KCNC3 (potassium voltage-gated channel subfamily C member 3)

Gene

• Entrez ID: 3748
• Gene name: Potassium voltage-gated channel subfamily C member 3
• Gene symbol: KCNC3
• Synonyms (NCBI Gene): KSHIIID, KV3.3, SCA13
• Disease Acronyms (UniProt): SCA13
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encode

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894699	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs104894700	G>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs747618525	CGGGGGTGG>-,CGGGGGTGGCGGGGGTGG	Likely-pathogenic, likely-benign	Inframe insertion, coding sequence variant, intron variant, inframe deletion
rs797044872	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs879253883	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1064795793	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1408825410	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT712473	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712472	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT712471	hsa-miR-3183	HITS-CLIP	19536157
MIRT712470	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT712469	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT712468	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT712467	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT712466	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT712465	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT712464	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT712463	hsa-miR-637	HITS-CLIP	19536157
MIRT712462	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT712461	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT712460	hsa-miR-7974	HITS-CLIP	19536157
MIRT712459	hsa-miR-663b	HITS-CLIP	19536157
MIRT712458	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT712457	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT712456	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT657059	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT657058	hsa-miR-4267	HITS-CLIP	23824327
MIRT657057	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT657055	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT657056	hsa-miR-4448	HITS-CLIP	23824327
MIRT657054	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT657053	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT657052	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT495694	hsa-miR-4438	PAR-CLIP	22291592
MIRT495693	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495692	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495691	hsa-miR-7108-3p	PAR-CLIP	22291592
MIRT495690	hsa-miR-4707-3p	PAR-CLIP	22291592
MIRT495689	hsa-miR-6069	PAR-CLIP	22291592
MIRT712473	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712472	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT712471	hsa-miR-3183	HITS-CLIP	19536157
MIRT712470	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT712469	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT712468	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT712467	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT712466	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT712465	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT712464	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT712463	hsa-miR-637	HITS-CLIP	19536157
MIRT712462	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT712461	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT712460	hsa-miR-7974	HITS-CLIP	19536157
MIRT712459	hsa-miR-663b	HITS-CLIP	19536157
MIRT712458	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT712457	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT712456	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT657059	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT657058	hsa-miR-4267	HITS-CLIP	23824327
MIRT657057	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT657055	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT657056	hsa-miR-4448	HITS-CLIP	23824327
MIRT657054	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT657053	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT657052	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT495694	hsa-miR-4438	PAR-CLIP	22291592
MIRT495693	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495692	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495691	hsa-miR-7108-3p	PAR-CLIP	22291592
MIRT495690	hsa-miR-4707-3p	PAR-CLIP	22291592
MIRT495689	hsa-miR-6069	PAR-CLIP	22291592
MIRT1080569	hsa-miR-1207-5p	CLIP-seq
MIRT1080570	hsa-miR-1231	CLIP-seq
MIRT1080571	hsa-miR-1321	CLIP-seq
MIRT1080572	hsa-miR-1909	CLIP-seq
MIRT1080573	hsa-miR-2276	CLIP-seq
MIRT1080574	hsa-miR-2278	CLIP-seq
MIRT1080575	hsa-miR-2467-5p	CLIP-seq
MIRT1080576	hsa-miR-3120-5p	CLIP-seq
MIRT1080577	hsa-miR-3199	CLIP-seq
MIRT1080578	hsa-miR-342-3p	CLIP-seq
MIRT1080579	hsa-miR-378	CLIP-seq
MIRT1080580	hsa-miR-378b	CLIP-seq
MIRT1080581	hsa-miR-378c	CLIP-seq
MIRT1080582	hsa-miR-378d	CLIP-seq
MIRT1080583	hsa-miR-378e	CLIP-seq
MIRT1080584	hsa-miR-378f	CLIP-seq
MIRT1080585	hsa-miR-378h	CLIP-seq
MIRT1080586	hsa-miR-378i	CLIP-seq
MIRT1080587	hsa-miR-422a	CLIP-seq
MIRT1080588	hsa-miR-4268	CLIP-seq
MIRT1080589	hsa-miR-4300	CLIP-seq
MIRT1080590	hsa-miR-431	CLIP-seq
MIRT1080591	hsa-miR-4419a	CLIP-seq
MIRT1080592	hsa-miR-4475	CLIP-seq
MIRT1080593	hsa-miR-4481	CLIP-seq
MIRT1080594	hsa-miR-4506	CLIP-seq
MIRT1080595	hsa-miR-4510	CLIP-seq
MIRT1080596	hsa-miR-4514	CLIP-seq
MIRT1080597	hsa-miR-4527	CLIP-seq
MIRT1080598	hsa-miR-4638-3p	CLIP-seq
MIRT1080599	hsa-miR-4651	CLIP-seq
MIRT1080600	hsa-miR-4656	CLIP-seq
MIRT1080601	hsa-miR-4690-5p	CLIP-seq
MIRT1080602	hsa-miR-4691-5p	CLIP-seq
MIRT1080603	hsa-miR-4692	CLIP-seq
MIRT1080604	hsa-miR-4699-5p	CLIP-seq
MIRT1080605	hsa-miR-4708-3p	CLIP-seq
MIRT1080606	hsa-miR-4711-3p	CLIP-seq
MIRT1080607	hsa-miR-4728-5p	CLIP-seq
MIRT1080608	hsa-miR-4739	CLIP-seq
MIRT1080609	hsa-miR-4745-5p	CLIP-seq
MIRT1080610	hsa-miR-4756-5p	CLIP-seq
MIRT1080611	hsa-miR-4758-5p	CLIP-seq
MIRT1080612	hsa-miR-4763-3p	CLIP-seq
MIRT1080613	hsa-miR-4772-3p	CLIP-seq
MIRT1080614	hsa-miR-608	CLIP-seq
MIRT1080615	hsa-miR-615-5p	CLIP-seq
MIRT1080616	hsa-miR-626	CLIP-seq
MIRT1080617	hsa-miR-920	CLIP-seq
MIRT1080618	hsa-miR-940	CLIP-seq
MIRT2019986	hsa-miR-2110	CLIP-seq
MIRT2019987	hsa-miR-3150a-3p	CLIP-seq
MIRT2019988	hsa-miR-3189-3p	CLIP-seq
MIRT1080578	hsa-miR-342-3p	CLIP-seq
MIRT2019989	hsa-miR-34a	CLIP-seq
MIRT2019990	hsa-miR-34c-5p	CLIP-seq
MIRT2019991	hsa-miR-371b-3p	CLIP-seq
MIRT2019992	hsa-miR-4271	CLIP-seq
MIRT2019993	hsa-miR-4488	CLIP-seq
MIRT2019994	hsa-miR-449a	CLIP-seq
MIRT2019995	hsa-miR-449b	CLIP-seq
MIRT2019996	hsa-miR-4697-5p	CLIP-seq
MIRT2019997	hsa-miR-4725-3p	CLIP-seq
MIRT2019998	hsa-miR-4747-5p	CLIP-seq
MIRT2019999	hsa-miR-513a-5p	CLIP-seq
MIRT2020000	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IBA	21873635
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	19953606, 21479265, 23734863, 25756792
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	23734863, 25152487, 25756792
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	23734863
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0032590	Component	Dendrite membrane	IBA	21873635
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051262	Process	Protein tetramerization	IDA	23734863
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19953606, 21479265, 23734863, 25756792

Other IDs

• MIM: 176264
• HGNC: 6235
• e!Ensembl: ENSG00000131398

Protein

• UniProt ID: Q14003
• Protein name: Voltage-gated potassium channel KCNC3 (KSHIIID) (Potassium voltage-gated channel subfamily C member 3) (Voltage-gated potassium channel subunit Kv3.3)
• Protein function: Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through whi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11404	Potassium_chann	1 → 23	Potassium voltage-gated channel	Family
  PF02214	BTB_2	90 → 184	BTB/POZ domain	Domain
  PF00520	Ion_trans	289 → 550	Ion transport protein	Family

• Sequence:

  MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRG
  PGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEP
  EAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETD
  VEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG
  ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFI
  LISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFT
  FEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR
  ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL
  GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVN
  NFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPI
  TPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRAD
  PRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS
  IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP

• Sequence length: 757

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Voltage gated Potassium channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
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	Mild 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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Spinocerebellar ataxia	Spinocerebellar ataxia 13, Spinocerebellar ataxia type 13	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	21479265, 22289912, 23734863, 19953606, 16501573, 25152487, 25756792

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	24030952, 37365508, 39596509
Cerebellar Diseases	Associate	23912307
Cerebral Palsy Ataxic Autosomal Recessive	Associate	25981959
Cognition Disorders	Associate	39596509
Developmental Disabilities	Associate	24372385
Drug Resistant Epilepsy	Associate	28388656
Epilepsy	Associate	24372385, 37365508
Gait Disorders Neurologic	Associate	25756792
Intellectual Disability	Associate	25756792
Oculomotor Nerve Diseases	Associate	39596509
Spinocerebellar ataxia 13	Associate	23912307, 24116147, 25756792, 37365508, 39596509
Spinocerebellar Ataxias	Stimulate	29316893
Spinocerebellar Ataxias	Associate	37301203
Spinocerebellar Degenerations	Associate	24030952