TOR1A (torsin family 1 member A)

Gene

• Entrez ID: 1861
• Gene name: Torsin family 1 member A
• Gene symbol: TOR1A
• Synonyms: AMC5, DQ2, DYT1
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801968	C>G,T	Risk-factor, likely-benign, benign	Missense variant, coding sequence variant, non coding transcript variant
rs80358233	CTC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs267607134	A>T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs727502811	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs760768475	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051256	hsa-miR-16-5p	CLASH	23622248
MIRT722992	hsa-miR-34b-3p	HITS-CLIP	19536157
MIRT722991	hsa-miR-4289	HITS-CLIP	19536157
MIRT722990	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT722989	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT722988	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT449860	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT722992	hsa-miR-34b-3p	HITS-CLIP	19536157
MIRT722991	hsa-miR-4289	HITS-CLIP	19536157
MIRT722990	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT722989	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT722988	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT449860	hsa-miR-29a-5p	PAR-CLIP	22100165
MIRT1447441	hsa-miR-1237	CLIP-seq
MIRT1447442	hsa-miR-1248	CLIP-seq
MIRT1447443	hsa-miR-1272	CLIP-seq
MIRT1447444	hsa-miR-128	CLIP-seq
MIRT1447445	hsa-miR-2054	CLIP-seq
MIRT1447446	hsa-miR-210	CLIP-seq
MIRT1447447	hsa-miR-2682	CLIP-seq
MIRT1447448	hsa-miR-27a	CLIP-seq
MIRT1447449	hsa-miR-27b	CLIP-seq
MIRT1447450	hsa-miR-3169	CLIP-seq
MIRT1447451	hsa-miR-3182	CLIP-seq
MIRT1447452	hsa-miR-34a	CLIP-seq
MIRT1447453	hsa-miR-34b	CLIP-seq
MIRT1447454	hsa-miR-34c-5p	CLIP-seq
MIRT1447455	hsa-miR-3646	CLIP-seq
MIRT1447456	hsa-miR-3659	CLIP-seq
MIRT1447457	hsa-miR-3667-3p	CLIP-seq
MIRT1447458	hsa-miR-380	CLIP-seq
MIRT1447459	hsa-miR-3915	CLIP-seq
MIRT1447460	hsa-miR-3920	CLIP-seq
MIRT1447461	hsa-miR-3926	CLIP-seq
MIRT1447462	hsa-miR-3928	CLIP-seq
MIRT1447463	hsa-miR-4302	CLIP-seq
MIRT1447464	hsa-miR-4320	CLIP-seq
MIRT1447465	hsa-miR-4448	CLIP-seq
MIRT1447466	hsa-miR-4450	CLIP-seq
MIRT1447467	hsa-miR-4495	CLIP-seq
MIRT1447468	hsa-miR-449a	CLIP-seq
MIRT1447469	hsa-miR-449b	CLIP-seq
MIRT1447470	hsa-miR-449c	CLIP-seq
MIRT1447471	hsa-miR-4514	CLIP-seq
MIRT1447472	hsa-miR-4645-3p	CLIP-seq
MIRT1447473	hsa-miR-4645-5p	CLIP-seq
MIRT1447474	hsa-miR-4658	CLIP-seq
MIRT1447475	hsa-miR-4673	CLIP-seq
MIRT1447476	hsa-miR-4692	CLIP-seq
MIRT1447477	hsa-miR-4699-5p	CLIP-seq
MIRT1447478	hsa-miR-4740-5p	CLIP-seq
MIRT1447479	hsa-miR-4762-3p	CLIP-seq
MIRT1447480	hsa-miR-483-3p	CLIP-seq
MIRT1447481	hsa-miR-495	CLIP-seq
MIRT1447482	hsa-miR-499-3p	CLIP-seq
MIRT1447483	hsa-miR-499a-3p	CLIP-seq
MIRT1447484	hsa-miR-508-5p	CLIP-seq
MIRT1447485	hsa-miR-542-5p	CLIP-seq
MIRT1447486	hsa-miR-548s	CLIP-seq
MIRT1447487	hsa-miR-574-5p	CLIP-seq
MIRT1447488	hsa-miR-633	CLIP-seq
MIRT1447489	hsa-miR-644	CLIP-seq
MIRT1447490	hsa-miR-663b	CLIP-seq
MIRT1447491	hsa-miR-887	CLIP-seq
MIRT1447492	hsa-miR-889	CLIP-seq
MIRT2133769	hsa-miR-105	CLIP-seq
MIRT1447444	hsa-miR-128	CLIP-seq
MIRT2133770	hsa-miR-1305	CLIP-seq
MIRT2133771	hsa-miR-140-3p	CLIP-seq
MIRT2133772	hsa-miR-142-5p	CLIP-seq
MIRT2133773	hsa-miR-1914	CLIP-seq
MIRT1447445	hsa-miR-2054	CLIP-seq
MIRT1447448	hsa-miR-27a	CLIP-seq
MIRT1447449	hsa-miR-27b	CLIP-seq
MIRT2133774	hsa-miR-31	CLIP-seq
MIRT2133775	hsa-miR-3190	CLIP-seq
MIRT1447458	hsa-miR-380	CLIP-seq
MIRT2133776	hsa-miR-3978	CLIP-seq
MIRT2133777	hsa-miR-4290	CLIP-seq
MIRT1447467	hsa-miR-4495	CLIP-seq
MIRT2133778	hsa-miR-4504	CLIP-seq
MIRT2133779	hsa-miR-4667-3p	CLIP-seq
MIRT1447482	hsa-miR-499-3p	CLIP-seq
MIRT1447483	hsa-miR-499a-3p	CLIP-seq
MIRT2133780	hsa-miR-561	CLIP-seq
MIRT2354910	hsa-miR-1	CLIP-seq
MIRT2354911	hsa-miR-103a	CLIP-seq
MIRT2354912	hsa-miR-107	CLIP-seq
MIRT2354913	hsa-miR-134	CLIP-seq
MIRT2133772	hsa-miR-142-5p	CLIP-seq
MIRT2354914	hsa-miR-1587	CLIP-seq
MIRT2354915	hsa-miR-186	CLIP-seq
MIRT2354916	hsa-miR-206	CLIP-seq
MIRT2133774	hsa-miR-31	CLIP-seq
MIRT2354917	hsa-miR-3118	CLIP-seq
MIRT2354918	hsa-miR-3128	CLIP-seq
MIRT2354919	hsa-miR-3133	CLIP-seq
MIRT2354920	hsa-miR-331-3p	CLIP-seq
MIRT2354921	hsa-miR-338-3p	CLIP-seq
MIRT2354922	hsa-miR-340	CLIP-seq
MIRT2354923	hsa-miR-3614-5p	CLIP-seq
MIRT2354924	hsa-miR-3619-3p	CLIP-seq
MIRT2354925	hsa-miR-3649	CLIP-seq
MIRT1447457	hsa-miR-3667-3p	CLIP-seq
MIRT2354926	hsa-miR-3673	CLIP-seq
MIRT2133776	hsa-miR-3978	CLIP-seq
MIRT2354927	hsa-miR-4265	CLIP-seq
MIRT2354928	hsa-miR-4296	CLIP-seq
MIRT2354929	hsa-miR-4322	CLIP-seq
MIRT2354930	hsa-miR-4417	CLIP-seq
MIRT2354931	hsa-miR-4420	CLIP-seq
MIRT2354932	hsa-miR-4487	CLIP-seq
MIRT2133778	hsa-miR-4504	CLIP-seq
MIRT2354933	hsa-miR-4520a-3p	CLIP-seq
MIRT2354934	hsa-miR-4530	CLIP-seq
MIRT2354935	hsa-miR-4749-3p	CLIP-seq
MIRT2354936	hsa-miR-4793-5p	CLIP-seq
MIRT2354937	hsa-miR-518a-5p	CLIP-seq
MIRT2354938	hsa-miR-527	CLIP-seq
MIRT2354939	hsa-miR-613	CLIP-seq
MIRT2354940	hsa-miR-885-3p	CLIP-seq
MIRT2354941	hsa-miR-890	CLIP-seq
MIRT2354942	hsa-miR-922	CLIP-seq
MIRT2462141	hsa-miR-4261	CLIP-seq
MIRT2462142	hsa-miR-4270	CLIP-seq
MIRT2462143	hsa-miR-4441	CLIP-seq
MIRT2462144	hsa-miR-4651	CLIP-seq
MIRT2462145	hsa-miR-4755-3p	CLIP-seq
MIRT2462146	hsa-miR-608	CLIP-seq
MIRT2648658	hsa-miR-1236	CLIP-seq
MIRT2648659	hsa-miR-1243	CLIP-seq
MIRT2648660	hsa-miR-181a	CLIP-seq
MIRT2648661	hsa-miR-181b	CLIP-seq
MIRT2648662	hsa-miR-181c	CLIP-seq
MIRT2648663	hsa-miR-181d	CLIP-seq
MIRT2648664	hsa-miR-188-3p	CLIP-seq
MIRT2648665	hsa-miR-28-5p	CLIP-seq
MIRT2133774	hsa-miR-31	CLIP-seq
MIRT2648666	hsa-miR-3139	CLIP-seq
MIRT2648667	hsa-miR-3153	CLIP-seq
MIRT1447450	hsa-miR-3169	CLIP-seq
MIRT2133775	hsa-miR-3190	CLIP-seq
MIRT2648668	hsa-miR-3202	CLIP-seq
MIRT1447453	hsa-miR-34b	CLIP-seq
MIRT1447456	hsa-miR-3659	CLIP-seq
MIRT2648669	hsa-miR-3911	CLIP-seq
MIRT1447461	hsa-miR-3926	CLIP-seq
MIRT2133776	hsa-miR-3978	CLIP-seq
MIRT2648670	hsa-miR-409-3p	CLIP-seq
MIRT2462141	hsa-miR-4261	CLIP-seq
MIRT2648671	hsa-miR-4262	CLIP-seq
MIRT2462142	hsa-miR-4270	CLIP-seq
MIRT1447463	hsa-miR-4302	CLIP-seq
MIRT1447464	hsa-miR-4320	CLIP-seq
MIRT2354931	hsa-miR-4420	CLIP-seq
MIRT2462143	hsa-miR-4441	CLIP-seq
MIRT2648672	hsa-miR-4463	CLIP-seq
MIRT2354932	hsa-miR-4487	CLIP-seq
MIRT2133778	hsa-miR-4504	CLIP-seq
MIRT2648673	hsa-miR-4533	CLIP-seq
MIRT2648674	hsa-miR-4639-5p	CLIP-seq
MIRT1447472	hsa-miR-4645-3p	CLIP-seq
MIRT2462144	hsa-miR-4651	CLIP-seq
MIRT1447474	hsa-miR-4658	CLIP-seq
MIRT2648675	hsa-miR-4685-5p	CLIP-seq
MIRT2648676	hsa-miR-4731-5p	CLIP-seq
MIRT1447478	hsa-miR-4740-5p	CLIP-seq
MIRT2462145	hsa-miR-4755-3p	CLIP-seq
MIRT1447480	hsa-miR-483-3p	CLIP-seq
MIRT1447481	hsa-miR-495	CLIP-seq
MIRT2648677	hsa-miR-532-3p	CLIP-seq
MIRT2648678	hsa-miR-543	CLIP-seq
MIRT1447486	hsa-miR-548s	CLIP-seq
MIRT2648679	hsa-miR-548u	CLIP-seq
MIRT1447487	hsa-miR-574-5p	CLIP-seq
MIRT2648680	hsa-miR-595	CLIP-seq
MIRT2648681	hsa-miR-607	CLIP-seq
MIRT2462146	hsa-miR-608	CLIP-seq
MIRT2648682	hsa-miR-637	CLIP-seq
MIRT1447489	hsa-miR-644	CLIP-seq
MIRT1447490	hsa-miR-663b	CLIP-seq
MIRT2648683	hsa-miR-708	CLIP-seq
MIRT2648684	hsa-miR-873	CLIP-seq
MIRT2648658	hsa-miR-1236	CLIP-seq
MIRT2648659	hsa-miR-1243	CLIP-seq
MIRT2648660	hsa-miR-181a	CLIP-seq
MIRT2648661	hsa-miR-181b	CLIP-seq
MIRT2648662	hsa-miR-181c	CLIP-seq
MIRT2648663	hsa-miR-181d	CLIP-seq
MIRT2648664	hsa-miR-188-3p	CLIP-seq
MIRT1447447	hsa-miR-2682	CLIP-seq
MIRT2648665	hsa-miR-28-5p	CLIP-seq
MIRT2133774	hsa-miR-31	CLIP-seq
MIRT2648666	hsa-miR-3139	CLIP-seq
MIRT2648667	hsa-miR-3153	CLIP-seq
MIRT1447450	hsa-miR-3169	CLIP-seq
MIRT2133775	hsa-miR-3190	CLIP-seq
MIRT2648668	hsa-miR-3202	CLIP-seq
MIRT1447452	hsa-miR-34a	CLIP-seq
MIRT1447453	hsa-miR-34b	CLIP-seq
MIRT1447454	hsa-miR-34c-5p	CLIP-seq
MIRT1447456	hsa-miR-3659	CLIP-seq
MIRT2648669	hsa-miR-3911	CLIP-seq
MIRT1447461	hsa-miR-3926	CLIP-seq
MIRT2133776	hsa-miR-3978	CLIP-seq
MIRT2648670	hsa-miR-409-3p	CLIP-seq
MIRT2648671	hsa-miR-4262	CLIP-seq
MIRT1447463	hsa-miR-4302	CLIP-seq
MIRT1447464	hsa-miR-4320	CLIP-seq
MIRT2354931	hsa-miR-4420	CLIP-seq
MIRT2648672	hsa-miR-4463	CLIP-seq
MIRT2354932	hsa-miR-4487	CLIP-seq
MIRT1447468	hsa-miR-449a	CLIP-seq
MIRT1447469	hsa-miR-449b	CLIP-seq
MIRT1447470	hsa-miR-449c	CLIP-seq
MIRT2133778	hsa-miR-4504	CLIP-seq
MIRT1447471	hsa-miR-4514	CLIP-seq
MIRT2648673	hsa-miR-4533	CLIP-seq
MIRT2648674	hsa-miR-4639-5p	CLIP-seq
MIRT1447472	hsa-miR-4645-3p	CLIP-seq
MIRT1447473	hsa-miR-4645-5p	CLIP-seq
MIRT2462144	hsa-miR-4651	CLIP-seq
MIRT1447474	hsa-miR-4658	CLIP-seq
MIRT1447475	hsa-miR-4673	CLIP-seq
MIRT2648675	hsa-miR-4685-5p	CLIP-seq
MIRT1447476	hsa-miR-4692	CLIP-seq
MIRT2648676	hsa-miR-4731-5p	CLIP-seq
MIRT1447478	hsa-miR-4740-5p	CLIP-seq
MIRT1447480	hsa-miR-483-3p	CLIP-seq
MIRT1447481	hsa-miR-495	CLIP-seq
MIRT1447484	hsa-miR-508-5p	CLIP-seq
MIRT2648677	hsa-miR-532-3p	CLIP-seq
MIRT2648678	hsa-miR-543	CLIP-seq
MIRT1447486	hsa-miR-548s	CLIP-seq
MIRT2648679	hsa-miR-548u	CLIP-seq
MIRT1447487	hsa-miR-574-5p	CLIP-seq
MIRT2648680	hsa-miR-595	CLIP-seq
MIRT2648681	hsa-miR-607	CLIP-seq
MIRT2462146	hsa-miR-608	CLIP-seq
MIRT2648682	hsa-miR-637	CLIP-seq
MIRT1447489	hsa-miR-644	CLIP-seq
MIRT1447490	hsa-miR-663b	CLIP-seq
MIRT2648683	hsa-miR-708	CLIP-seq
MIRT2648684	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000338	Process	Protein deneddylation	IMP	21102408
GO:0005515	Function	Protein binding	IPI	15147511, 15505207, 15767459, 18167355, 18827015, 21102408, 23569223, 25416956, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005635	Component	Nuclear envelope	IBA	21873635
GO:0005635	Component	Nuclear envelope	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	12671990
GO:0005788	Component	Endoplasmic reticulum lumen	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	17037984, 20015956
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006996	Process	Organelle organization	ISS
GO:0006998	Process	Nuclear envelope organization	ISS
GO:0007155	Process	Cell adhesion	IMP	16361107
GO:0008021	Component	Synaptic vesicle	IDA	21102408
GO:0008092	Function	Cytoskeletal protein binding	IPI	16361107, 18827015
GO:0016020	Component	Membrane	IDA	23569223
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	23569223
GO:0019894	Function	Kinesin binding	IBA	21873635
GO:0019894	Function	Kinesin binding	IPI	14970196
GO:0030141	Component	Secretory granule	ISS
GO:0030426	Component	Growth cone	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	ISS
GO:0031175	Process	Neuron projection development	IMP	16361107
GO:0031965	Component	Nuclear membrane	IDA
GO:0034504	Process	Protein localization to nucleus	IBA	21873635
GO:0034504	Process	Protein localization to nucleus	IMP	18827015
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0042406	Component	Extrinsic component of endoplasmic reticulum membrane	IDA	17037984
GO:0042802	Function	Identical protein binding	IPI	20015956
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0044319	Process	Wound healing, spreading of cells	ISS
GO:0045104	Process	Intermediate filament cytoskeleton organization	IMP	16361107
GO:0048489	Process	Synaptic vesicle transport	IMP	18167355
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051085	Process	Chaperone cofactor-dependent protein refolding	IEA
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IDA	15505207
GO:0051787	Function	Misfolded protein binding	IEA
GO:0061077	Process	Chaperone-mediated protein folding	IDA	20169475
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071712	Process	ER-associated misfolded protein catabolic process	ISS
GO:0071763	Process	Nuclear membrane organization	IBA	21873635
GO:0071763	Process	Nuclear membrane organization	ISS
GO:0072321	Process	Chaperone-mediated protein transport	IDA	15505207
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IMP	21102408
GO:2000008	Process	Regulation of protein localization to cell surface	IMP	15505207

Other IDs

• MIM: 605204
• HGNC: 3098
• e!Ensembl: ENSG00000136827

Protein

• UniProt ID: O14656
• Protein name: Torsin-1A (Dystonia 1 protein) (Torsin ATPase-1A) (EC 3.6.4.-) (Torsin family 1 member A)
• Protein function: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, control
• PDB: 5J1S, 5J1T, 6OIF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06309	Torsin	44 → 169	Torsin	Family

• Sequence:

  MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREA
  LQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIY
  EGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLI
  DAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHAL
  SVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRV
  AEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD

• Sequence length: 332

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dystonia	Dystonia Musculorum Deformans, Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia, DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT, Early onset torsion dystonia	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	23222958, 18827015, 11523564, 9288096, 10627938, 25403864, 27490483, 21168499, 18167355, 15505207, 19955557, 18477710, 16537570, 24896178, 9576529, 16361107, 14970196, 20169475, 10435508, 28516161, 17428918, 21102408, 16537570, 11523564
Limb-onset dystonia	Early-onset generalized limb-onset dystonia	rs80358233, rs760768475
Myoclonic dystonia	Myoclonic dystonia	rs121908489, rs121908490, rs863223283, rs121908491, rs863223284, rs1584531843, rs121908492, rs863223285, rs398123812, rs786205860, rs794727794, rs886039595, rs1057517990, rs1057519246, rs1189469219, rs1064794321, rs1064797339, rs1554352819, rs1554355416, rs1554353106, rs1554345052, rs1554352952, rs1554358727, rs1554352906, rs1554345077, rs1554345162, rs1554345170, rs1562806242, rs1562805960, rs1562812370, rs1562853011, rs1562811414, rs1584637958, rs1584663425, rs1584663290, rs1584546131, rs372686312, rs1584546494, rs1584692239, rs1584700882, rs1584546238, rs1799563986
Prostate cancer	Prostate carcinoma, Prostate cancer, familial	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29892016
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 1	rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	29892016
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Blepharospasm	Blepharospasm
Dysarthria	Dysarthria
Focal dystonia	Focal Dystonia		23222958
Mental depression	Depressive disorder, Recurrent depression	rs587778876, rs587778877	15326234
Myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome
Obsessive-compulsive disorder	Obsessive compulsive behavior
Panic disorder	Panic Attacks
Personality disorders	Personality Disorders
Pycnodysostosis	Pseudodystonia		23222958
Spinal cord myoclonus	Spinal cord myoclonus
Writer`s cramp	Writer`s Cramp		23222958