TAF6 (TATA-box binding protein associated factor 6)

Gene

• Entrez ID: 6878
• Gene name: TATA-box binding protein associated factor 6
• Gene symbol: TAF6
• Synonyms (NCBI Gene): ALYUS, MGC:8964, TAF(II)70, TAF(II)80, TAF2E, TAFII-70, TAFII-80, TAFII70, TAFII80, TAFII85
• Disease Acronyms (UniProt): ALYUS
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs374993554	A>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs727503778	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1131691405	C>T	Likely-pathogenic	Splice donor variant
rs1554387469	C>T	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028133	hsa-miR-93-5p	Sequencing	20371350
MIRT040207	hsa-miR-615-3p	CLASH	23622248
MIRT550110	hsa-miR-3609	PAR-CLIP	21572407
MIRT550109	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT550108	hsa-miR-8060	PAR-CLIP	21572407
MIRT550107	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT550106	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT550110	hsa-miR-3609	PAR-CLIP	21572407
MIRT550109	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT550108	hsa-miR-8060	PAR-CLIP	21572407
MIRT550107	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT550106	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT1409712	hsa-miR-1207-5p	CLIP-seq
MIRT1409713	hsa-miR-147	CLIP-seq
MIRT1409714	hsa-miR-3064-5p	CLIP-seq
MIRT1409715	hsa-miR-3177-5p	CLIP-seq
MIRT1409716	hsa-miR-338-5p	CLIP-seq
MIRT1409717	hsa-miR-346	CLIP-seq
MIRT1409718	hsa-miR-3911	CLIP-seq
MIRT1409719	hsa-miR-4288	CLIP-seq
MIRT1409720	hsa-miR-4492	CLIP-seq
MIRT1409721	hsa-miR-4498	CLIP-seq
MIRT1409722	hsa-miR-4648	CLIP-seq
MIRT1409723	hsa-miR-4654	CLIP-seq
MIRT1409724	hsa-miR-4666-5p	CLIP-seq
MIRT1409725	hsa-miR-4687-3p	CLIP-seq
MIRT1409726	hsa-miR-4718	CLIP-seq
MIRT1409727	hsa-miR-4736	CLIP-seq
MIRT1409728	hsa-miR-4738-3p	CLIP-seq
MIRT1409729	hsa-miR-4763-3p	CLIP-seq
MIRT1409730	hsa-miR-4769-5p	CLIP-seq
MIRT1409731	hsa-miR-548ah	CLIP-seq
MIRT1409732	hsa-miR-632	CLIP-seq
MIRT1409733	hsa-miR-644	CLIP-seq
MIRT1409734	hsa-miR-654-3p	CLIP-seq
MIRT1409735	hsa-miR-762	CLIP-seq
MIRT1409736	hsa-miR-892b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	IEA
GO:0003677	Function	DNA binding	IDA	15601843
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	9045704, 15328371, 15601843, 15899866, 21994455
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IBA	21873635
GO:0005669	Component	Transcription factor TFIID complex	IDA	14580349, 27007846, 29111974
GO:0005829	Component	Cytosol	IDA
GO:0006352	Process	DNA-templated transcription, initiation	IDA	9603525
GO:0006366	Process	Transcription by RNA polymerase II	NAS	7667268
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	IDA	9603525, 15328371
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA	21873635
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	15328371
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	9603525
GO:0016573	Process	Histone acetylation	IBA	21873635
GO:0017162	Function	Aryl hydrocarbon receptor binding	IPI	15641800
GO:0032991	Component	Protein-containing complex	IMP	15641800
GO:0033276	Component	Transcription factor TFTC complex	IDA	9603525
GO:0042795	Process	SnRNA transcription by RNA polymerase II	TAS
GO:0045786	Process	Negative regulation of cell cycle	IDA	15328371
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0046695	Component	SLIK (SAGA-like) complex	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 602955
• HGNC: 11540
• e!Ensembl: ENSG00000106290

Protein

• UniProt ID: P49848
• Protein name: Transcription initiation factor TFIID subunit 6 (RNA polymerase II TBP-associated factor subunit E) (Transcription initiation factor TFIID 70 kDa subunit) (TAF(II)70) (TAFII-70) (TAFII70) (Transcription initiation factor TFIID 80 kDa subunit) (TAF(II)80)
• Protein function: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TAT
• PDB: 5FUR, 6F3T, 6MZC, 6MZD, 6MZL, 6MZM, 7EDX, 7EG7, 7EG8, 7EG9, 7EGA, 7EGB, 7EGC, 7EGD, 7EGE, 7EGF, 7EGG, 7EGH, 7EGI, 7EGJ, 7ENA, 7ENC, 8GXQ, 8GXS, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ, 8WAR, 8WAS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02969	TAF	11 → 76	TATA box binding protein associated factor (TAF)	Domain
  PF07571	TAF6_C	308 → 397	TAF6 C-terminal HEAT repeat domain	Family

• Sequence:

  MAEEKKLKLSNTVLPSESMKVVAESMGIAQIQEETCQLLTDEVSYRIKEIAQDALKFMHM
  GKRQKLTTSDIDYALKLKNVEPLYGFHAQEFIPFRFASGGGRELYFYEEKEVDLSDIINT
  PLPRVPLDVCLKAHWLSIEGCQPAIPENPPPAPKEQQKAEATEPLKSAKPGQEEDGPLKG
  KGQGATTADGKGKEKKAPPLLEGAPLRLKPRSIHELSVEQQLYYKEITEACVGSCEAKRA
  EALQSIATDPGLYQMLPRFSTFISEGVRVNVVQNNLALLIYLMRMVKALMDNPTLYLEKY
  VHELIPAVMTCIVSRQLCLRPDVDNHWALRDFAARLVAQICKHFSTTTNNIQSRITKTFT
  KSWVDEKTPWTTRYGSIAGLAELGHDVIKTLILPRLQQEGERIRSVLDGPVLSNIDRIGA
  DHVQSLLLKHCAPVLAKLRPPPDNQDAYRAEFGSLGPLLCSQVVKARAQAALQAQQVNRT
  TLTITQPRPTLTLSQAPQPGPRTPGLLKVPGSIALPVQTLVSARAAAPPQPSPPPTKFIV
  MSSSSSAPSTQQVLSLSTSAPGSGSTTTSPVTTTVPSVQPIVKLVSTATTAPPSTAPSGP
  GSVQKYIVVSLPPTGEGKGGPTSHPSPVPPPASSPSPLSGSALCGGKQEAGDSPPPAPGT
  PKANGSQPNSGSPQPAP

• Sequence length: 677

Pathways

KEGG:

Basal transcription factors

Reactome:

RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA polymerase II transcribes snRNA genes
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alazami-yuan syndrome	ALAZAMI-YUAN SYNDROME	rs374993554, rs727503778	25558065, 25574841
Cornelia de lange syndrome	Cornelia de Lange Syndrome 1	rs121918264, rs121918265, rs1554011042, rs1561222491, rs1554016981, rs121918266, rs121918267, rs121918268, rs1561231553, rs121918269, rs724159980, rs863223279, rs387907212, rs398122888, rs397515415, rs397515416, rs397515417, rs397515418, rs587779380, rs398124465, rs398124466, rs80358362, rs398124471, rs398124474, rs80358367, rs80358382, rs80358364, rs80358374, rs80358386, rs80358369, rs80358372, rs80358366, rs80358373, rs80358360, rs80358363, rs80358361, rs80358376, rs80358384, rs80358370, rs80358368, rs80358371, rs587783937, rs587784009, rs587784010, rs587784012, rs587784060, rs587783886, rs587783893, rs587783895, rs587783917, rs587783922, rs587783927, rs587783928, rs587783951, rs587783988, rs587783993, rs587784048, rs587784049, rs587784059, rs587784062, rs587784063, rs587784065, rs587783877, rs587783878, rs587783879, rs587783880, rs587783882, rs587783883, rs587783884, rs587783887, rs587783888, rs587783889, rs587783891, rs587783892, rs587783894, rs587783896, rs587783897, rs587783899, rs587783901, rs587783902, rs587783905, rs587783906, rs587783907, rs587783909, rs587783910, rs587783911, rs587783912, rs587783914, rs587783918, rs80358356, rs80358375, rs587783919, rs587783921, rs587783923, rs587783925, rs587783926, rs587783930, rs587783931, rs587783932, rs587783933, rs587783934, rs587783936, rs587783938, rs587783939, rs587783940, rs587783941, rs587783942, rs587783944, rs587783945, rs587783947, rs587783950, rs587783952, rs587783953, rs587783954, rs587783955, rs587783957, rs77632238, rs587783959, rs587783960, rs587783961, rs587783966, rs587783967, rs587783968, rs587783969, rs587783971, rs587783972, rs587783973, rs587783974, rs587783975, rs587783977, rs62654864, rs587783979, rs587783980, rs587783982, rs587783984, rs587783985, rs587783986, rs587783987, rs587783994, rs587783997, rs587783998, rs587784000, rs587784002, rs587784003, rs587784004, rs587784005, rs587784007, rs587784008, rs587784013, rs587784015, rs587784016, rs587784017, rs587784019, rs587784020, rs587784021, rs587784022, rs587784024, rs587784025, rs587784026, rs587784027, rs587784029, rs587784030, rs587784032, rs587784033, rs587784034, rs587784035, rs587784036, rs587784037, rs587784038, rs587784039, rs587784040, rs587784043, rs587784047, rs587784050, rs587784052, rs587784053, rs587784055, rs587784056, rs587784429, rs587784425, rs587784427, rs587783663, rs727503768, rs727503770, rs727503767, rs727503766, rs727503769, rs730880331, rs727503772, rs727503771, rs727503778, rs727503777, rs797044861, rs797045070, rs797045749, rs797045753, rs797045755, rs797045763, rs797045745, rs797045746, rs797045747, rs797045748, rs797045750, rs797045751, rs797045752, rs797045754, rs797045756, rs797045757, rs797045758, rs797045760, rs797045761, rs797045762, rs797045764, rs797045766, rs797045767, rs797045768, rs797045769, rs797045770, rs797045771, rs797045772, rs797045773, rs797045775, rs797045776, rs797045778, rs797045779, rs797045780, rs797045783, rs797045784, rs797045785, rs797045786, rs797045787, rs797045788, rs797045789, rs797045909, rs797045908, rs797045907, rs797045997, rs797045613, rs797045612, rs797045611, rs797045610, rs863224910, rs863224877, rs863225258, rs863225259, rs863225260, rs863225261, rs869312660, rs869312672, rs886041810, rs886041239, rs886041936, rs886041838, rs886042231, rs1057516034, rs1057516037, rs1057518944, rs1057518727, rs1057520375, rs1555948969, rs1554017345, rs1554017661, rs1554019663, rs1554020997, rs1554031864, rs1554032085, rs1554612096, rs776056911, rs146015223, rs1554032789, rs1554014382, rs1554011046, rs1554019698, rs1554030233, rs1554035311, rs1554017441, rs1554025675, rs1554030285, rs1554019667, rs1554015145, rs1554023967, rs1555949010, rs1554015303, rs1561083229, rs1561164598, rs1561207924, rs1563687901, rs1563689416, rs1564792181, rs1564794233, rs1569316085, rs1569318004, rs1556009247, rs1554025780, rs1554019712, rs1554032954, rs1554017175, rs1554035266, rs1563686762, rs1556165162, rs1554025252, rs1554025796, rs1554020579, rs1554612093, rs1569317995, rs1561102868, rs1561145912, rs1561222738, rs1561169166, rs1561214997, rs1564789897, rs1563688680, rs1590556722, rs866740147, rs1580396071, rs1580425629, rs1580436698, rs1580451470, rs751902505, rs1579570362, rs1590563617, rs1580323183, rs1580373035, rs1602975455, rs1580396767, rs1602491207, rs748876063, rs1590572104, rs1602975122, rs1580323151, rs1579557913, rs1586275911, rs1590556378, rs1602975601, rs1586268625, rs1586276006, rs748575266, rs1580394197, rs1590571077, rs1741183871, rs1748964402, rs1749739420, rs1754396332, rs1754603855, rs1755082448, rs1755224830, rs1812515682, rs1740652803, rs2051897517, rs1861074646, rs1812331711, rs1352385210, rs1812376090, rs2047965357, rs1740845459
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	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	25574841
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
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Unknown
Disease term	Disease name	Evidence	References	Source
Alazami-Yuan Syndrome	Alazami-Yuan syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Congenital Abnormalities	Associate	36849876
De Lange Syndrome	Associate	25574841
Developmental Disabilities	Associate	36849876
Genetic Diseases Inborn	Associate	25574841
Neoplasms	Associate	18628956