THOC2 (THO complex subunit 2)

Gene

• Entrez ID: 57187
• Gene name: THO complex subunit 2
• Gene symbol: THOC2
• Synonyms (NCBI Gene): AMC7, CXorf3, MRX12, MRX35, THO2, XLID12, dJ506G2.1, hTREX120
• Disease Acronyms (UniProt): AMC7
• Chromosome: X
• Chromosome location: Xq25
• Summary: The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797045018	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045019	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045020	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045021	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1556005930	T>C	Likely-pathogenic	Splice acceptor variant
rs1556014935	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556015437	T>G	Likely-pathogenic	Intron variant
rs1556023928	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556024875	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1603326578	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024250	hsa-miR-218-5p	Sequencing	20371350
MIRT025327	hsa-miR-34a-5p	Proteomics	21566225
MIRT025327	hsa-miR-34a-5p	Proteomics	21566225
MIRT030768	hsa-miR-21-5p	Microarray	18591254
MIRT047168	hsa-miR-183-5p	CLASH	23622248
MIRT036819	hsa-miR-877-3p	CLASH	23622248
MIRT035917	hsa-miR-1180-3p	CLASH	23622248
MIRT698501	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT698500	hsa-miR-641	HITS-CLIP	23313552
MIRT698499	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT698498	hsa-miR-4301	HITS-CLIP	23313552
MIRT698497	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT698496	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698495	hsa-miR-7106-3p	HITS-CLIP	23313552
MIRT698494	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT698493	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT698492	hsa-miR-921	HITS-CLIP	23313552
MIRT698491	hsa-miR-3156-3p	HITS-CLIP	23313552
MIRT698490	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT698501	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT698500	hsa-miR-641	HITS-CLIP	23313552
MIRT698499	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT698498	hsa-miR-4301	HITS-CLIP	23313552
MIRT698497	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT698496	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698495	hsa-miR-7106-3p	HITS-CLIP	23313552
MIRT698494	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT698493	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT698492	hsa-miR-921	HITS-CLIP	23313552
MIRT698491	hsa-miR-3156-3p	HITS-CLIP	23313552
MIRT698490	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT1423429	hsa-miR-539	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT1423431	hsa-miR-580	CLIP-seq
MIRT2126855	hsa-miR-2052	CLIP-seq
MIRT2126856	hsa-miR-4724-5p	CLIP-seq
MIRT2126857	hsa-miR-548a-3p	CLIP-seq
MIRT2126858	hsa-miR-548ac	CLIP-seq
MIRT2126859	hsa-miR-548ae	CLIP-seq
MIRT2126860	hsa-miR-548aj	CLIP-seq
MIRT2126861	hsa-miR-548am	CLIP-seq
MIRT2126862	hsa-miR-548d-3p	CLIP-seq
MIRT2126863	hsa-miR-548e	CLIP-seq
MIRT2126864	hsa-miR-548f	CLIP-seq
MIRT2126865	hsa-miR-548x	CLIP-seq
MIRT2126866	hsa-miR-548z	CLIP-seq
MIRT2126867	hsa-miR-640	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2348682	hsa-miR-607	CLIP-seq
MIRT2641845	hsa-let-7a	CLIP-seq
MIRT2641846	hsa-let-7b	CLIP-seq
MIRT2641847	hsa-let-7c	CLIP-seq
MIRT2641848	hsa-let-7d	CLIP-seq
MIRT2641849	hsa-let-7e	CLIP-seq
MIRT2641850	hsa-let-7f	CLIP-seq
MIRT2641851	hsa-let-7g	CLIP-seq
MIRT2641852	hsa-let-7i	CLIP-seq
MIRT2641853	hsa-miR-101	CLIP-seq
MIRT2641854	hsa-miR-144	CLIP-seq
MIRT2641855	hsa-miR-202	CLIP-seq
MIRT2641856	hsa-miR-3647-3p	CLIP-seq
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT2641857	hsa-miR-3662	CLIP-seq
MIRT2641858	hsa-miR-3668	CLIP-seq
MIRT2641859	hsa-miR-3692	CLIP-seq
MIRT2641860	hsa-miR-3942-5p	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2641861	hsa-miR-4422	CLIP-seq
MIRT2641862	hsa-miR-4458	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT2641863	hsa-miR-4500	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT2641864	hsa-miR-4668-3p	CLIP-seq
MIRT2641865	hsa-miR-4703-5p	CLIP-seq
MIRT2641866	hsa-miR-4717-3p	CLIP-seq
MIRT2641867	hsa-miR-4802-3p	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT2641868	hsa-miR-590-3p	CLIP-seq
MIRT2641869	hsa-miR-98	CLIP-seq
MIRT2641845	hsa-let-7a	CLIP-seq
MIRT2641846	hsa-let-7b	CLIP-seq
MIRT2641847	hsa-let-7c	CLIP-seq
MIRT2641848	hsa-let-7d	CLIP-seq
MIRT2641849	hsa-let-7e	CLIP-seq
MIRT2641850	hsa-let-7f	CLIP-seq
MIRT2641851	hsa-let-7g	CLIP-seq
MIRT2641852	hsa-let-7i	CLIP-seq
MIRT2641853	hsa-miR-101	CLIP-seq
MIRT2641854	hsa-miR-144	CLIP-seq
MIRT2641855	hsa-miR-202	CLIP-seq
MIRT2693126	hsa-miR-3065-5p	CLIP-seq
MIRT2641856	hsa-miR-3647-3p	CLIP-seq
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT2641857	hsa-miR-3662	CLIP-seq
MIRT2641858	hsa-miR-3668	CLIP-seq
MIRT2641859	hsa-miR-3692	CLIP-seq
MIRT2641860	hsa-miR-3942-5p	CLIP-seq
MIRT2693127	hsa-miR-421	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2641861	hsa-miR-4422	CLIP-seq
MIRT2641862	hsa-miR-4458	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT2641863	hsa-miR-4500	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT2641864	hsa-miR-4668-3p	CLIP-seq
MIRT2641865	hsa-miR-4703-5p	CLIP-seq
MIRT2641866	hsa-miR-4717-3p	CLIP-seq
MIRT2641867	hsa-miR-4802-3p	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT2641868	hsa-miR-590-3p	CLIP-seq
MIRT2641869	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000346	Component	Transcription export complex	IDA	15833825, 15998806
GO:0000347	Component	THO complex	IDA	15998806
GO:0000445	Component	THO complex part of transcription export complex	IBA	21873635
GO:0000445	Component	THO complex part of transcription export complex	IDA	15998806
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003729	Function	MRNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15870275, 22928037
GO:0005654	Component	Nucleoplasm	TAS
GO:0006405	Process	RNA export from nucleus	TAS
GO:0006406	Process	MRNA export from nucleus	IBA	21873635
GO:0006406	Process	MRNA export from nucleus	IDA	17190602
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IDA	22928037
GO:0031124	Process	MRNA 3'-end processing	TAS
GO:0046784	Process	Viral mRNA export from host cell nucleus	IDA	18974867
GO:0048666	Process	Neuron development	IMP	26166480
GO:0048699	Process	Generation of neurons	IMP	26166480

Other IDs

• MIM: 300395
• HGNC: 19073
• e!Ensembl: ENSG00000125676

Protein

• UniProt ID: Q8NI27
• Protein name: THO complex subunit 2 (Tho2) (hTREX120)
• Protein function: Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:159988
• PDB: 7APK, 7ZNK, 7ZNL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16134	THOC2_N	8 → 423	THO complex subunit 2 N-terminus	Family
  PF16134	THOC2_N	414 → 566	THO complex subunit 2 N-terminus	Family
  PF11732	Thoc2	568 → 643	Transcription- and export-related complex subunit	Family
  PF11262	Tho2	873 → 1173	Transcription factor/nuclear export subunit protein 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the hippocampus and the cerebral cortex. {ECO:0000269|PubMed:26166480}.
• Sequence:

  MAAAAVVVPAEWIKNWEKSGRGEFLHLCRILSENKSHDSSTYRDFQQALYELSYHVIKGN
  LKHEQASNVLSDISEFREDMPSILADVFCILDIETNCLEEKSKRDYFTQLVLACLYLVSD
  TVLKERLDPETLESLGLIKQSQQFNQKSVKIKTKLFYKQQKFNLLREENEGYAKLIAELG
  QDLSGSITSDLILENIKSLIGCFNLDPNRVLDVILEVFECRPEHDDFFISLLESYMSMCE
  PQTLCHILGFKFKFYQEPNGETPSSLYRVAAVLLQFNLIDLDDLYVHLLPADNCIMDEHK
  REIAEAKQIVRKLTMVVLSSEKMDEREKEKEKEEEKVEKPPDNQKLGLLEALLKIGDWQH
  AQNIMDQMPPYYAASHKLIALAICKLIHITIEPLYRRVGVPKGAKGSPVNALQNKRAPKQ
  AESFEDLRRDVFNMFCYLGPHLSHDPILFAKVVRIGKSFMKEFQSDGSKQEDKEKTEVIL
  SCLLSITDQVLLPSLSLMDCNACMSEELWGMFKTFPYQHRYRLYGQWKNETYNSHPLLVK
  VKAQTIDRAKYIMKRLTKENVKPSGRQIGKLSHSNPTILFDYILSQIQKYDNLITPVVDS
  LKYLTSLNYDVLAYCIIEALANPEKERMKHDDTTISSWLQSLASFCGAVFRKYPIDLAGL
  LQYVANQLKAGKSFDLLILKEVVQKMAGIEITEEMTMEQLEAMTGGEQLKAEGGYFGQIR
  NTKKSSQRLKDALLDHDLALPLCLLMAQQRNGVIFQEGGEKHLKLVGKLYDQCHDTLVQF
  GGFLASNLSTEDYIKRVPSIDVLCNEFHTPHDAAFFLSRPMYAHHISSKYDELKKSEKGS
  KQQHKVHKYITSCEMVMAPVHEAVVSLHVSKVWDDISPQFYATFWSLTMYDLAVPHTSYE
  REVNKLKVQMKAIDDNQEMPPNKKKKEKERCTALQDKLLEEEKKQMEHVQRVLQRLKLEK
  DNWLLAKSTKNETITKFLQLCIFPRCIFSAIDAVYCARFVELVHQQKTPNFSTLLCYDRV
  FSDIIYTVASCTENEASRYGRFLCCMLETVTRWHSDRATYEKECGNYPGFLTILRATGFD
  GGNKADQLDYENFRHVVHKWHYKLTKASVHCLETGEYTHIRNILIVLTKILPWYPKVLNL
  GQALERRVHKICQEEKEKRPDLYALAMGYSGQLKSRKSYMIPENEFHHKDPPPRNAVASV
  QNGPGGGPSSSSIGSASKSDESSTEETDKSRERSQCGVKAVNKASSTTPKGNSSNGNSGS
  NSNKAVKENDKEKGKEKEKEKKEKTPATTPEARVLGKDGKEKPKEERPNKDEKARETKER
  TPKSDKEKEKFKKEEKAKDEKFKTTVPNAESKSTQEREREKEPSRERDIAKEMKSKENVK
  GGEKTPVSGSLKSPVPRSDIPEPEREQKRRKIDTHPSPSHSSTVKDSLIELKESSAKLYI
  NHTPPPLSKSKEREMDKKDLDKSRERSREREKKDEKDRKERKRDHSNNDREVPPDLTKRR
  KEENGTMGVSKHKSESPCESPYPNEKDKEKNKSKSSGKEKGSDSFKSEKMDKISSGGKKE
  SRHDKEKIEKKEKRDSSGGKEEKKHHKSSDKHR

• Sequence length: 1593

Pathways

KEGG:

Nucleocytoplasmic transport
Spliceosome

Reactome:

Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA 3'-end processing
RNA Polymerase II Transcription Termination

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, X-LINKED 35, 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	26166480
Intellectual disability-short stature-overweight syndrome, x-linked	X-linked intellectual disability-short stature-overweight syndrome	rs797045018, rs797045019, rs797045020, rs797045021, rs1556005930, rs1556014935, rs1556015437, rs1556015593, rs1556023928, rs1556024875, rs1603246794, rs1603326578
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Mental retardation, x-linked	MENTAL RETARDATION, X-LINKED 12	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898	26166480, 19377476
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Myocardial infarction	Myocardial Infarction			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	29851191
Cerebral Palsy	Associate	35076175
Cholangiocarcinoma	Associate	32116234
Developmental Disabilities	Associate	35183220
Epilepsy	Associate	26166480, 29851191
Gait Disorders Neurologic	Associate	26166480
Growth Disorders	Associate	29851191
Intellectual Disability	Associate	26166480, 29851191, 34946860, 8825049
Language Development Disorders	Associate	26166480
Melanoma	Associate	31680623
Tremor	Associate	26166480