HDAC6 (histone deacetylase 6)

Gene

• Entrez ID: 10013
• Gene name: Histone deacetylase 6
• Gene symbol: HDAC6
• Synonyms (NCBI Gene): CPBHM, HD6, JM21, KDAC6, PPP1R90
• Chromosome: X
• Chromosome location: Xp11.23
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017204	hsa-miR-335-5p	Microarray	18185580
MIRT047316	hsa-miR-181a-5p	CLASH	23622248
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	22375943
MIRT438461	hsa-miR-548m	Luciferase reporter assay	24216476
MIRT438461	hsa-miR-548m	Luciferase reporter assay	24216476
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, Western blot	28195408
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, Western blot	28195408
MIRT052981	hsa-miR-22-3p	Western blotting, Immunofluorescence, qRT-PCR	32985730
MIRT052981	hsa-miR-22-3p	Western blotting, qRT-PCR	32985730
MIRT755705	hsa-miR-34a-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence, Flow cytometry	38059122
MIRT1042501	hsa-miR-1	CLIP-seq
MIRT1042502	hsa-miR-1913	CLIP-seq
MIRT1042503	hsa-miR-206	CLIP-seq
MIRT1042504	hsa-miR-22	CLIP-seq
MIRT1042505	hsa-miR-2392	CLIP-seq
MIRT1042506	hsa-miR-3160-3p	CLIP-seq
MIRT1042507	hsa-miR-324-3p	CLIP-seq
MIRT1042508	hsa-miR-3652	CLIP-seq
MIRT1042509	hsa-miR-3673	CLIP-seq
MIRT1042510	hsa-miR-3689a-3p	CLIP-seq
MIRT1042511	hsa-miR-3689c	CLIP-seq
MIRT1042512	hsa-miR-3975	CLIP-seq
MIRT1042513	hsa-miR-4252	CLIP-seq
MIRT1042514	hsa-miR-4260	CLIP-seq
MIRT1042515	hsa-miR-4313	CLIP-seq
MIRT1042516	hsa-miR-4430	CLIP-seq
MIRT1042517	hsa-miR-4438	CLIP-seq
MIRT1042518	hsa-miR-4487	CLIP-seq
MIRT1042519	hsa-miR-4728-5p	CLIP-seq
MIRT1042520	hsa-miR-5095	CLIP-seq
MIRT1042521	hsa-miR-548v	CLIP-seq
MIRT1042522	hsa-miR-556-5p	CLIP-seq
MIRT1042523	hsa-miR-558	CLIP-seq
MIRT1042524	hsa-miR-610	CLIP-seq
MIRT1042525	hsa-miR-613	CLIP-seq
MIRT2009001	hsa-miR-548l	CLIP-seq
MIRT1042502	hsa-miR-1913	CLIP-seq
MIRT1042504	hsa-miR-22	CLIP-seq
MIRT1042506	hsa-miR-3160-3p	CLIP-seq
MIRT1042507	hsa-miR-324-3p	CLIP-seq
MIRT1042513	hsa-miR-4252	CLIP-seq
MIRT1042514	hsa-miR-4260	CLIP-seq
MIRT1042515	hsa-miR-4313	CLIP-seq
MIRT1042518	hsa-miR-4487	CLIP-seq
MIRT1042523	hsa-miR-558	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	11948178
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24413532
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	12535528
GO:0003779	Function	Actin binding	IEA
GO:0004407	Function	Histone deacetylase activity	IDA	10220385
GO:0004407	Function	Histone deacetylase activity	IMP	23322205
GO:0005515	Function	Protein binding	IPI	16919237, 17872950, 18356165, 19033385, 19036992, 19081074, 19167333, 19893491, 20029029, 20308065, 21220424, 21532619, 21847094, 21952047, 22193721, 22645275, 23084749, 24658140, 24687993, 25422469, 27556504, 29281743, 31980649, 32814053
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24687993
GO:0005737	Component	Cytoplasm	ISS	11861901
GO:0005737	Component	Cytoplasm	TAS	19457097
GO:0005771	Component	Multivesicular body	TAS	25548531
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IDA	12620231
GO:0005875	Component	Microtubule associated complex	IDA	19228685
GO:0005901	Component	Caveola	IDA	18356165
GO:0006476	Process	Protein deacetylation	IDA	28516954
GO:0006476	Process	Protein deacetylation	IMP	15916966
GO:0006476	Process	Protein deacetylation	TAS	28386764
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IMP	14675537
GO:0006886	Process	Intracellular protein transport	IMP	16192271
GO:0006914	Process	Autophagy	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0008013	Function	Beta-catenin binding	IPI	18356165
GO:0008017	Function	Microtubule binding	IDA	19228685
GO:0008017	Function	Microtubule binding	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010506	Process	Regulation of autophagy	TAS	25548531
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	12024216
GO:0010727	Process	Negative regulation of hydrogen peroxide metabolic process	IC	18606987
GO:0016234	Component	Inclusion body	IDA	16192271
GO:0016235	Component	Aggresome	IDA	14675537
GO:0016235	Component	Aggresome	TAS	19457097
GO:0016241	Process	Regulation of macroautophagy	IMP	16192271
GO:0016575	Process	Histone deacetylation	IDA	10220385
GO:0016575	Process	Histone deacetylation	ISS	11861901
GO:0019899	Function	Enzyme binding	ISS	11861901
GO:0030286	Component	Dynein complex	IDA	14675537
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0031252	Component	Cell leading edge	IDA	12024216
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IMP	23962722
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	14675537
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	21753002
GO:0031647	Process	Regulation of protein stability	IMP	23580651
GO:0031648	Process	Protein destabilization	IEA
GO:0032041	Function	NAD-dependent histone deacetylase activity (H3-K14 specific)	IEA
GO:0032418	Process	Lysosome localization	IMP	16192271
GO:0032984	Process	Protein-containing complex disassembly	IEA
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	23962722
GO:0033558	Function	Protein deacetylase activity	IDA	28516954
GO:0034983	Process	Peptidyl-lysine deacetylation	IMP	18356165, 18606987, 23962722
GO:0035967	Process	Cellular response to topologically incorrect protein	IMP	16192271
GO:0040029	Process	Regulation of gene expression, epigenetic	IMP	24413532
GO:0042826	Function	Histone deacetylase binding	IPI	12620231
GO:0042903	Function	Tubulin deacetylase activity	IDA	12620231, 19228685, 20308065
GO:0042903	Function	Tubulin deacetylase activity	IMP	19457097
GO:0042903	Function	Tubulin deacetylase activity	ISS
GO:0042903	Function	Tubulin deacetylase activity	TAS	19457097
GO:0043014	Function	Alpha-tubulin binding	IDA	19228685
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043242	Process	Negative regulation of protein-containing complex disassembly	IMP	15916966
GO:0045598	Process	Regulation of fat cell differentiation	IEA
GO:0045861	Process	Negative regulation of proteolysis	IMP	18356165
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS	11861901
GO:0047611	Function	Acetylspermidine deacetylase activity	IDA	28516954
GO:0048156	Function	Tau protein binding	IDA	18636984
GO:0048156	Function	Tau protein binding	ISS	19457097
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048156	Function	Tau protein binding	TAS	19457097
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12024216
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0051354	Process	Negative regulation of oxidoreductase activity	IC	18606987
GO:0051646	Process	Mitochondrion localization	IEA
GO:0051787	Function	Misfolded protein binding	EXP	17785525
GO:0051788	Process	Response to misfolded protein	IMP	14675537
GO:0051879	Function	Hsp90 protein binding	IDA	15916966
GO:0060271	Process	Cilium assembly	TAS
GO:0060632	Process	Regulation of microtubule-based movement	IC	19228685
GO:0060765	Process	Regulation of androgen receptor signaling pathway	TAS	18852123
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0061734	Process	Parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	IGI	20457763
GO:0070201	Process	Regulation of establishment of protein localization	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IMP	18606987
GO:0070840	Function	Dynein complex binding	IDA	14675537
GO:0070842	Process	Aggresome assembly	IMP	14675537
GO:0070845	Process	Polyubiquitinated misfolded protein transport	IMP	14675537
GO:0070846	Process	Hsp90 deacetylation	IEA
GO:0070848	Process	Response to growth factor	IMP	18356165
GO:0070932	Process	Histone H3 deacetylation	IEA
GO:0071218	Process	Cellular response to misfolded protein	IEA
GO:0090042	Process	Tubulin deacetylation	IDA	19228685, 20308065, 23093407
GO:0090042	Process	Tubulin deacetylation	ISS
GO:0090042	Process	Tubulin deacetylation	TAS	28386764
GO:0106047	Process	Polyamine deacetylation	IDA	28516954
GO:0106048	Process	Spermidine deacetylation	IDA	28516954
GO:1901300	Process	Positive regulation of hydrogen peroxide-mediated programmed cell death	IDA	18606987
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	25548531
GO:2000273	Process	Positive regulation of signaling receptor activity	IMP	15916966, 18316616

Other IDs

• MIM: 300272
• HGNC: 14064
• e!Ensembl: ENSG00000094631

Protein

• UniProt ID: Q9UBN7
• Protein name: Protein deacetylase HDAC6 (EC 3.5.1.-) (E3 ubiquitin-protein ligase HDAC6) (EC 2.3.2.-) (Tubulin-lysine deacetylase HDAC6) (EC 3.5.1.-)
• Protein function: Deacetylates a wide range of non-histone substrates (PubMed:12024216, PubMed:18606987, PubMed:20308065, PubMed:24882211, PubMed:26246421, PubMed:30538141, PubMed:31857589, PubMed:30770470, PubMed:38534334, PubMed:39567688). Plays a central role
• PDB: 3C5K, 3GV4, 3PHD, 5B8D, 5EDU, 5KH3, 5KH7, 5KH9, 5WBN, 5WPB, 6CE6, 6CE8, 6CEA, 6CEC, 6CED, 6CEE, 6CEF, 7ZYU, 8G43, 8G44, 8G45
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00850	Hist_deacetyl	105 → 402	Histone deacetylase domain	Domain
  PF00850	Hist_deacetyl	500 → 798	Histone deacetylase domain	Domain
  PF02148	zf-UBP	1133 → 1195	Zn-finger in ubiquitin-hydrolases and other protein	Domain

• Sequence:

  MTSTGQDSTTTRQRRSRQNPQSPPQDSSVTSKRNIKKGAVPRSIPNLAEVKKKGKMKKLG
  QAMEEDLIVGLQGMDLNLEAEALAGTGLVLDEQLNEFHCLWDDSFPEGPERLHAIKEQLI
  QEGLLDRCVSFQARFAEKEELMLVHSLEYIDLMETTQYMNEGELRVLADTYDSVYLHPNS
  YSCACLASGSVLRLVDAVLGAEIRNGMAIIRPPGHHAQHSLMDGYCMFNHVAVAARYAQQ
  KHRIRRVLIVDWDVHHGQGTQFTFDQDPSVLYFSIHRYEQGRFWPHLKASNWSTTGFGQG
  QGYTINVPWNQVGMRDADYIAAFLHVLLPVALEFQPQLVLVAAGFDALQGDPKGEMAATP
  AGFAQLTHLLMGLAGGKLILSLEGGYNLRALAEGVSASLHTLLGDPCPMLESPGAPCRSA
  QASVSCALEALEPFWEVLVRSTETVERDNMEEDNVEESEEEGPWEPPVLPILTWPVLQSR
  TGLVYDQNMMNHCNLWDSHHPEVPQRILRIMCRLEELGLAGRCLTLTPRPATEAELLTCH
  SAEYVGHLRATEKMKTRELHRESSNFDSIYICPSTFACAQLATGAACRLVEAVLSGEVLN
  GAAVVRPPGHHAEQDAACGFCFFNSVAVAARHAQTISGHALRILIVDWDVHHGNGTQHMF
  EDDPSVLYVSLHRYDHGTFFPMGDEGASSQIGRAAGTGFTVNVAWNGPRMGDADYLAAWH
  RLVLPIAYEFNPELVLVSAGFDAARGDPLGGCQVSPEGYAHLTHLLMGLASGRIILILEG
  GYNLTSISESMAACTRSLLGDPPPLLTLPRPPLSGALASITETIQVHRRYWRSLRVMKVE
  DREGPSSSKLVTKKAPQPAKPRLAERMTTREKKVLEAGMGKVTSASFGEESTPGQTNSET
  AVVALTQDQPSEAATGGATLAQTISEAAIGGAMLGQTTSEEAVGGATPDQTTSEETVGGA
  ILDQTTSEDAVGGATLGQTTSEEAVGGATLAQTTSEAAMEGATLDQTTSEEAPGGTELIQ
  TPLASSTDHQTPPTSPVQGTTPQISPSTLIGSLRTLELGSESQGASESQAPGEENLLGEA
  AGGQDMADSMLMQGSRGLTDQAIFYAVTPLPWCPHLVAVCPIPAAGLDVTQPCGDCGTIQ
  ENWVCLSCYQVYCGRYINGHMLQHHGNSGHPLVLSYIDLSAWCYYCQAYVHHQALLDVKN
  IAHQNKFGEDMPHPH

• Sequence length: 1215

Pathways

KEGG:

Neutrophil extracellular trap formation
Amyotrophic lateral sclerosis
Alcoholism
Viral carcinogenesis

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HSF1 activation
Notch-HLH transcription pathway
Cilium Assembly
Transcriptional regulation by RUNX2
Aggrephagy

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Chondrodysplasia, x-linked	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	rs398122390
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, 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	22535842
Mental retardation	Mild Mental Retardation	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
Metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	rs121909500, rs121434597, rs121434598, rs121434600, rs121434602, rs199476103, rs727502774, rs1554651507, rs727502776, rs1554651446, rs727502778, rs1554651469, rs878853178, rs796065036, rs111033544, rs111033545, rs111033546, rs1562122372, rs111033543, rs111033547, rs111033549, rs111033550, rs111033551, rs111033552, rs111033548, rs111033553, rs111033554, rs111033556, rs2114276588, rs140059558, rs369083541, rs786204684, rs1554651506, rs753874439, rs1554651455, rs1085307765, rs1131691804, rs1383432106, rs1554651508, rs1340624774, rs751921616, rs551450545, rs752934195, rs549085067, rs1156413585, rs772443941, rs1554651395, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1230629953, rs1554651481, rs1554651491, rs1554651503, rs1554651532, rs1554651544, rs1554651365, rs1218494857, rs1587919129, rs1554651422, rs1554651428, rs1554651486, rs1554651489, rs1554651526, rs1554651405, rs1554651400, rs1587919165, rs1554651404, rs1554651411, rs1554651461, rs1554651471, rs1554651473, rs1554651505, rs781730798, rs1554651513, rs1554651153, rs759665242, rs1554651368, rs1554651382, rs1554651418, rs1554651413, rs1554651425, rs1554651451, rs1554651453, rs1554651462, rs1554651466, rs920074067, rs1554651499, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs769180471, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs1563907946, rs1563908212, rs1563908167, rs1582811858, rs1554651445
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	19010849
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		19767015, 22328923	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	37990786
Acute Kidney Injury	Associate	36552715
Adenocarcinoma	Associate	29383752
Alexander Disease	Associate	23634874
Alzheimer Disease	Associate	18636984, 32638097, 37990786
Amyotrophic Lateral Sclerosis	Associate	29021520, 32638097, 33891869, 40333935
Anemia Diamond Blackfan	Associate	34036344
Aortic Valve Calcification of	Associate	30579537
Aortic Valve Stenosis	Inhibit	30579537
Arthritis Rheumatoid	Associate	23632129, 27457515
Arthritis Rheumatoid	Inhibit	34732304
Autism Spectrum Disorder	Associate	23169495
Breast Neoplasms	Associate	19383825, 19744931, 28855742, 32044386
Bulbo Spinal Atrophy X Linked	Associate	24925468
Carcinogenesis	Associate	28599312, 32833118, 35955780
Carcinoma Hepatocellular	Associate	23402884, 35977926
Carcinoma Non Small Cell Lung	Associate	26388610, 27499032
Carcinoma Papillary	Stimulate	23873102
Carcinoma Renal Cell	Associate	25313256, 27506904
Carcinoma Renal Cell	Stimulate	28128740
Cataract	Associate	32985730
Charcot Marie Tooth Disease	Associate	34958183
Cholangiocarcinoma	Associate	29406621
Chordoma	Associate	23893747
Colorectal Neoplasms	Associate	28599312, 32711442, 35247921, 36122629, 36270986
Congenital contractural arachnodactyly	Associate	21750953
Death	Associate	30787326
Diffuse Neurofibrillary Tangles with Calcification	Associate	18636984
Drug Related Side Effects and Adverse Reactions	Inhibit	22047054
Drug Related Side Effects and Adverse Reactions	Associate	27369083
Endometrial Neoplasms	Associate	32107418
Epilepsy Familial Mesial Temporal Lobe	Associate	33258018
Epstein Barr Virus Infections	Associate	19386607
Esophageal Neoplasms	Associate	29665050, 30779074, 30961474
Esophageal Squamous Cell Carcinoma	Associate	23621219, 29665050, 30779074
Fibrosis	Associate	32985730
Glioblastoma	Stimulate	26150340
Glioblastoma	Associate	28735518, 32328646, 35757013
Glioma	Associate	20008322, 25791281, 26524593, 32328646, 37528157
Gliosarcoma	Associate	35757013
Glomerulonephritis IGA	Associate	33896334
Heart Diseases	Associate	30622143
Heredodegenerative Disorders Nervous System	Associate	36135988
HTLV I Infections	Associate	16148047
Hypoxia	Associate	30385847, 30787326, 35840042
Hypoxia	Inhibit	35977926
Hypoxia Brain	Associate	29338172
Infections	Inhibit	16148047
Infections	Associate	36516338
Inflammation	Associate	30622143, 32862739, 34732304, 36167345
Inflammatory Breast Neoplasms	Stimulate	26643555
Influenza Human	Inhibit	36516338
Ischemia	Stimulate	36552715
Ischemia	Associate	37429230
Kidney Diseases	Associate	33896334, 36552715, 37429230
Leukemia	Associate	18591380, 21359182, 22047054
Leukemia Lymphocytic Chronic B Cell	Associate	23108383
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	35674911
Leukemia Myeloid Acute	Associate	21359182, 22047054, 22096027, 23167276, 29499113
Lichen Planus Oral	Associate	30329194
Long QT Syndrome	Associate	35840042
Lung Neoplasms	Associate	25946558, 26698121, 27534532, 33162791, 36639650
Lymphoma	Associate	28315173, 32394008
Lymphoma B Cell	Associate	19386607
Lymphoma T Cell Cutaneous	Associate	18671804, 26244872
Melanoma	Associate	21562571, 27502397, 30728070, 37096557
Melanoma	Stimulate	25774669
Mental Disorders	Associate	36902164
Midline granulomatosis	Associate	31989434
Multiple Myeloma	Associate	22384180, 25482492, 25978432, 32350373
Nasopharyngeal Carcinoma	Associate	39174882
Neoplasm Metastasis	Associate	26388610, 27499032, 28599312, 35955780, 36122629
Neoplasm Metastasis	Stimulate	32107418
Neoplasms	Associate	18499657, 21037108, 21847364, 22384180, 23618908, 23873102, 24618845, 25482492, 25774669, 26112958, 26388610, 26502922, 26524593, 27404291, 27499032, 27506904, 27534532, 28599312, 30728070, 30787326, 31989434, 32328646, 33199827, 35955780, 36122629, 36270986, 36595522, 36639650, 37528157
Neoplasms	Stimulate	29665050, 34314149
Neoplasms	Inhibit	35345359
Neoplasms Squamous Cell	Associate	32833118
Neuroblastoma	Associate	21847364, 25482939
Neurodegenerative Diseases	Associate	18636984, 27404291, 32205467, 33694180, 35476995, 40333935
Neuroinflammatory Diseases	Associate	37990786
Osteoarthritis	Inhibit	30385847
Osteoporosis	Inhibit	30385847
Ovarian Neoplasms	Associate	19010849, 30787326, 35955780, 39513923
Pancreatic Neoplasms	Associate	26502922
Parkinson Disease	Associate	32205467
Peritoneal Fibrosis	Associate	32862739
Peritonitis	Stimulate	32862739
Personality Disorders	Associate	32961679
Plaque Amyloid	Associate	37990786
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Associate	24886140
Precancerous Conditions	Associate	30942624
Prostatic Neoplasms	Associate	24023871, 26112958, 29383752, 32264916, 37143720, 40022828
Prostatitis	Associate	26112958
Recombinant chromosome 8 syndrome	Stimulate	28866885
Rett Syndrome	Associate	29730163
Rhabdomyolysis	Associate	36552715
Rhabdomyosarcoma	Associate	33199827
Squamous Cell Carcinoma of Head and Neck	Associate	27369083, 32961679, 35732647
Stomach Neoplasms	Associate	28222070
Stomach Neoplasms	Inhibit	34232196
Systemic carnitine deficiency	Associate	29021520
Thyroid Diseases	Associate	23873102
Thyroid Neoplasms	Associate	31395086
Triple Negative Breast Neoplasms	Associate	33523897, 40288122
Urethral Neoplasms	Associate	24618845
Urinary Bladder Neoplasms	Associate	36810912
Uterine Cervical Neoplasms	Associate	22994762, 29716651, 32833118
Waardenburg Syndrome Type 2D	Associate	34958183