Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1861
Gene name	Torsin family 1 member A
Gene symbol	TOR1A
Synonyms (NCBI Gene)	AMC5DQ2DYT1
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

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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

244

Show/Hide all (244)

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

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000338	Process	Protein deneddylation	IMP	21102408
GO:0005515	Function	Protein binding	IPI	15147511, 15505207, 15767459, 18167355, 18827015, 21102408, 23569223, 25416956, 25910212, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12671990
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	17037984, 20015956
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17037984
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006457	Process	Protein folding	IDA	20169475
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	ISS
GO:0007155	Process	Cell adhesion	IMP	16361107
GO:0008021	Component	Synaptic vesicle	IDA	21102408
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008092	Function	Cytoskeletal protein binding	IPI	16361107, 18827015
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IDA	23569223
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	23569223
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019894	Function	Kinesin binding	IBA
GO:0019894	Function	Kinesin binding	IEA
GO:0019894	Function	Kinesin binding	IPI	14970196
GO:0030133	Component	Transport vesicle	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030141	Component	Secretory granule	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031175	Process	Neuron projection development	IMP	16361107, 24930953
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034504	Process	Protein localization to nucleus	IBA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0034504	Process	Protein localization to nucleus	IMP	18827015
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IMP	24930953
GO:0042802	Function	Identical protein binding	IPI	20015956
GO:0042995	Component	Cell projection	IEA
GO:0044319	Process	Wound healing, spreading of cells	IEA
GO:0044319	Process	Wound healing, spreading of cells	ISS
GO:0045104	Process	Intermediate filament cytoskeleton organization	IMP	16361107
GO:0045202	Component	Synapse	IEA
GO:0048489	Process	Synaptic vesicle transport	IMP	18167355
GO:0048499	Process	Synaptic vesicle membrane organization	IMP	24930953
GO:0051082	Function	Unfolded protein binding	TAS	10814722
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IDA	15505207
GO:0051787	Function	Misfolded protein binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071763	Process	Nuclear membrane organization	IBA
GO:0071763	Process	Nuclear membrane organization	IEA
GO:0071763	Process	Nuclear membrane organization	ISS
GO:0140662	Function	ATP-dependent protein folding chaperone	IDA	15505207
GO:0140662	Function	ATP-dependent protein folding chaperone	IMP	24930953
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IMP	21102408
GO:2000008	Process	Regulation of protein localization to cell surface	IMP	15505207

MIM	HGNC	e!Ensembl
605204	3098	ENSG00000136827

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highest levels in kidney and liver. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also highly expressed in

Sequence

MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREA
LQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIY
EGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLI
DAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHAL
SVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRV
AEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD

Sequence length

332

Interactions

View interactions

	Reactome
			Cargo recognition for clathrin-mediated endocytosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita 5	Likely pathogenic; Pathogenic	rs80358233, rs753220814, rs760768475, rs2030965698, rs774552108	RCV002504750 RCV003155900 RCV001250912 RCV001250910 RCV001250911	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs80358233, rs760768475	RCV000584141 RCV005091969	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset generalized limb-onset dystonia	Pathogenic; Likely pathogenic	rs2131007486, rs2131001171, rs2131004790, rs80358233, rs760768475	RCV001647331 RCV002246779 RCV002246780 RCV000005488 RCV000677723	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOR1A-related disorder	Likely pathogenic; Pathogenic	rs80358233, rs2490563082	RCV003335014 RCV004550658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia 1, torsion, late-onset	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA MUSCULORUM DEFORMANS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA MUSCULORUM DEFORMANS TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset atypical, with myoclonic features	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIC DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET TORSION DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL TORSION DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC TORSION DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC FAMILIAL DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (144)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult-Onset Dystonias	Dystonia	BEFREE	19344776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Dystonias	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Focal Dystonias	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Torsion Dystonias	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cysts	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	29053766, 30244176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29064046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31808517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21628452, 34579148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29182645	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Familial Dystonia	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Familial Dystonia	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign essential blepharospasm	Benign Essential Blepharospasm	BEFREE	17133500, 19202559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign essential blepharospasm	Benign essential blepharospasm	Pubtator	19202559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	Pubtator	19202559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	21102408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	10458765, 16865785, 19098862, 21140086, 21484038, 22662777, 23674852, 24444577, 24705698, 25003269, 25172978, 25200477, 25483516, 26001889, 26088570 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	14530392, 22086396, 30763397, 30779476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	29561984	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	BEFREE	18477710, 29868845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	12691403		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	22770546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27769743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33324408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	9391259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	BEFREE	16275837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	18212280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	32149153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	40617169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27249418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	7738367, 8245782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10074012, 29064046, 32149153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16275837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17244154, 21628452, 25483516, 26861694, 27138053, 27861808, 29182645, 29924845, 32754804, 34113337, 37309552, 8529124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17906106, 26088570	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20337975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	40088780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29504938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	1347197, 15505207, 15897512, 16631205, 17066475, 17503336, 17947338, 18258738, 18552369, 18971629, 19202559, 19284587, 19339278, 19344776, 19528516 View all (33 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia	Dystonia	Pubtator	33468570	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	CLINVAR_DG	10435508, 10627938, 21168499, 25403864, 9288096, 9576529		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	GENOMICS_ENGLAND_DG	11523564, 16537570, 24896178, 28516161		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	UNIPROT_DG	14970196, 15505207, 16361107, 17428918, 18167355, 18477710, 18827015, 19955557, 20169475, 21102408, 27490483, 9288096		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	BEFREE	16773641, 18477710, 19955557, 20976771, 24880044, 25155315, 25403864, 27453152, 29053766, 30397842, 7845403		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 12	Dystonia	BEFREE	15390042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 12	Dystonia	Pubtator	15897512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 6, torsion (disorder)	Dystonia	BEFREE	17078060, 20687193, 21949105, 22610459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	10225357, 10449567, 10553994, 10644435, 10714658, 10802779, 10881900, 11104212, 11481697, 11523564, 11757956, 11781416, 11835464, 11921121, 11973627 View all (191 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	LHGDN	17130424		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	CTD_human_DG	23222958		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	BEFREE	10050893, 10435508, 10449567, 10714658, 10720299, 10738516, 10802779, 10871631, 11277585, 11757956, 11835464, 11993591, 12007841, 12821514, 12859412 View all (37 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia musculorum deformans	Pubtator	11438481, 1347197, 1427899, 15505207, 15897512, 17503336, 18258738, 18322712, 18552369, 24949445, 8079990, 9149944, 9837831	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	LHGDN	11757956, 12481989, 17503336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia musculorum deformans type 1	Dystonia musculorum deformans	Pubtator	10449567, 15505207, 18322712, 19535332, 22487959, 28768697, 36757831	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, Primary	Dystonia	BEFREE	14628853, 16198613, 16631205, 17078060, 17539945, 18224570, 18477841, 19284587, 19344776, 20113340, 20865765, 21370265, 21515903, 22172551, 22487959 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	BEFREE	15264771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonias, Sporadic	Dystonia	BEFREE	16631205, 17130424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonias, Sporadic	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19284587, 19344776, 19955557, 20669276, 22487959, 22722545, 23449625, 24500857, 25149450, 25337725, 27490483, 32239467, 35022352, 36749014	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset torsion dystonia	Dystonia	BEFREE	10225357, 10449567, 10477437, 10644435, 10714658, 10720299, 10738516, 10802779, 10871631, 11277585, 11757956, 11921134, 11993591, 12691403, 12821514 View all (47 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset torsion dystonia	Dystonia	GENOMICS_ENGLAND_DG	11523564, 16537570		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset torsion dystonia	Dystonia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset generalized limb-onset dystonia	Limb-Onset Dystonia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Epilepsy	Pubtator	22722545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	17013905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	BEFREE	18224570, 19890997, 22022556, 23284065, 27911022, 28198698, 29127012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	BEFREE	17133500, 18477841, 19955557, 20669276, 26704435, 26803725, 28081261, 9837831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23674852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	17702041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29053766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	26704435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	15793882, 17006990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic familial dystonia	Dystonia	CTD_human_DG	23222958		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	19052350, 19834793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17013905, 27769743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22722545, 36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	33260434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	BEFREE	15505159, 19284587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	21515903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	19098862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	11438481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15535834	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21628452, 3262691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29983692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	32239467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	28102337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12402271, 14872019, 16911351, 17105745, 19284587, 19457118, 19651773, 20053375, 20298201, 20590813, 20627944, 21995941, 25860259, 28198698, 28553638, 31294022, 31618684 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	LHGDN	14872019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	25149450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21385364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21628452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	26596547		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28102337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	12391355, 12402271, 12781594, 14872019, 15258227, 16227522, 17702041, 19066193, 28102337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	28102337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonus-dystonia syndrome	Myoclonus-Dystonia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27861808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	15028751, 27707963, 28871039, 29127012, 29289717, 30366018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21102408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	17066475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14872019, 19038309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	40617169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	Parkinson disease	BEFREE	29983692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10720299, 11523564, 22266882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	10627938, 10720299, 10738516, 10802779, 11261511, 11757956, 11921130, 11993591, 12360559, 12539217, 14872019, 14978677, 15390064, 15505159, 16874761 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudodystonia	Pycnodysostosis	BEFREE	12360559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudodystonia	Pycnodysostosis	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	BEFREE	15326234		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent depression	Mental Depression	PSYGENET_DG	15326234		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent major depressive episodes	Mental Depression	BEFREE	15326234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	7738367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	36757831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal cord myoclonus	Spinal Cord Myoclonus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	29053766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	10674821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26790671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	34579148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22722545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	CTD_human_DG	23222958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	19038309		★★★★★ ★☆☆☆☆ Found in Text Mining only

TOR1A (torsin family 1 member A)