Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dystonia
go back to main search page
Accession:DOID:543 term browser browse the term
Definition:A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)
Synonyms:exact_synonym: Autosomal Recessive Familial Dystonia;   Childhood Onset Dystonia;   Dystonia Disorder;   Dystonia Disorders;   Dystonic Disorder;   Dystonic Disorders;   Familial Dystonia;   Familial Dystonias;   Hereditary Dystonia;   Hereditary Dystonias;   Idiopathic Familial Dystonia;   Idiopathic Familial Dystonias;   Limb Dystonia;   Muscle Dystonia;   Primary Dystonia;   Primary Dystonias;   Pseudodystonia;   Pseudodystonias;   Psychogenic Dystonia;   Psychogenic Dystonias;   Secondary Dystonia;   adult onset dystonias;   adult onset idiopathic focal dystonias;   adult onset idiopathic torsion dystonias;   adult-onset dystonia;   autosomal dominant familial dystonia;   childhood onset dystonias;   diurnal dystonia;   dystonic disease;   paroxysmal dystonia;   secondary dystonias;   sporadic dystonia;   sporadic dystonias;   writer cramp;   writer's cramp;   writers cramp
 narrow_synonym: dystonia 1;   regression of motor development with severe dystonia and corresponding basal ganglia lesions
 related_synonym: Dystonia 1, torsion, modifier of
 primary_id: MESH:D004421
 alt_id: MESH:D020821
 xref: ICD10CM:G24;   NCI:C34563;   OMIM:PS128100;   OMIM:PS128200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:26467025 PMID:32219868 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:25741868 PMID:27666935 PMID:28492532 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO
IAGP
DNA:insertions, deletion:intron, exons (mouse)
DNA:insertion:intron (rat)
RGD PMID:14556008, PMID:16246457 RGD:1599348, RGD:5133436 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:15260953 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 IEP mRNA:increased expression:cerebellar cortex RGD PMID:17092653 RGD:1599351 NCBI chr13:50,091,644...50,153,808
Ensembl chr13:50,091,430...50,153,823
JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,162,700...89,175,504
Ensembl chr 1:89,162,639...89,175,811
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Dystonic disease ClinVar PMID:25741868 PMID:29100089 PMID:32581362 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,313,475...89,329,902
Ensembl chr 1:89,314,558...89,329,418
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19404753 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:22447717 PMID:23222958 PMID:25778706 PMID:28492532 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,075,987...89,084,834
Ensembl chr 1:89,075,975...89,084,859
Ensembl chr 2:89,075,975...89,084,859
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:8596935 PMID:9054946 PMID:15329070 PMID:15483648 PMID:16155205 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:29358611 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions ClinVar PMID:25558065 PMID:25741868 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702617 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,215,266...89,229,696
Ensembl chr 1:89,215,266...89,229,696
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:21150907 PMID:22992668 PMID:23340505 PMID:25711927 PMID:25741868 PMID:28492532 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,091,239...89,094,570
Ensembl chr 1:89,091,239...89,094,530
JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,408,718...89,416,629
Ensembl chr 1:89,408,935...89,416,745
JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,308,475...89,309,379
Ensembl chr 1:89,308,475...89,309,379
JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,268,197...89,271,942
Ensembl chr 1:89,268,938...89,269,930
JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,302,035...89,304,064
Ensembl chr 1:89,302,039...89,303,968
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,484,197...89,488,279
Ensembl chr 1:89,484,199...89,488,223
JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,502,561...89,510,146
Ensembl chr 1:89,502,562...89,509,343
JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,464,853...89,474,450
Ensembl chr 1:89,464,860...89,474,252
JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,474,601...89,484,069
Ensembl chr 1:89,474,601...89,483,988
JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,180,063...89,195,347
Ensembl chr 1:89,180,063...89,194,602
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO dopa-responsive dystonia,OMIM:128230;DNA:point mutations:R88W,D134V
ClinVar Annotator: match by term: Dystonia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15389992, PMID:7874165 RGD:1601280 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17114051 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Gnal G protein subunit alpha L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:23222958 PMID:24535567 PMID:28492532 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Dystonia
ClinVar Annotator: match by term: Dystonic disease
ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31034681 PMID:31735425 PMID:32581362 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,113,045...89,124,971
Ensembl chr 1:89,109,750...89,124,132
JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,534,112...89,549,575
Ensembl chr 1:89,534,106...89,543,967
JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,008,117...89,010,256
Ensembl chr 1:89,008,117...89,010,256
JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,020,341...89,022,221
Ensembl chr 1:89,020,341...89,022,219
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Dystonic disease
ClinVar Annotator: match by term: Dystonia
ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30455893 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:28492532 PMID:32581362 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:27992417 PMID:32581362 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,234,689...89,235,610
Ensembl chr 1:89,232,439...89,235,598
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,010,254...89,014,481
Ensembl chr 1:89,010,257...89,014,189
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 PMID:25592411 PMID:25741868 PMID:28492532 PMID:30088953 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,383,515...89,399,041
Ensembl chr 1:89,383,519...89,399,041
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 PMID:28492532 PMID:31159747 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Dystonia, adult-onset ClinVar PMID:11938495 PMID:12756609 PMID:26467025 PMID:28821228 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:1734303 PMID:12058097 PMID:28492532 PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:166,534,643...166,626,158
Ensembl chr 1:166,534,643...166,626,158
JBrowse link
G Penk proenkephalin IEP mRNA:decreased expression:striatum: RGD PMID:22595488 RGD:10003100 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:24033266 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 PMID:16216955 PMID:20301400 NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:18243799 PMID:24033266 PMID:28492532 NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:88,994,552...89,007,808
Ensembl chr 1:88,994,562...89,007,041
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,016,093...89,017,449
Ensembl chr 1:89,016,096...89,017,290
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr18:45,378,357...45,380,797
Ensembl chr18:45,379,707...45,380,730
JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,099,296...89,109,248
Ensembl chr 1:89,099,277...89,109,230
JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:18835386 PMID:25741868 PMID:29276004 PMID:29768694 PMID:32581362 NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Dystonic disease ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:26596517 PMID:29023086 PMID:32581362 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,202,527...89,206,994
Ensembl chr 1:89,202,527...89,206,994
JBrowse link
G Scp2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Dystonia
ClinVar Annotator: match by term: Paroxysmal dystonia
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Spr sepiapterin reductase susceptibility ISO DNA:deletion, transitions
ClinVar Annotator: match by term: Dystonia
ClinVar PMID:11443547 PMID:16917893 PMID:17159114 PMID:18502672 PMID:19491146 PMID:21431957 PMID:21677200 PMID:22522443 PMID:23430877 PMID:24212389 PMID:25741868 PMID:25763508 PMID:28492532 PMID:29116116 PMID:29147684 PMID:32581362, PMID:11443547 RGD:1600054 NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:2019643 PMID:7814018 PMID:8528210 PMID:8817341 PMID:9536098 PMID:9703425 PMID:9732974 PMID:10407773 PMID:11160968 PMID:11246459 PMID:12891655 PMID:15468323 PMID:15505183 PMID:15747353 PMID:16643317 PMID:17576681 PMID:17696123 PMID:17698732 PMID:18554280 PMID:19120120 PMID:19282209 PMID:20056467 PMID:20198643 PMID:20399390 PMID:20430833 PMID:20492352 PMID:20823027 PMID:21465550 PMID:21937992 PMID:21940685 PMID:22264700 PMID:22572540 PMID:22583432 PMID:23480488 PMID:23939262 PMID:24275212 PMID:24753243 PMID:25224241 PMID:25741868 PMID:26276013 PMID:26467025 PMID:27165006 PMID:27185167 PMID:27619486 PMID:28087438 PMID:28186668 PMID:28492532 PMID:29225908 PMID:29405179 PMID:29801903 PMID:30455893 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Thap1 THAP domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
CTD
ClinVar
PMID:23222958 PMID:32581362 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 susceptibility ISO DNA:mutation:exon; associated with deafness
DNA:deletion:cds:108delG(human)
RGD PMID:11405816, PMID:11601506 RGD:1600152, RGD:13209134 NCBI chr  X:105,351,714...105,355,722
Ensembl chr  X:105,352,402...105,355,716
JBrowse link
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,177,995...89,179,815
Ensembl chr 1:89,177,992...89,179,825
JBrowse link
G Tor1a torsin family 1, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
ClinVar Annotator: match by term: Dystonia 1
ClinVar Annotator: match by term: Dystonia 1, torsion, modifier of
CTD
ClinVar
PMID:9288096 PMID:9536098 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 PMID:17503336 PMID:17576681 PMID:18477710 PMID:18519876 PMID:19955557 PMID:20227500 PMID:21078339 PMID:23222958 PMID:24033266 PMID:24930953 PMID:24931141 PMID:25741868 PMID:27168150 PMID:27477622 PMID:28492532 PMID:30244176 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,017,414...89,019,651
Ensembl chr 1:89,017,479...89,019,937
JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,060,581...89,071,579
Ensembl chr 1:89,060,581...89,068,348
JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,371,798...89,383,005
Ensembl chr 1:89,371,794...89,382,463
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr 1:89,043,121...89,052,863
Ensembl chr 1:89,043,086...89,045,586
JBrowse link
Benign Essential Blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO OMIM NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:14684687 PMID:15576045 PMID:16337195 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO DNA:repeat
CTD Direct Evidence: marker/mechanism
CTD PMID:11781417, PMID:11781417 RGD:734899 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
cervical dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:28649782 NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2, childhood onset
ClinVar Annotator: match by term: Dystonia 18
OMIM
ClinVar
PMID:2344855 PMID:9462754 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 PMID:14605501 PMID:16949238 PMID:17052934 PMID:18403583 PMID:18414213 PMID:18451999 PMID:18606970 PMID:19630075 PMID:19798636 PMID:19901175 PMID:19996082 PMID:20129935 PMID:20301603 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21832227 PMID:23106342 PMID:23448551 PMID:24847886 PMID:25167861 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:26216499 PMID:26598494 PMID:26615598 PMID:27351150 PMID:28492532 PMID:31605543 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:105,351,714...105,355,722
Ensembl chr  X:105,352,402...105,355,716
JBrowse link
dystonia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Dystonia 12
ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism
DNA:deletion:exon:p.S148del, c.443_445delGAG (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:128235
OMIM
ClinVar
CTD
PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 PMID:15390049 PMID:16632466 PMID:17282997 PMID:17516473 PMID:17576681 PMID:17595045 PMID:18414213 PMID:19652145 PMID:20558373 PMID:20576601 PMID:21911500 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:23681173 PMID:24088041 PMID:24100174 PMID:24336169 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25359261 PMID:25447930 PMID:25523819 PMID:25624492 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26990090 PMID:26993267 PMID:27146299 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28214263 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28849312 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30657467 PMID:32581362 PMID:32963807, PMID:25359261 RGD:11055714 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
dystonia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,522,480...63,535,835
Ensembl chr 3:63,522,403...63,535,991
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:28492532 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,536,166...63,557,378
Ensembl chr 3:63,536,166...63,557,361
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16
ClinVar Annotator: match by OMIM:612067
OMIM
ClinVar
PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 PMID:25741868 PMID:26231208 PMID:26990861 PMID:28492532 NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
dystonia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Dystonia 23 OMIM
ClinVar
PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
dystonia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonia 24
ClinVar Annotator: match by OMIM:615034
OMIM
ClinVar
PMID:11009204 PMID:23200863 PMID:25741868 PMID:27666935 PMID:28492532 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
JBrowse link
dystonia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dystonia 25
ClinVar Annotator: match by OMIM:615073
OMIM
ClinVar
PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:26506956 PMID:27123488 PMID:30605297 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630
JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Dystonia 27
ClinVar Annotator: match by OMIM:616411
ClinVar
OMIM
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
DYSTONIA 28, CHILDHOOD-ONSET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: DYSTONIA 28, CHILDHOOD-ONSET
ClinVar Annotator: match by term: Dystonia 28, childhood-onset
ClinVar
OMIM
PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28520167 PMID:29697234 PMID:32581362 PMID:32860008 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
dystonia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dystonia 5
ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant
ClinVar Annotator: match by term: Dystonia, dopa-responsive
ClinVar Annotator: match by term: Dystonia 5, Dopa-responsive type
ClinVar Annotator: match by term: DYSTONIA, DOPA-RESPONSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:128230
OMIM
ClinVar
CTD
PMID:1530300 PMID:7730309 PMID:8619546 PMID:8852666 PMID:9328244 PMID:9536098 PMID:9566388 PMID:9576537 PMID:9667588 PMID:9749603 PMID:9778264 PMID:10078749 PMID:10208576 PMID:10457396 PMID:10496263 PMID:10732814 PMID:10825351 PMID:10984668 PMID:10984670 PMID:11026444 PMID:11113234 PMID:11359069 PMID:11486899 PMID:12391354 PMID:12473771 PMID:12707079 PMID:12874420 PMID:15303002 PMID:15389992 PMID:15753436 PMID:16917893 PMID:17044972 PMID:17101830 PMID:17111153 PMID:17576681 PMID:17898029 PMID:18044725 PMID:18276179 PMID:19332422 PMID:19491146 PMID:20082337 PMID:20108370 PMID:20187889 PMID:20491893 PMID:20818608 PMID:20842687 PMID:22373569 PMID:23211702 PMID:23430498 PMID:23762320 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25181484 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26400349 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27313105 PMID:27619486 PMID:27666935 PMID:28492532 PMID:28582483 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dystonia, dopa-responsive ClinVar NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Dystonia 9
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
DNA:missense mutation:exon: p.R212C (c.634C>T) (human)
OMIM
ClinVar
PMID:8808284 PMID:10980529 PMID:11477212 PMID:12325075 PMID:16217704 PMID:16949238 PMID:17052934 PMID:18414213 PMID:18606970 PMID:19798636 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26467025 PMID:26537434 PMID:28492532, PMID:21832227 RGD:12879478 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
Dystonia Musculorum Deformans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
ClinVar
OMIM
PMID:25741868 PMID:27817865 PMID:32313153 NCBI chr 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
JBrowse link
episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by OMIM:128200
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia
ClinVar Annotator: match by term: Dystonia 10
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:11179027 PMID:11346027 PMID:17576681 PMID:18414213 PMID:19914906 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22515636 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22902309 PMID:22985072 PMID:23063574 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23436308 PMID:23456995 PMID:23496026 PMID:23529024 PMID:23551744 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24372385 PMID:24465263 PMID:24594579 PMID:24661410 PMID:24755245 PMID:24811917 PMID:24828792 PMID:25167861 PMID:25421402 PMID:25449067 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26446061 PMID:26467025 PMID:26598493 PMID:26598494 PMID:26629640 PMID:26742926 PMID:26936445 PMID:26944167 PMID:27123484 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28166811 PMID:28492532 PMID:28525812 PMID:28906077 PMID:29285950 PMID:29334453 PMID:29801903 PMID:30386286 PMID:30980674 PMID:31124310 PMID:32038460 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Dystonia 10
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link
focal dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISS MouseDO NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
generalized dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 PMID:15390049 PMID:16632466 PMID:17282997 PMID:17516473 PMID:17576681 PMID:17595045 PMID:18414213 PMID:19652145 PMID:20558373 PMID:20576601 PMID:21911500 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:23681173 PMID:24088041 PMID:24100174 PMID:24336169 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25359261 PMID:25447930 PMID:25523819 PMID:25624492 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26990090 PMID:26993267 PMID:27146299 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28214263 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28849312 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30657467 PMID:32581362 PMID:32963807 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO OMIM NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
hypermanganesemia with dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 ClinVar
OMIM
PMID:25741868 PMID:28541650 PMID:29685658 NCBI chr15:51,982,872...52,029,841
Ensembl chr15:51,982,982...52,029,816
JBrowse link
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
CTD
ClinVar
PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 PMID:25741868 PMID:28492532 PMID:30272946 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
Juvenile-Onset Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Juvenile-onset dystonia OMIM
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25741868 PMID:29220674 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068 PMID:17413873 PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with dystonia and motor neuropathy
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16685654 PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar
PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
JBrowse link
myoclonic dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd17 potassium channel tetramerization domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:119,647,301...119,658,148
Ensembl chr 7:119,647,375...119,658,148
JBrowse link
G Sgce sarcoglycan, epsilon ISO OMIM NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
myoclonic dystonia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 PMID:11022010 PMID:11523564 PMID:11528394 PMID:12391338 PMID:12391355 PMID:12402271 PMID:12743249 PMID:12821748 PMID:12874409 PMID:15079037 PMID:15389977 PMID:15728306 PMID:16227522 PMID:16240355 PMID:17101905 PMID:17296918 PMID:17576681 PMID:17853490 PMID:18175340 PMID:18205193 PMID:18349702 PMID:18355305 PMID:18362280 PMID:19117362 PMID:22026499 PMID:22259621 PMID:23365103 PMID:23677909 PMID:23748201 PMID:24297365 PMID:24759409 PMID:25401298 PMID:25741868 PMID:26467025 PMID:28155872 PMID:28166811 PMID:28492532 PMID:30849405 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:23677909 PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Sgce sarcoglycan, epsilon ISS
ISO
OMIM:159900
ClinVar Annotator: match by term: Myoclonic dystonia 11
MouseDO
ClinVar
PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 PMID:11022010 PMID:11523564 PMID:11528394 PMID:12391338 PMID:12391355 PMID:12402271 PMID:12743249 PMID:12821748 PMID:12874409 PMID:15079037 PMID:15389977 PMID:15728306 PMID:16227522 PMID:16240355 PMID:17101905 PMID:17296918 PMID:17576681 PMID:17853490 PMID:18175340 PMID:18205193 PMID:18349702 PMID:18355305 PMID:18362280 PMID:19117362 PMID:22026499 PMID:22259621 PMID:23365103 PMID:23677909 PMID:23748201 PMID:24297365 PMID:24759409 PMID:25401298 PMID:25741868 PMID:26046366 PMID:26467025 PMID:28155872 PMID:28166811 PMID:28492532 PMID:30849405 NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
myoclonic dystonia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Dystonia 26, myoclonic ClinVar
OMIM
PMID:25741868 PMID:25983243 PMID:28492532 NCBI chr 7:119,647,301...119,658,148
Ensembl chr 7:119,647,375...119,658,148
JBrowse link
oculogyric crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
ClinVar Annotator: match by OMIM:612953
OMIM
ClinVar
PMID:18570303 PMID:18981035 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21700586 PMID:24088041 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:30302010 PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678 PMID:19038853 PMID:20603184 PMID:23352116 PMID:24112787 PMID:25029497 PMID:25174650 PMID:25741868 PMID:27294386 PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
Parkinsonism-Dystonia, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism
CTD
ClinVar
PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16212992 PMID:17576681 PMID:18614672 PMID:19590515 PMID:20427663 PMID:22495311 PMID:23979605 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:25774383 PMID:26931468 PMID:27555326 PMID:28263315 PMID:28492532 PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar
PMID:19478460 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 PMID:25741436 PMID:25741868 PMID:28492532 PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2
ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease
ClinVar Annotator: match by term: Abnormal dense granules
ClinVar
OMIM
PMID:23363473 PMID:32581362 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:25741868 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Paroxysmal non-kinesigenic dyskinesia
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
ClinVar Annotator: match by term: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 PMID:15824259 PMID:16216955 PMID:16632198 PMID:17576681 PMID:19124534 PMID:20301400 PMID:21487022 PMID:22967746 PMID:25107857 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 PMID:28893297 NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24661410 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26598493 PMID:28074849 PMID:28492532 PMID:29334453 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
Segawa Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,534,217...214,607,497
Ensembl chr 1:214,534,284...214,606,169
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,918,757...214,940,883
Ensembl chr 1:214,927,172...214,947,624
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,476,418...214,511,569
Ensembl chr 1:214,476,387...214,511,529
Ensembl chr 1:214,476,387...214,511,529
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,439,810...214,445,876
Ensembl chr 1:214,440,503...214,445,874
Ensembl chr 1:214,440,503...214,445,874
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,030,429...215,043,111
Ensembl chr 1:215,030,429...215,033,460
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by synonym: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
ClinVar PMID:1530300 PMID:8852666 PMID:9667588 PMID:10984668 PMID:10987649 PMID:12391354 PMID:12552057 PMID:15303002 PMID:15753436 PMID:16917893 PMID:17044972 PMID:17898029 PMID:18044725 PMID:19332422 PMID:23430498 PMID:24993959 PMID:25497597 PMID:25741868 PMID:26467025 PMID:27313105 PMID:28492532 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,521,604...215,538,283
Ensembl chr 1:215,515,764...215,536,980
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency ClinVar PMID:12610512 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar PMID:12610512 PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30455893 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,126,994...215,127,583 JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,953,992...214,962,106
Ensembl chr 1:214,954,553...214,971,929
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,418,751...214,423,959
Ensembl chr 1:214,419,240...214,423,881
Ensembl chr 1:214,419,240...214,423,881
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,451,966...214,453,974 JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,428,280...214,430,551
Ensembl chr 1:214,428,526...214,430,515
Ensembl chr 1:214,428,526...214,430,515
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,605,408...215,607,602
Ensembl chr 1:215,605,404...215,607,696
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
ClinVar Annotator: match by OMIM:605407
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2019643 PMID:7814018 PMID:7910484 PMID:7964718 PMID:8528210 PMID:8817341 PMID:9235905 PMID:9536098 PMID:9703425 PMID:9732974 PMID:10407773 PMID:10585338 PMID:11160968 PMID:11246459 PMID:11281275 PMID:12610512 PMID:12891655 PMID:15468323 PMID:15505183 PMID:15747353 PMID:16643317 PMID:17576681 PMID:17696123 PMID:17698383 PMID:17698732 PMID:18554280 PMID:19120120 PMID:19282209 PMID:20056467 PMID:20198643 PMID:20399390 PMID:20430833 PMID:20492352 PMID:20823027 PMID:21937992 PMID:21940685 PMID:22264700 PMID:22572540 PMID:22583432 PMID:22815559 PMID:23480488 PMID:23939262 PMID:24033266 PMID:24275212 PMID:24753243 PMID:25224241 PMID:25741868 PMID:25758715 PMID:25910213 PMID:26276013 PMID:26467025 PMID:27165006 PMID:27185167 PMID:27619486 PMID:27934587 PMID:28087438 PMID:28186668 PMID:28492532 PMID:29225908 PMID:30455893 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,823,993...214,844,861
Ensembl chr 1:214,823,978...214,844,858
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:214,454,090...214,473,789
Ensembl chr 1:214,454,090...214,473,741
Ensembl chr 1:214,454,090...214,473,741
JBrowse link
sepiapterin reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
ClinVar Annotator: match by term: Sepiapterin reductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612716
OMIM
ClinVar
CTD
PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 PMID:16650784 PMID:16752391 PMID:16917893 PMID:17159114 PMID:18414213 PMID:18502672 PMID:19491146 PMID:21431957 PMID:21677200 PMID:22291068 PMID:22522443 PMID:23430877 PMID:24212389 PMID:25526675 PMID:25741868 PMID:28492532 NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
SIDDIQI SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: SIDDIQI SYNDROME OMIM
ClinVar
PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant
ClinVar Annotator: match by term: Dystonia 1, torsion, late-onset
ClinVar Annotator: match by term: Dystonia, early-onset atypical, with myoclonic features
OMIM
ClinVar
PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 PMID:19955557 PMID:24033266 PMID:24930953 PMID:24931141 PMID:25741868 PMID:27168150 PMID:28492532 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive
ClinVar Annotator: match by term: Torsion dystonia 2
ClinVar
OMIM
PMID:6115727 PMID:14694054 PMID:25799108 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24526230 PMID:24706558 PMID:24785942 PMID:24850488 PMID:25085639 PMID:25326635 PMID:25545912 PMID:25741868 PMID:26643067 PMID:28492532 PMID:28973395 PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar Annotator: match by term: Dystonia 6, torsion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602629
OMIM
ClinVar
CTD
PMID:19182804 PMID:19345147 PMID:19345148 PMID:19908320 PMID:20083799 PMID:20211909 PMID:20669277 PMID:20687191 PMID:20865765 PMID:21495072 PMID:21520283 PMID:21782490 PMID:21839475 PMID:21847143 PMID:22377579 PMID:22844099 PMID:22903657 PMID:23036512 PMID:24936516 PMID:24976531 PMID:25088175 PMID:25741868 PMID:26087139 PMID:26467025 PMID:26486352 PMID:26610312 PMID:27123488 PMID:28492532 PMID:28697333 PMID:29520331 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
torsion dystonia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
X-linked dystonia-parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
ClinVar Annotator: match by OMIM:314250
OMIM
ClinVar
PMID:17273961 PMID:25741868 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        Neurologic Manifestations 5296
          Dyskinesias 905
            dystonia 183
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 1
              DYSTONIA 28, CHILDHOOD-ONSET 1
              DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Juvenile-Onset Dystonia 1
              Leber hereditary optic neuropathy and dystonia 1
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
              Mitochondrial Dystonia 0
              Parkinson's disease 14 1
              Parkinsonism-Dystonia, Infantile + 2
              Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
              SIDDIQI SYNDROME 1
              Segawa Syndrome, Autosomal Recessive 41
              childhood onset GLUT1 deficiency syndrome 2 1
              deafness-dystonia-optic neuronopathy syndrome 1
              dystonia 12 2
              dystonia 21 0
              dystonia 5 2
              dystonia 9 1
              episodic kinesigenic dyskinesia 1 23
              episodic kinesigenic dyskinesia 2 0
              focal dystonia + 11
              generalized dystonia + 6
              hypermanganesemia with dystonia + 2
              multifocal dystonia + 6
              myoclonic dystonia + 5
              paroxysmal nonkinesigenic dyskinesia 1 3
              paroxysmal nonkinesigenic dyskinesia 2 0
              segmental dystonia + 4
              sepiapterin reductase deficiency 1
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                dystonia 183
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 1
                  DYSTONIA 28, CHILDHOOD-ONSET 1
                  DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Juvenile-Onset Dystonia 1
                  Leber hereditary optic neuropathy and dystonia 1
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Mitochondrial Dystonia 0
                  Parkinson's disease 14 1
                  Parkinsonism-Dystonia, Infantile + 2
                  Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                  SIDDIQI SYNDROME 1
                  Segawa Syndrome, Autosomal Recessive 41
                  childhood onset GLUT1 deficiency syndrome 2 1
                  deafness-dystonia-optic neuronopathy syndrome 1
                  dystonia 12 2
                  dystonia 21 0
                  dystonia 5 2
                  dystonia 9 1
                  episodic kinesigenic dyskinesia 1 23
                  episodic kinesigenic dyskinesia 2 0
                  focal dystonia + 11
                  generalized dystonia + 6
                  hypermanganesemia with dystonia + 2
                  multifocal dystonia + 6
                  myoclonic dystonia + 5
                  paroxysmal nonkinesigenic dyskinesia 1 3
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  segmental dystonia + 4
                  sepiapterin reductase deficiency 1
                  torsion dystonia 17 0
paths to the root