GTF3C3 (general transcription factor IIIC subunit 3)

Gene

• Entrez ID: 9330
• Gene name: General transcription factor IIIC subunit 3
• Gene symbol: GTF3C3
• Synonyms (NCBI Gene): NEDFBS, TFIIIC102, TFIIICgamma, TFiiiC2-102
• Chromosome: 2
• Chromosome location: 2q33.1
• Summary: The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encod

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025544	hsa-miR-34a-5p	Proteomics	21566225
MIRT031970	hsa-miR-16-5p	Proteomics	18668040
MIRT047868	hsa-miR-30c-5p	CLASH	23622248
MIRT042107	hsa-miR-484	CLASH	23622248
MIRT649535	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT649533	hsa-miR-1321	HITS-CLIP	23824327
MIRT649532	hsa-miR-4739	HITS-CLIP	23824327
MIRT649531	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT649530	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT649529	hsa-miR-29b-1-5p	HITS-CLIP	23824327
MIRT649528	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT649527	hsa-miR-623	HITS-CLIP	23824327
MIRT649526	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT649525	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT649524	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT649523	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT649522	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT649535	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT649533	hsa-miR-1321	HITS-CLIP	23824327
MIRT649532	hsa-miR-4739	HITS-CLIP	23824327
MIRT649531	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT649530	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT649529	hsa-miR-29b-1-5p	HITS-CLIP	23824327
MIRT649528	hsa-miR-3162-5p	HITS-CLIP	23824327
MIRT649527	hsa-miR-623	HITS-CLIP	23824327
MIRT649526	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT649525	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT649524	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT649523	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT649522	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT1037692	hsa-miR-101	CLIP-seq
MIRT1037693	hsa-miR-144	CLIP-seq
MIRT1037694	hsa-miR-3692	CLIP-seq
MIRT1037695	hsa-miR-369-3p	CLIP-seq
MIRT1037696	hsa-miR-374a	CLIP-seq
MIRT1037697	hsa-miR-374b	CLIP-seq
MIRT1037698	hsa-miR-4731-3p	CLIP-seq
MIRT1037699	hsa-miR-4801	CLIP-seq
MIRT1037700	hsa-miR-936	CLIP-seq
MIRT1549419	hsa-miR-3150a-5p	CLIP-seq
MIRT1549420	hsa-miR-3150b-5p	CLIP-seq
MIRT1549421	hsa-miR-340	CLIP-seq
MIRT1549422	hsa-miR-4275	CLIP-seq
MIRT1549423	hsa-miR-494	CLIP-seq
MIRT1037692	hsa-miR-101	CLIP-seq
MIRT2007578	hsa-miR-1183	CLIP-seq
MIRT2007579	hsa-miR-1273d	CLIP-seq
MIRT1037693	hsa-miR-144	CLIP-seq
MIRT2007580	hsa-miR-1587	CLIP-seq
MIRT2007581	hsa-miR-2113	CLIP-seq
MIRT2007582	hsa-miR-3177-5p	CLIP-seq
MIRT2007583	hsa-miR-4264	CLIP-seq
MIRT2007584	hsa-miR-4455	CLIP-seq
MIRT2007585	hsa-miR-4492	CLIP-seq
MIRT2007586	hsa-miR-4498	CLIP-seq
MIRT2007587	hsa-miR-4505	CLIP-seq
MIRT2007588	hsa-miR-4637	CLIP-seq
MIRT2007589	hsa-miR-4656	CLIP-seq
MIRT2007590	hsa-miR-4674	CLIP-seq
MIRT2007591	hsa-miR-4675	CLIP-seq
MIRT2007592	hsa-miR-4693-5p	CLIP-seq
MIRT2007593	hsa-miR-4694-5p	CLIP-seq
MIRT2007594	hsa-miR-4741	CLIP-seq
MIRT2007595	hsa-miR-4777-3p	CLIP-seq
MIRT2007596	hsa-miR-4797-3p	CLIP-seq
MIRT2007597	hsa-miR-548ae	CLIP-seq
MIRT2007598	hsa-miR-548aj	CLIP-seq
MIRT2007599	hsa-miR-548am	CLIP-seq
MIRT2007600	hsa-miR-548x	CLIP-seq
MIRT2007601	hsa-miR-561	CLIP-seq
MIRT2007602	hsa-miR-599	CLIP-seq
MIRT2007603	hsa-miR-609	CLIP-seq
MIRT2007604	hsa-miR-762	CLIP-seq
MIRT2007605	hsa-miR-935	CLIP-seq
MIRT1037700	hsa-miR-936	CLIP-seq
MIRT2240205	hsa-miR-3662	CLIP-seq
MIRT2240206	hsa-miR-488	CLIP-seq
MIRT2437515	hsa-miR-2117	CLIP-seq
MIRT2437516	hsa-miR-22	CLIP-seq
MIRT2437517	hsa-miR-3194-3p	CLIP-seq
MIRT2437518	hsa-miR-377	CLIP-seq
MIRT2007583	hsa-miR-4264	CLIP-seq
MIRT2437519	hsa-miR-4273	CLIP-seq
MIRT2437520	hsa-miR-4746-3p	CLIP-seq
MIRT2437521	hsa-miR-4769-3p	CLIP-seq
MIRT2007596	hsa-miR-4797-3p	CLIP-seq
MIRT2437522	hsa-miR-646	CLIP-seq
MIRT2543864	hsa-miR-1276	CLIP-seq
MIRT2543865	hsa-miR-1292	CLIP-seq
MIRT2543866	hsa-miR-1305	CLIP-seq
MIRT2437515	hsa-miR-2117	CLIP-seq
MIRT2437516	hsa-miR-22	CLIP-seq
MIRT2543867	hsa-miR-3124-3p	CLIP-seq
MIRT2543868	hsa-miR-3156-3p	CLIP-seq
MIRT2437517	hsa-miR-3194-3p	CLIP-seq
MIRT2437518	hsa-miR-377	CLIP-seq
MIRT2543869	hsa-miR-3913-3p	CLIP-seq
MIRT2543870	hsa-miR-421	CLIP-seq
MIRT2007583	hsa-miR-4264	CLIP-seq
MIRT2437519	hsa-miR-4273	CLIP-seq
MIRT2543871	hsa-miR-4301	CLIP-seq
MIRT2543872	hsa-miR-4311	CLIP-seq
MIRT2543873	hsa-miR-4471	CLIP-seq
MIRT2437521	hsa-miR-4769-3p	CLIP-seq
MIRT2007596	hsa-miR-4797-3p	CLIP-seq
MIRT2543874	hsa-miR-489	CLIP-seq
MIRT2543875	hsa-miR-511	CLIP-seq
MIRT2543876	hsa-miR-583	CLIP-seq
MIRT2437522	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000127	Component	Transcription factor TFIIIC complex	IBA	21873635
GO:0000127	Component	Transcription factor TFIIIC complex	IDA	17409385
GO:0003677	Function	DNA binding	IC	17409385
GO:0005515	Function	Protein binding	IPI	17314511, 17500595, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006383	Process	Transcription by RNA polymerase III	IBA	21873635
GO:0006383	Process	Transcription by RNA polymerase III	IC	17409385
GO:0031965	Component	Nuclear membrane	IDA
GO:0042791	Process	5S class rRNA transcription by RNA polymerase III	IC	17409385
GO:0042797	Process	TRNA transcription by RNA polymerase III	IC	17409385

Other IDs

• MIM: 604888
• HGNC: 4666
• e!Ensembl: ENSG00000119041

Protein

• UniProt ID: Q9Y5Q9
• Protein name: General transcription factor 3C polypeptide 3 (Transcription factor IIIC 102 kDa subunit) (TFIIIC 102 kDa subunit) (TFIIIC102) (Transcription factor IIIC subunit gamma) (TF3C-gamma)
• Protein function: Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.
• PDB: 8CLK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13181	TPR_8	220 → 250	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	456 → 487	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	811 → 842	Tetratricopeptide repeat	Repeat

• Sequence:

  MSGFSPELIDYLEGKISFEEFERRREERKTREKKSLQEKGKLSAEENPDDSEVPSSSGIN
  STKSQDKDVNEGETSDGVRKSVHKVFASMLGENEDDEEEEEEEEEEEEEEETPEQPTAGD
  VFVLEMVLNRETKKMMKEKRPRSKLPRALRGLMGEANIRFARGEREEAILMCMEIIRQAP
  LAYEPFSTLAMIYEDQGDMEKSLQFELIAAHLNPSDTEEWVRLAEMSLEQDNIKQAIFCY
  TKALKYEPTNVRYLWERSSLYEQMGDHKMAMDGYRRILNLLSPSDGERFMQLARDMAKSY
  YEANDVTSAINIIDEAFSKHQGLVSMEDVNIAAELYISNKQYDKALEIITDFSGIVLEKK
  TSEEGTSEENKAPENVTCTIPDGVPIDITVKLMVCLVHLNILEPLNPLLTTLVEQNPEDM
  GDLYLDVAEAFLDVGEYNSALPLLSALVCSERYNLAVVWLRHAECLKALGYMERAAESYG
  KVVDLAPLHLDARISLSTLQQQLGQPEKALEALEPMYDPDTLAQDANAAQQELKLLLHRS
  TLLFSQGKMYGYVDTLLTMLAMLLKVAMNRAQVCLISSSKSGERHLYLIKVSRDKISDSN
  DQESANCDAKAIFAVLTSVLTKDDWWNLLLKAIYSLCDLSRFQEAELLVDSSLEYYSFYD
  DRQKRKELEYFGLSAAILDKNFRKAYNYIRIMVMENVNKPQLWNIFNQVTMHSQDVRHHR
  FCLRLMLKNPENHALCVLNGHNAFVSGSFKHALGQYVQAFRTHPDEPLYSFCIGLTFIHM
  ASQKYVLRRHALIVQGFSFLNRYLSLRGPCQESFYNLGRGLHQLGLIHLAIHYYQKALEL
  PPLVVEGIELDQLDLRRDIAYNLSLIYQSSGNTGMAQTLLYTYCSI

• Sequence length: 886

Pathways

Reactome:

RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter

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	30552426
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	30552426

Unknown
Disease term	Disease name	Evidence	References	Source
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	30552426
Developmental Disabilities	Associate	30552426
Epileptic Encephalopathy Early Infantile 3	Associate	30552426