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

220

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
Dystonic disorder	Likely pathogenic; Pathogenic	rs80358233, rs760768475	RCV000584141 RCV005091969
Early-onset generalized limb-onset dystonia	Pathogenic; Likely pathogenic	rs2131007486, rs2131001171, rs2131004790, rs80358233, rs760768475	RCV001647331 RCV002246779 RCV002246780 RCV000005488 RCV000677723
TOR1A-related disorder	Likely pathogenic; Pathogenic	rs80358233, rs2490563082	RCV003335014 RCV004550658

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7858127, rs72755217, rs199964594	RCV005918226 RCV005891151 RCV005900503
Cervical cancer	Uncertain significance; Benign	rs200937403, rs72755217	RCV005928485 RCV005891153
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs72755217	RCV005891163
Dystonia 1, torsion, late-onset	Conflicting classifications of pathogenicity	rs267607134	RCV000005491
Dystonia, early-onset atypical, with myoclonic features	Uncertain significance	rs80358235	RCV000005489
Flexion contracture	Uncertain significance	rs1588216830	RCV001007840
Gastric cancer	Benign	rs72755217	RCV005891156
Lung cancer	Benign	rs72755217	RCV005891161
Lymphoma	Benign	rs72755217	RCV005891157
Malignant tumor of esophagus	Benign	rs72755217	RCV005891152
Ovarian cancer	Benign	rs72755217	RCV005891154
Ovarian serous cystadenocarcinoma	Benign	rs72755217, rs199964594	RCV005891158 RCV005900504
Sarcoma	Benign	rs7858127, rs72755217	RCV005918227 RCV005891155
Thymoma	Benign	rs72755217	RCV005891160
Uterine carcinosarcoma	Benign	rs7858127, rs72755217	RCV005918228 RCV005891159
Uterine corpus endometrial carcinoma	Benign	rs72755217	RCV005891162

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21515903
Adenoma Islet Cell	Associate	8529124
Arachnoid Cysts	Associate	36757831
Arthrogryposis	Associate	36757831
Atherosclerosis	Associate	29064046
Autistic Disorder	Associate	31808517
Autoimmune Diseases	Associate	21628452, 34579148
Autoimmune Diseases	Stimulate	29182645
Benign essential blepharospasm	Associate	19202559
Blepharospasm	Associate	19202559
Calcium Metabolism Disorders	Associate	21102408
Celiac Disease	Associate	10458765, 16865785, 19098862, 21140086, 21484038, 22662777, 23674852, 24444577, 24705698, 25003269, 25172978, 25200477, 25483516, 26001889, 26088570 View all (12 more)
Celiac Disease	Stimulate	29561984
Cognition Disorders	Associate	33324408
Colitis	Associate	9391259
Contracture	Associate	36757831
Crohn Disease	Associate	32149153
Death	Associate	32239467
Dementia	Associate	40617169
Depressive Disorder	Associate	27249418
Dermatitis Herpetiformis	Associate	7738367, 8245782
Developmental Disabilities	Associate	36757831
Diabetes Mellitus	Associate	10074012, 29064046, 32149153
Diabetes Mellitus Type 1	Associate	17244154, 21628452, 25483516, 26861694, 27138053, 27861808, 29182645, 29924845, 32754804, 34113337, 37309552, 8529124
Diabetes Mellitus Type 1	Stimulate	17906106, 26088570
Disease	Associate	11839711, 11950806, 24916643, 26718815
Dyskinesias	Associate	40088780
Dystonia	Associate	1347197, 15505207, 15897512, 16631205, 17066475, 17503336, 17947338, 18258738, 18552369, 18971629, 19202559, 19284587, 19339278, 19344776, 19528516 View all (33 more)
Dystonia	Stimulate	33468570
Dystonia 12	Associate	15897512
Dystonia Dopa responsive	Associate	12325076
Dystonia Musculorum Deformans	Associate	11438481, 1347197, 1427899, 15505207, 15897512, 17503336, 18258738, 18322712, 18552369, 24949445, 8079990, 9149944, 9837831
Dystonia musculorum deformans type 1	Associate	10449567, 15505207, 18322712, 19535332, 22487959, 28768697, 36757831
Dystonic Disorders	Associate	19284587, 19344776, 19955557, 20669276, 22487959, 22722545, 23449625, 24500857, 25149450, 25337725, 27490483, 32239467, 35022352, 36749014
Epilepsy	Associate	22722545
Facial Dysmorphism with Multiple Malformations	Associate	36757831
Fetal Growth Retardation	Associate	36757831
Gait Disorders Neurologic	Associate	36757831
Gastrointestinal Diseases	Associate	23674852
Genetic Diseases Inborn	Associate	24880044, 36757831
Hepatitis Autoimmune	Associate	15793882, 17006990
IgA Deficiency	Associate	19052350, 19834793
Inflammation	Associate	34113337
Intellectual Disability	Associate	22722545, 36757831
Irritable Bowel Syndrome	Associate	33260434
Learning Disabilities	Associate	21515903
Leukemia Lymphoid	Associate	19098862
Leukoencephalopathies	Associate	36757831
Lewy Body Disease	Associate	11438481
Lupus Erythematosus Systemic	Stimulate	15535834
Lupus Erythematosus Systemic	Associate	21628452, 3262691
Malformations of Cortical Development	Associate	32239467
Mental Disorders	Associate	24930953
Movement Disorders	Associate	25149450
Multiple Sclerosis	Associate	21628452
Muscle Spasticity	Associate	36757831
Myoclonic dystonia	Associate	28102337
Myoclonus	Associate	24930953
Myotonic Dystrophy	Associate	27861808
Neonatal hemochromatosis	Associate	32299122
Nerve Degeneration	Associate	33843981
Neuroblastoma	Associate	21102408
Neurodegenerative Diseases	Associate	36757831
Obsessive Compulsive Disorder	Associate	31808517
Paraneoplastic Syndromes Nervous System	Associate	33843981
Parkinson Disease	Associate	40617169
Penile Induration	Associate	8976283
Polyendocrinopathies Autoimmune	Associate	25402387
Skin Diseases Vesiculobullous	Associate	7738367
Somnambulism	Associate	36757831
Spastic Paraplegia Hereditary	Associate	36757831
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	34579148
Ulcer	Stimulate	10611103
Vascular Diseases	Associate	22722545

TOR1A (torsin family 1 member A)