OTUD6B (OTU deubiquitinase 6B)

Gene

• Entrez ID: 51633
• Gene name: OTU deubiquitinase 6B
• Gene symbol: OTUD6B
• Synonyms (NCBI Gene): CGI-77, DUBA-5, DUBA5, IDDFSDA
• Disease Acronyms (UniProt): IDDFSDA
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a neg

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150848976	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs368313959	C>T	Pathogenic	Stop gained, coding sequence variant
rs747009288	G>A,C	Pathogenic	Splice donor variant
rs759317757	TTAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064797103	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208012	hsa-miR-1283	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208018	hsa-miR-3125	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT1208023	hsa-miR-3916	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208027	hsa-miR-4499	CLIP-seq
MIRT1208028	hsa-miR-4513	CLIP-seq
MIRT1208029	hsa-miR-4645-3p	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT1208032	hsa-miR-4742-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT1208041	hsa-miR-561	CLIP-seq
MIRT1208042	hsa-miR-583	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT2059766	hsa-miR-1207-5p	CLIP-seq
MIRT2059767	hsa-miR-1271	CLIP-seq
MIRT2059768	hsa-miR-1298	CLIP-seq
MIRT2059769	hsa-miR-135a	CLIP-seq
MIRT2059770	hsa-miR-135b	CLIP-seq
MIRT2059771	hsa-miR-182	CLIP-seq
MIRT2059772	hsa-miR-2054	CLIP-seq
MIRT2059773	hsa-miR-23a	CLIP-seq
MIRT2059774	hsa-miR-23b	CLIP-seq
MIRT2059775	hsa-miR-23c	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059778	hsa-miR-3613-3p	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2059780	hsa-miR-4282	CLIP-seq
MIRT2059781	hsa-miR-4514	CLIP-seq
MIRT2059782	hsa-miR-4692	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2059784	hsa-miR-4736	CLIP-seq
MIRT2059785	hsa-miR-4763-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT2059787	hsa-miR-516a-3p	CLIP-seq
MIRT2059788	hsa-miR-520d-5p	CLIP-seq
MIRT2059789	hsa-miR-524-5p	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT2059793	hsa-miR-96	CLIP-seq
MIRT2288115	hsa-miR-1251	CLIP-seq
MIRT2288116	hsa-miR-1252	CLIP-seq
MIRT2288117	hsa-miR-1323	CLIP-seq
MIRT2288118	hsa-miR-217	CLIP-seq
MIRT2288119	hsa-miR-219-1-3p	CLIP-seq
MIRT2288120	hsa-miR-3122	CLIP-seq
MIRT2288121	hsa-miR-3153	CLIP-seq
MIRT2288122	hsa-miR-3660	CLIP-seq
MIRT2288123	hsa-miR-3913-5p	CLIP-seq
MIRT2288124	hsa-miR-409-5p	CLIP-seq
MIRT2288125	hsa-miR-4261	CLIP-seq
MIRT2288126	hsa-miR-4418	CLIP-seq
MIRT2288127	hsa-miR-4420	CLIP-seq
MIRT2288128	hsa-miR-4470	CLIP-seq
MIRT2288129	hsa-miR-4526	CLIP-seq
MIRT2288130	hsa-miR-4668-5p	CLIP-seq
MIRT2288131	hsa-miR-4698	CLIP-seq
MIRT2288132	hsa-miR-499-3p	CLIP-seq
MIRT2288133	hsa-miR-499a-3p	CLIP-seq
MIRT2288134	hsa-miR-509-3-5p	CLIP-seq
MIRT2288135	hsa-miR-509-5p	CLIP-seq
MIRT2288136	hsa-miR-548o	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2288137	hsa-miR-568	CLIP-seq
MIRT2288138	hsa-miR-571	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IBA	21873635
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IDA	21267069
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008283	Process	Cell population proliferation	IDA	27864334
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	IDA	27864334
GO:0016579	Process	Protein deubiquitination	IBA	21873635
GO:0016579	Process	Protein deubiquitination	IDA	21267069
GO:0016579	Process	Protein deubiquitination	IMP	27864334
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0043248	Process	Proteasome assembly	IMP	28343629

Other IDs

• MIM: 612021
• HGNC: 24281
• e!Ensembl: ENSG00000155100

Protein

• UniProt ID: Q8N6M0
• Protein name: Deubiquitinase OTUD6B (EC 3.4.19.12) (DUBA-5) (OTU domain-containing protein 6B)
• Protein function: [Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02338	OTU	153 → 278	OTU-like cysteine protease	Family

• Sequence:

  MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEME
  QKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIA
  EAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALR
  SQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQT
  PIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS

• Sequence length: 293

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Gross motor development 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
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	rs368313959, rs759317757, rs1064797102, rs1064797103, rs150848976	28343629
Mental retardation	Severe intellectual disability, 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
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
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Associations from Text Mining
Disease Name	Relationship Type	References
Aging Premature	Associate	37110517
Alcohol Related Disorders	Associate	34680978
Breast Neoplasms	Associate	33225954, 35441740, 37110517
Carcinogenesis	Associate	32952848
Carcinoma Non Small Cell Lung	Associate	27864334
Carcinoma Renal Cell	Inhibit	32256450
Carcinoma Renal Cell	Associate	35110537
Cell Transformation Neoplastic	Associate	36052059
Congenital Abnormalities	Associate	32924626
Drug Related Side Effects and Adverse Reactions	Associate	32952848
Edema	Associate	34680978
Epilepsy	Associate	34680978
Esophageal Squamous Cell Carcinoma	Inhibit	37038094
Facial Dysmorphism with Multiple Malformations	Associate	34680978
Fryns syndrome	Associate	34680978
Hypothyroidism	Associate	32924626
Intellectual Disability	Associate	32924626, 34680978, 35430327
Lung Neoplasms	Associate	36052059
Lymphatic Metastasis	Inhibit	32256450
Multiple Myeloma	Associate	36059274
Neoplasms	Inhibit	32256450
Neoplasms	Associate	34440306, 36059274
Neoplasms	Stimulate	36052059
Osteosarcoma	Associate	34440306
Pulmonary Disease Chronic Obstructive	Stimulate	36052059
Scleroderma Systemic	Associate	29179949
Scleroderma Systemic	Inhibit	31156645
Seizures	Associate	32924626
Thyroid Neoplasms	Inhibit	32256450
Urinary Bladder Neoplasms	Associate	32952848
von Hippel Lindau Disease	Associate	35110537
Williams Syndrome	Associate	34680978