
SP1	Activation	16280357
SP3	Activation	16280357

Show/Hide all(80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	11804585
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10869435, 16236793
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:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	18850004
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24413532
GO:0001085	Function	RNA polymerase II transcription factor binding	IPI	23867755
GO:0001501	Process	Skeletal system development	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0004407	Function	Histone deacetylase activity	IDA	10220385, 10869435
GO:0005515	Function	Protein binding	IPI	10869435, 10958686, 11463856, 11504882, 11804585, 15161933, 15194749, 15778465, 15964851, 16147992, 16166628, 16767219, 16919237, 17159145, 17979178, 18045992, 18163532, 20116378, 20936779, 21242980, 21988832, 22649097, 23752268, 24229708, 24255178, 24413532, 25416956, 26496610, 277
GO:0005634	Component	Nucleus	IDA	10869435, 19281832, 23867755, 26019235
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10869435, 19281832
GO:0005829	Component	Cytosol	IDA
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:0008134	Function	Transcription factor binding	IPI	18850004, 19071119
GO:0008270	Function	Zinc ion binding	IDA	18614528
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18850004
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	10983972
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IEA
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:0014911	Process	Positive regulation of smooth muscle cell migration	IEA
GO:0016575	Process	Histone deacetylation	IDA	10869435
GO:0016575	Process	Histone deacetylation	IMP	18850004
GO:0016607	Component	Nuclear speck	IDA
GO:0016925	Process	Protein sumoylation	IEA
GO:0017053	Component	Transcription repressor complex	IDA	11804585
GO:0019789	Function	SUMO transferase activity	EXP	17218271
GO:0019901	Function	Protein kinase binding	IEA
GO:0030018	Component	Z disc	IEA
GO:0030183	Process	B cell differentiation	TAS	12711221
GO:0030955	Function	Potassium ion binding	IDA	18614528
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031672	Component	A band	IEA
GO:0032041	Function	NAD-dependent histone deacetylase activity (H3-K14 specific)	IEA
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	17696781
GO:0033558	Function	Protein deacetylase activity	IDA	18614528
GO:0033558	Function	Protein deacetylase activity	TAS
GO:0033613	Function	Activating transcription factor binding	IPI	10983972
GO:0034983	Process	Peptidyl-lysine deacetylation	IDA	18614528
GO:0040029	Process	Regulation of gene expression, epigenetic	IMP	24413532
GO:0042113	Process	B cell activation	TAS	12711221
GO:0042493	Process	Response to drug	IEA
GO:0042641	Component	Actomyosin	IEA
GO:0042802	Function	Identical protein binding	IPI	17360518
GO:0042826	Function	Histone deacetylase binding	IPI	10869435, 12590135
GO:0043393	Process	Regulation of protein binding	IMP	19071119
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IMP	18850004
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	19276356
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045820	Process	Negative regulation of glycolytic process	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	10869435
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	19276356
GO:0045893	Process	Positive regulation of transcription, DNA-templated	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:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048742	Process	Regulation of skeletal muscle fiber development	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	19071119
GO:0070491	Function	Repressing transcription factor binding	IPI	11804585
GO:0070555	Process	Response to interleukin-1	IMP	19281832
GO:0070932	Process	Histone H3 deacetylation	IDA	12590135
GO:0070933	Process	Histone H4 deacetylation	IDA	12590135
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IEA
GO:1902437	Process	Positive regulation of male mating behavior	IEA
GO:1902894	Process	Negative regulation of pri-miRNA transcription by RNA polymerase II	IEA
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
605314	14063	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

Sequence

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

Sequence length

1084

Interactions

View interactions

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

Show/Hide Causal Diseases (19)

Causal
Disease name	Disease term	dbSNP ID	References
2q37 deletion syndrome	Chromosome 2q37 deletion syndrome, 2q37 microdeletion syndrome	rs748900140, rs1064797002	20691407, 25402011, 19365831, 23188045
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142	20691407
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	20691407
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	30429480
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954	22711276
Pulmonary hypertension	Familial primary pulmonary hypertension, Pulmonary Hypertension, Primary, 1	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	22711276
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17961987, 20471694

Show/Hide Unknown Diseases (22)

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory nipple	Accessory nipple
Urinary bladder cancer	Malignant neoplasm of urinary bladder		21507255
Bladder neoplasm	Bladder Neoplasm		21507255
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital exomphalos	Congenital exomphalos
Dwarfism	Dwarfism
Dyssomnia	Dyssomnias
Eczema	Eczema
Frontal bossing	Frontal bossing
Laryngomalacia	Laryngomalacia
Malignant melanoma of skin	Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb	rs16891982	30429480
Malignant mesothelioma	Malignant mesothelioma		25756049
Mental depression	Mental Depression	rs587778876, rs587778877	19767015
Mood disorder	Mood Disorders		19767015
Multicystic renal dysplasia	Multicystic Dysplastic Kidney
Obsessive-compulsive disorder	Obsessive compulsive behavior
Pulmonary hypertension with hereditary hemorrhagic telangiectasia	Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia		22711276
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior
Syndactyly of fingers	Syndactyly of fingers
Syndactyly of the toes	Syndactyly of the toes
Tracheomalacia	Tracheomalacia

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