TAF2 (TATA-box binding protein associated factor 2)

Gene

• Entrez ID: 6873
• Gene name: TATA-box binding protein associated factor 2
• Gene symbol: TAF2
• Synonyms (NCBI Gene): CIF150, MRT40, TAF2B, TAFII150
• Chromosome: 8
• Chromosome location: 8q24.12
• 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
rs398124645	A>G	Pathogenic	Coding sequence variant, missense variant
rs750451843	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025140	hsa-miR-181a-5p	Microarray	17612493
MIRT224088	hsa-miR-4803	HITS-CLIP	19536157
MIRT722012	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT722011	hsa-miR-3148	HITS-CLIP	19536157
MIRT722010	hsa-miR-1206	HITS-CLIP	19536157
MIRT722009	hsa-miR-6853-3p	HITS-CLIP	19536157
MIRT722008	hsa-miR-6844	HITS-CLIP	19536157
MIRT722007	hsa-miR-375	HITS-CLIP	19536157
MIRT722006	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT224088	hsa-miR-4803	HITS-CLIP	19536157
MIRT722012	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT722011	hsa-miR-3148	HITS-CLIP	19536157
MIRT722010	hsa-miR-1206	HITS-CLIP	19536157
MIRT722009	hsa-miR-6853-3p	HITS-CLIP	19536157
MIRT722008	hsa-miR-6844	HITS-CLIP	19536157
MIRT722007	hsa-miR-375	HITS-CLIP	19536157
MIRT722006	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT1409285	hsa-miR-105	CLIP-seq
MIRT1409286	hsa-miR-1183	CLIP-seq
MIRT1409287	hsa-miR-1244	CLIP-seq
MIRT1409288	hsa-miR-1270	CLIP-seq
MIRT1409289	hsa-miR-1271	CLIP-seq
MIRT1409290	hsa-miR-1273g	CLIP-seq
MIRT1409291	hsa-miR-1278	CLIP-seq
MIRT1409292	hsa-miR-1322	CLIP-seq
MIRT1409293	hsa-miR-140-3p	CLIP-seq
MIRT1409294	hsa-miR-140-5p	CLIP-seq
MIRT1409295	hsa-miR-144	CLIP-seq
MIRT1409296	hsa-miR-182	CLIP-seq
MIRT1409297	hsa-miR-199a-3p	CLIP-seq
MIRT1409298	hsa-miR-199b-3p	CLIP-seq
MIRT1409299	hsa-miR-2052	CLIP-seq
MIRT1409300	hsa-miR-2110	CLIP-seq
MIRT1409301	hsa-miR-27a	CLIP-seq
MIRT1409302	hsa-miR-27b	CLIP-seq
MIRT1409303	hsa-miR-300	CLIP-seq
MIRT1409304	hsa-miR-3129-5p	CLIP-seq
MIRT1409305	hsa-miR-3137	CLIP-seq
MIRT1409306	hsa-miR-3150a-3p	CLIP-seq
MIRT1409307	hsa-miR-3175	CLIP-seq
MIRT1409308	hsa-miR-3194-3p	CLIP-seq
MIRT1409309	hsa-miR-3199	CLIP-seq
MIRT1409310	hsa-miR-338-5p	CLIP-seq
MIRT1409311	hsa-miR-34a	CLIP-seq
MIRT1409312	hsa-miR-34c-5p	CLIP-seq
MIRT1409313	hsa-miR-3545-5p	CLIP-seq
MIRT1409314	hsa-miR-3646	CLIP-seq
MIRT1409315	hsa-miR-3686	CLIP-seq
MIRT1409316	hsa-miR-381	CLIP-seq
MIRT1409317	hsa-miR-3978	CLIP-seq
MIRT1409318	hsa-miR-4252	CLIP-seq
MIRT1409319	hsa-miR-4260	CLIP-seq
MIRT1409320	hsa-miR-4261	CLIP-seq
MIRT1409321	hsa-miR-4420	CLIP-seq
MIRT1409322	hsa-miR-4452	CLIP-seq
MIRT1409323	hsa-miR-4460	CLIP-seq
MIRT1409324	hsa-miR-449a	CLIP-seq
MIRT1409325	hsa-miR-449b	CLIP-seq
MIRT1409326	hsa-miR-4643	CLIP-seq
MIRT1409327	hsa-miR-4652-3p	CLIP-seq
MIRT1409328	hsa-miR-4652-5p	CLIP-seq
MIRT1409329	hsa-miR-466	CLIP-seq
MIRT1409330	hsa-miR-4666-3p	CLIP-seq
MIRT1409331	hsa-miR-4683	CLIP-seq
MIRT1409332	hsa-miR-4694-5p	CLIP-seq
MIRT1409333	hsa-miR-4717-3p	CLIP-seq
MIRT1409334	hsa-miR-4730	CLIP-seq
MIRT1409335	hsa-miR-4775	CLIP-seq
MIRT1409336	hsa-miR-4786-5p	CLIP-seq
MIRT1409337	hsa-miR-4789-3p	CLIP-seq
MIRT1409338	hsa-miR-4789-5p	CLIP-seq
MIRT1409339	hsa-miR-4802-3p	CLIP-seq
MIRT1409340	hsa-miR-511	CLIP-seq
MIRT1409341	hsa-miR-513a-5p	CLIP-seq
MIRT1409342	hsa-miR-522	CLIP-seq
MIRT1409343	hsa-miR-590-3p	CLIP-seq
MIRT1409344	hsa-miR-591	CLIP-seq
MIRT1409345	hsa-miR-620	CLIP-seq
MIRT1409346	hsa-miR-767-5p	CLIP-seq
MIRT1409347	hsa-miR-936	CLIP-seq
MIRT1409348	hsa-miR-939	CLIP-seq
MIRT1409349	hsa-miR-96	CLIP-seq
MIRT1409297	hsa-miR-199a-3p	CLIP-seq
MIRT1409298	hsa-miR-199b-3p	CLIP-seq
MIRT1409301	hsa-miR-27a	CLIP-seq
MIRT1409302	hsa-miR-27b	CLIP-seq
MIRT1409304	hsa-miR-3129-5p	CLIP-seq
MIRT2122746	hsa-miR-412	CLIP-seq
MIRT2122747	hsa-miR-4503	CLIP-seq
MIRT1409341	hsa-miR-513a-5p	CLIP-seq
MIRT2122748	hsa-miR-548p	CLIP-seq
MIRT1409347	hsa-miR-936	CLIP-seq
MIRT1409288	hsa-miR-1270	CLIP-seq
MIRT1409289	hsa-miR-1271	CLIP-seq
MIRT1409290	hsa-miR-1273g	CLIP-seq
MIRT2345126	hsa-miR-1283	CLIP-seq
MIRT2345127	hsa-miR-1288	CLIP-seq
MIRT2345128	hsa-miR-1297	CLIP-seq
MIRT2345129	hsa-miR-1303	CLIP-seq
MIRT1409293	hsa-miR-140-3p	CLIP-seq
MIRT1409294	hsa-miR-140-5p	CLIP-seq
MIRT2345130	hsa-miR-181a	CLIP-seq
MIRT2345131	hsa-miR-181b	CLIP-seq
MIRT2345132	hsa-miR-181c	CLIP-seq
MIRT2345133	hsa-miR-181d	CLIP-seq
MIRT1409296	hsa-miR-182	CLIP-seq
MIRT2345134	hsa-miR-26a	CLIP-seq
MIRT2345135	hsa-miR-26b	CLIP-seq
MIRT1409301	hsa-miR-27a	CLIP-seq
MIRT1409302	hsa-miR-27b	CLIP-seq
MIRT2345136	hsa-miR-3161	CLIP-seq
MIRT2345137	hsa-miR-3182	CLIP-seq
MIRT1409309	hsa-miR-3199	CLIP-seq
MIRT2345138	hsa-miR-3201	CLIP-seq
MIRT1409311	hsa-miR-34a	CLIP-seq
MIRT1409312	hsa-miR-34c-5p	CLIP-seq
MIRT1409313	hsa-miR-3545-5p	CLIP-seq
MIRT2345139	hsa-miR-3681	CLIP-seq
MIRT2345140	hsa-miR-374a	CLIP-seq
MIRT2345141	hsa-miR-374b	CLIP-seq
MIRT2345142	hsa-miR-3936	CLIP-seq
MIRT2345143	hsa-miR-3977	CLIP-seq
MIRT2122746	hsa-miR-412	CLIP-seq
MIRT2345144	hsa-miR-4262	CLIP-seq
MIRT2345145	hsa-miR-4263	CLIP-seq
MIRT1409323	hsa-miR-4460	CLIP-seq
MIRT2345146	hsa-miR-4465	CLIP-seq
MIRT1409324	hsa-miR-449a	CLIP-seq
MIRT1409325	hsa-miR-449b	CLIP-seq
MIRT2122747	hsa-miR-4503	CLIP-seq
MIRT1409328	hsa-miR-4652-5p	CLIP-seq
MIRT1409331	hsa-miR-4683	CLIP-seq
MIRT1409333	hsa-miR-4717-3p	CLIP-seq
MIRT2345147	hsa-miR-4791	CLIP-seq
MIRT1409339	hsa-miR-4802-3p	CLIP-seq
MIRT1409341	hsa-miR-513a-5p	CLIP-seq
MIRT2122748	hsa-miR-548p	CLIP-seq
MIRT2345148	hsa-miR-576-5p	CLIP-seq
MIRT1409345	hsa-miR-620	CLIP-seq
MIRT1409346	hsa-miR-767-5p	CLIP-seq
MIRT2345149	hsa-miR-877	CLIP-seq
MIRT1409349	hsa-miR-96	CLIP-seq
MIRT2345126	hsa-miR-1283	CLIP-seq
MIRT1409299	hsa-miR-2052	CLIP-seq
MIRT1409300	hsa-miR-2110	CLIP-seq
MIRT2638180	hsa-miR-3119	CLIP-seq
MIRT1409306	hsa-miR-3150a-3p	CLIP-seq
MIRT2638181	hsa-miR-3158-3p	CLIP-seq
MIRT1409307	hsa-miR-3175	CLIP-seq
MIRT1409308	hsa-miR-3194-3p	CLIP-seq
MIRT2345138	hsa-miR-3201	CLIP-seq
MIRT2638182	hsa-miR-3616-3p	CLIP-seq
MIRT2345139	hsa-miR-3681	CLIP-seq
MIRT2638183	hsa-miR-3685	CLIP-seq
MIRT2638184	hsa-miR-384	CLIP-seq
MIRT1409319	hsa-miR-4260	CLIP-seq
MIRT1409320	hsa-miR-4261	CLIP-seq
MIRT2638185	hsa-miR-4496	CLIP-seq
MIRT2638186	hsa-miR-4721	CLIP-seq
MIRT2345147	hsa-miR-4791	CLIP-seq
MIRT2638187	hsa-miR-488	CLIP-seq
MIRT1409348	hsa-miR-939	CLIP-seq
MIRT2345126	hsa-miR-1283	CLIP-seq
MIRT1409299	hsa-miR-2052	CLIP-seq
MIRT1409300	hsa-miR-2110	CLIP-seq
MIRT2638180	hsa-miR-3119	CLIP-seq
MIRT1409306	hsa-miR-3150a-3p	CLIP-seq
MIRT2638181	hsa-miR-3158-3p	CLIP-seq
MIRT1409307	hsa-miR-3175	CLIP-seq
MIRT1409308	hsa-miR-3194-3p	CLIP-seq
MIRT2345138	hsa-miR-3201	CLIP-seq
MIRT2638182	hsa-miR-3616-3p	CLIP-seq
MIRT2345139	hsa-miR-3681	CLIP-seq
MIRT1409319	hsa-miR-4260	CLIP-seq
MIRT1409320	hsa-miR-4261	CLIP-seq
MIRT2638185	hsa-miR-4496	CLIP-seq
MIRT2638186	hsa-miR-4721	CLIP-seq
MIRT2345147	hsa-miR-4791	CLIP-seq
MIRT2638187	hsa-miR-488	CLIP-seq
MIRT1409348	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	10409744
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IMP	10409744
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	9418870, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IBA	21873635
GO:0005669	Component	Transcription factor TFIID complex	IDA	9774672, 10409744, 14580349, 27007846, 29111974
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	9418870
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	IMP	10409744
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0014070	Process	Response to organic cyclic compound	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	IC	29111974
GO:0033276	Component	Transcription factor TFTC complex	IDA	10373431
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 604912
• HGNC: 11536
• e!Ensembl: ENSG00000064313

Protein

• UniProt ID: Q6P1X5
• Protein name: Transcription initiation factor TFIID subunit 2 (150 kDa cofactor of initiator function) (RNA polymerase II TBP-associated factor subunit B) (TBP-associated factor 150 kDa) (Transcription initiation factor TFIID 150 kDa subunit) (TAF(II)150) (TAFII-150) (
• 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, 6MZC, 6MZL, 6MZM, 7EDX, 7EG7, 7EG8, 7EG9, 7EGA, 7EGB, 7EGC, 7EGD, 7EGE, 7EGH, 7EGI, 7EGJ, 7ENA, 7ENC, 8GXQ, 8GXS, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ, 8WAR, 8WAS
• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested. {ECO:0000269|PubMed:9774672}.
• Sequence:

  MPLTGVEPARMNRKKGDKGFESPRPYKLTHQVVCINNINFQRKSVVGFVELTIFPTVANL
  NRIKLNSKQCRIYRVRINDLEAAFIYNDPTLEVCHSESKQRNLNYFSNAYAAAVSAVDPD
  AGNGELCIKVPSELWKHVDELKVLKIHINFSLDQPKGGLHFVVPSVEGSMAERGAHVFSC
  GYQNSTRFWFPCVDSYSELCTWKLEFTVDAAMVAVSNGDLVETVYTHDMRKKTFHYMLTI
  PTAASNISLAIGPFEILVDPYMHEVTHFCLPQLLPLLKHTTSYLHEVFEFYEEILTCRYP
  YSCFKTVFIDEAYVEVAAYASMSIFSTNLLHSAMIIDETPLTRRCLAQSLAQQFFGCFIS
  RMSWSDEWVLKGISGYIYGLWMKKTFGVNEYRHWIKEELDKIVAYELKTGGVLLHPIFGG
  GKEKDNPASHLHFSIKHPHTLSWEYYSMFQCKAHLVMRLIENRISMEFMLQVFNKLLSLA
  STASSQKFQSHMWSQMLVSTSGFLKSISNVSGKDIQPLIKQWVDQSGVVKFYGSFAFNRK
  RNVLELEIKQDYTSPGTQKYVGPLKVTVQELDGSFNHTLQIEENSLKHDIPCHSKSRRNK
  KKKIPLMNGEEVDMDLSAMDADSPLLWIRIDPDMSVLRKVEFEQADFMWQYQLRYERDVV
  AQQESILALEKFPTPASRLALTDILEQEQCFYRVRMSACFCLAKIANSMVSTWTGPPAMK
  SLFTRMFCCKSCPNIVKTNNFMSFQSYFLQKTMPVAMALLRDVHNLCPKEVLTFILDLIK
  YNDNRKNKFSDNYYRAEMIDALANSVTPAVSVNNEVRTLDNLNPDVRLILEEITRFLNME
  KLLPSYRHTITVSCLRAIRVLQKNGHVPSDPALFKSYAEYGHFVDIRIAALEAVVDYTKV
  DRSYEELQWLLNMIQNDPVPYVRHKILNMLTKNPPFTKNMESPLCNEALVDQLWKLMNSG
  TSHDWRLRCGAVDLYFTLFGLSRPSCLPLPELGLVLNLKEKKAVLNPTIIPESVAGNQEA
  ANNPSSHPQLVGFQNPFSSSQDEEEIDMDTVHDSQAFISHHLNMLERPSTPGLSKYRPAS
  SRSALIPQHSAGCDSTPTTKPQWSLELARKGTGKEQAPLEMSMHPAASAPLSVFTKESTA
  SKHSDHHHHHHHEHKKKKKKHKHKHKHKHKHDSKEKDKEPFTFSSPASGRSIRSPSLSD

• Sequence length: 1199

Pathways

KEGG:

Basal transcription factors

Reactome:

RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
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
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	Profound Mental Retardation, Mental deficiency, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40	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	21937992, 26350204, 24084144
Microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome	rs398124645

Unknown
Disease term	Disease name	Evidence	References	Source
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	microcephaly-thin corpus callosum-intellectual disability syndrome			GenCC