ATXN10 (ataxin 10)

Gene

• Entrez ID: 25814
• Gene name: Ataxin 10
• Gene symbol: ATXN10
• Synonyms: ATX10, E46L, HUMEEP, SCA10
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 8

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020830	hsa-miR-155-5p	Proteomics	18668040
MIRT028592	hsa-miR-30a-5p	Proteomics	18668040
MIRT046248	hsa-miR-23b-3p	CLASH	23622248
MIRT158763	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT158763	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT810634	hsa-miR-1208	CLIP-seq
MIRT810635	hsa-miR-127-5p	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT810640	hsa-miR-3156-3p	CLIP-seq
MIRT810641	hsa-miR-320e	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810643	hsa-miR-4301	CLIP-seq
MIRT810644	hsa-miR-4475	CLIP-seq
MIRT810645	hsa-miR-452	CLIP-seq
MIRT810646	hsa-miR-4668-5p	CLIP-seq
MIRT810647	hsa-miR-4676-3p	CLIP-seq
MIRT810648	hsa-miR-4686	CLIP-seq
MIRT810649	hsa-miR-4731-5p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810651	hsa-miR-532-3p	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810653	hsa-miR-626	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT810654	hsa-miR-155	CLIP-seq
MIRT810655	hsa-miR-190	CLIP-seq
MIRT810656	hsa-miR-190b	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT810657	hsa-miR-2278	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT810658	hsa-miR-3140-3p	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810660	hsa-miR-340	CLIP-seq
MIRT810661	hsa-miR-34b	CLIP-seq
MIRT810662	hsa-miR-3617	CLIP-seq
MIRT810663	hsa-miR-3682-3p	CLIP-seq
MIRT810664	hsa-miR-3925-5p	CLIP-seq
MIRT810665	hsa-miR-4276	CLIP-seq
MIRT810666	hsa-miR-4468	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT810668	hsa-miR-450b-5p	CLIP-seq
MIRT810669	hsa-miR-4678	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT810648	hsa-miR-4686	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810672	hsa-miR-4795-3p	CLIP-seq
MIRT810673	hsa-miR-4803	CLIP-seq
MIRT810674	hsa-miR-507	CLIP-seq
MIRT810675	hsa-miR-518a-5p	CLIP-seq
MIRT810676	hsa-miR-527	CLIP-seq
MIRT810677	hsa-miR-539	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT810679	hsa-miR-557	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT810653	hsa-miR-626	CLIP-seq
MIRT810681	hsa-miR-641	CLIP-seq
MIRT810682	hsa-miR-653	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT1545634	hsa-miR-297	CLIP-seq
MIRT1545635	hsa-miR-3149	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT1545636	hsa-miR-567	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT1939609	hsa-miR-2052	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT1545634	hsa-miR-297	CLIP-seq
MIRT1545635	hsa-miR-3149	CLIP-seq
MIRT1939610	hsa-miR-3202	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810660	hsa-miR-340	CLIP-seq
MIRT1939611	hsa-miR-421	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT1939612	hsa-miR-4533	CLIP-seq
MIRT1939613	hsa-miR-4650-3p	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT1545636	hsa-miR-567	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT810654	hsa-miR-155	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT2178843	hsa-miR-23a	CLIP-seq
MIRT2178844	hsa-miR-23b	CLIP-seq
MIRT2178845	hsa-miR-23c	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810660	hsa-miR-340	CLIP-seq
MIRT810664	hsa-miR-3925-5p	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT1939613	hsa-miR-4650-3p	CLIP-seq
MIRT2178846	hsa-miR-4668-3p	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT810648	hsa-miR-4686	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810672	hsa-miR-4795-3p	CLIP-seq
MIRT810675	hsa-miR-518a-5p	CLIP-seq
MIRT810676	hsa-miR-527	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT2178847	hsa-miR-548c-3p	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT810653	hsa-miR-626	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810654	hsa-miR-155	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT2482395	hsa-miR-1321	CLIP-seq
MIRT2482396	hsa-miR-1343	CLIP-seq
MIRT810654	hsa-miR-155	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT2178843	hsa-miR-23a	CLIP-seq
MIRT2178844	hsa-miR-23b	CLIP-seq
MIRT2178845	hsa-miR-23c	CLIP-seq
MIRT2482397	hsa-miR-24	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT1545634	hsa-miR-297	CLIP-seq
MIRT1545635	hsa-miR-3149	CLIP-seq
MIRT2482398	hsa-miR-3158-3p	CLIP-seq
MIRT2482399	hsa-miR-3192	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810660	hsa-miR-340	CLIP-seq
MIRT2482400	hsa-miR-3545-3p	CLIP-seq
MIRT2482401	hsa-miR-3618	CLIP-seq
MIRT2482402	hsa-miR-3646	CLIP-seq
MIRT2482403	hsa-miR-3662	CLIP-seq
MIRT2482404	hsa-miR-3682-5p	CLIP-seq
MIRT810664	hsa-miR-3925-5p	CLIP-seq
MIRT810665	hsa-miR-4276	CLIP-seq
MIRT2482405	hsa-miR-4314	CLIP-seq
MIRT2482406	hsa-miR-4419a	CLIP-seq
MIRT2482407	hsa-miR-4437	CLIP-seq
MIRT2482408	hsa-miR-4446-3p	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT2482409	hsa-miR-4506	CLIP-seq
MIRT2482410	hsa-miR-4510	CLIP-seq
MIRT2482411	hsa-miR-4646-5p	CLIP-seq
MIRT1939613	hsa-miR-4650-3p	CLIP-seq
MIRT2178846	hsa-miR-4668-3p	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT2482412	hsa-miR-4690-3p	CLIP-seq
MIRT2482413	hsa-miR-4698	CLIP-seq
MIRT2482414	hsa-miR-4709-3p	CLIP-seq
MIRT2482415	hsa-miR-4712-5p	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT2482416	hsa-miR-4728-5p	CLIP-seq
MIRT2482417	hsa-miR-4739	CLIP-seq
MIRT2482418	hsa-miR-4756-5p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT2482419	hsa-miR-494	CLIP-seq
MIRT2482420	hsa-miR-516a-5p	CLIP-seq
MIRT810675	hsa-miR-518a-5p	CLIP-seq
MIRT810676	hsa-miR-527	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT2178847	hsa-miR-548c-3p	CLIP-seq
MIRT1545636	hsa-miR-567	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT2482421	hsa-miR-642b	CLIP-seq
MIRT2482422	hsa-miR-770-5p	CLIP-seq
MIRT2482423	hsa-miR-934	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq
MIRT810636	hsa-miR-128	CLIP-seq
MIRT2482395	hsa-miR-1321	CLIP-seq
MIRT2482396	hsa-miR-1343	CLIP-seq
MIRT810654	hsa-miR-155	CLIP-seq
MIRT810637	hsa-miR-21	CLIP-seq
MIRT2178843	hsa-miR-23a	CLIP-seq
MIRT2178844	hsa-miR-23b	CLIP-seq
MIRT2178845	hsa-miR-23c	CLIP-seq
MIRT2482397	hsa-miR-24	CLIP-seq
MIRT810638	hsa-miR-27a	CLIP-seq
MIRT810639	hsa-miR-27b	CLIP-seq
MIRT2675776	hsa-miR-296-3p	CLIP-seq
MIRT1545634	hsa-miR-297	CLIP-seq
MIRT2675777	hsa-miR-3064-3p	CLIP-seq
MIRT1545635	hsa-miR-3149	CLIP-seq
MIRT2482398	hsa-miR-3158-3p	CLIP-seq
MIRT2482399	hsa-miR-3192	CLIP-seq
MIRT810659	hsa-miR-323-3p	CLIP-seq
MIRT810642	hsa-miR-338-5p	CLIP-seq
MIRT810660	hsa-miR-340	CLIP-seq
MIRT2482400	hsa-miR-3545-3p	CLIP-seq
MIRT2482401	hsa-miR-3618	CLIP-seq
MIRT2482402	hsa-miR-3646	CLIP-seq
MIRT2482403	hsa-miR-3662	CLIP-seq
MIRT2675778	hsa-miR-3671	CLIP-seq
MIRT2482404	hsa-miR-3682-5p	CLIP-seq
MIRT2675779	hsa-miR-3691-3p	CLIP-seq
MIRT810664	hsa-miR-3925-5p	CLIP-seq
MIRT810665	hsa-miR-4276	CLIP-seq
MIRT2482405	hsa-miR-4314	CLIP-seq
MIRT2482406	hsa-miR-4419a	CLIP-seq
MIRT2482407	hsa-miR-4437	CLIP-seq
MIRT2482408	hsa-miR-4446-3p	CLIP-seq
MIRT810667	hsa-miR-4470	CLIP-seq
MIRT2675780	hsa-miR-4504	CLIP-seq
MIRT2482409	hsa-miR-4506	CLIP-seq
MIRT2482410	hsa-miR-4510	CLIP-seq
MIRT2482411	hsa-miR-4646-5p	CLIP-seq
MIRT1939613	hsa-miR-4650-3p	CLIP-seq
MIRT2178846	hsa-miR-4668-3p	CLIP-seq
MIRT810670	hsa-miR-4685-5p	CLIP-seq
MIRT2482412	hsa-miR-4690-3p	CLIP-seq
MIRT2482413	hsa-miR-4698	CLIP-seq
MIRT2482414	hsa-miR-4709-3p	CLIP-seq
MIRT2482415	hsa-miR-4712-5p	CLIP-seq
MIRT810671	hsa-miR-4716-3p	CLIP-seq
MIRT2482416	hsa-miR-4728-5p	CLIP-seq
MIRT2482417	hsa-miR-4739	CLIP-seq
MIRT2482418	hsa-miR-4756-5p	CLIP-seq
MIRT810650	hsa-miR-4789-5p	CLIP-seq
MIRT810675	hsa-miR-518a-5p	CLIP-seq
MIRT810676	hsa-miR-527	CLIP-seq
MIRT810678	hsa-miR-548an	CLIP-seq
MIRT2178847	hsa-miR-548c-3p	CLIP-seq
MIRT1545636	hsa-miR-567	CLIP-seq
MIRT810652	hsa-miR-590-5p	CLIP-seq
MIRT810680	hsa-miR-618	CLIP-seq
MIRT2482421	hsa-miR-642b	CLIP-seq
MIRT2482422	hsa-miR-770-5p	CLIP-seq
MIRT2482423	hsa-miR-934	CLIP-seq
MIRT810683	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16498633, 21565611, 26496610, 32814053
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IDA	15201271
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007399	Process	Nervous system development	IMP	16385455
GO:0016020	Component	Membrane	HDA	19946888
GO:0019899	Function	Enzyme binding	IEA
GO:0030425	Component	Dendrite	IDA	15201271
GO:0031175	Process	Neuron projection development	IBA	21873635
GO:0031175	Process	Neuron projection development	IDA	16498633
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IDA	15201271
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15201271, 16498633
GO:0060271	Process	Cilium assembly	IEA

Other IDs

• MIM: 611150
• HGNC: 10549
• e!Ensembl: ENSG00000130638

Protein

• UniProt ID: Q9UBB4
• Protein name: Ataxin-10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein)
• Protein function: May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the surv
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09759	Atx10homo_assoc	370 → 467	Spinocerebellar ataxia type 10 protein domain	Domain

• Sequence:

  MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHA
  VELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRE
  LRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMI
  LFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFLKSPELVQAMFPKLNN
  QERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEA
  LATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAE
  GDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIY
  AIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILKSTRDTPKP

• Sequence length: 475

Pathways

KEGG:

Spinocerebellar ataxia

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Epilepsy	Epilepsy, Partial, Motor	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Nephronophthisis	Nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs759330, rs2070634, rs2070635, rs353623, rs353618, rs353612, rs353637, rs353630, rs353647, rs3794110, rs3794109, rs112762, rs3794105, rs7110737, rs7116432, rs6055363, rs2294305, rs2235250, rs2294301, rs2423326, rs6118004, rs2205818, rs2142697, rs6140463, rs2235245, rs2255183, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	21565611
Nystagmus	Nystagmus, Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Seizure	Complex partial seizures, Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Spinocerebellar ataxia	Spinocerebellar Ataxia 10, Spinocerebellar ataxia type 10	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	17620556

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Ciliopathies	Ciliopathies
Dementia	Dementia
Dysarthria	Dysarthria
Dyscognitive seizures	Complex partial seizure with impairment of consciousness
Dyskinetic syndrome	Dyskinetic syndrome
Dysphagia	Deglutition Disorders
Dyssomnia	Dyssomnias
Mental depression	Depressive disorder	rs587778876, rs587778877
Sleep disorders	Sleep Disorders
Status epilepticus	Status Epilepticus