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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
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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;   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;   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;   dystonia disorders;   dystonic disease;   paroxysmal dystonia;   secondary dystonia;   secondary dystonias;   sporadic dystonia;   sporadic dystonias;   writer cramp;   writer's cramp;   writers cramp
 narrow_synonym: TSPOAP1-RELATED DYSTONIA;   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;   MIM:PS128100;   MIM:PS128200;   NCI:C34563
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 chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:25817843 PMID:26467025 PMID:28492532 PMID:32219868 NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472 		JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,188,058...75,311,825
Ensembl chr 7:75,219,779...75,307,577 		JBrowse link
G ANKRD53 ankyrin repeat domain 53 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,288,201...69,293,813
Ensembl chr10:69,286,164...69,298,600 		JBrowse link
G ANO3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr21:47,046,020...47,416,360
Ensembl chr21:47,045,978...47,410,908 		JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:76,336,502...76,368,695
Ensembl chr 7:76,336,547...76,367,267 		JBrowse link
G ARF3 ARF GTPase 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr27:5,610,078...5,629,169 JBrowse link
G ARFGEF3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:33098801 NCBI chr 1:30,482,375...30,658,706
Ensembl chr 1:30,527,870...30,652,027 		JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,157,945...54,163,557
Ensembl chr 9:54,158,052...54,163,372 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO DNA:insertions, deletion:intron, exons (mouse)
DNA:insertion:intron (rat) 		RGD PMID:14556008 PMID:16246457 RGD:1599348 RGD:5133436 NCBI chr20:55,610,124...55,641,879
Ensembl chr20:55,612,260...55,641,832 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:increased expression:cerebellar cortex RGD PMID:17092653 RGD:1599351 NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,103,937...117,116,779
Ensembl chr 1:117,103,620...117,116,778 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G AUP1 AUP1 lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,613,648...48,617,091
Ensembl chr17:48,613,725...48,616,728 		JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,319,943...55,323,429
Ensembl chr 9:55,319,952...55,323,609 		JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G BOLA3 bolA family member 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,941,730...48,952,327
Ensembl chr17:48,941,387...48,989,852 		JBrowse link
G C17H2orf78 chromosome 17 C2orf78 homolog ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,231,377...49,239,686
Ensembl chr17:49,231,149...49,238,621 		JBrowse link
G C17H2orf81 chromosome 17 C2orf81 homolog ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,704,515...48,717,648 JBrowse link
G C1H19orf12 chromosome 1 C19orf12 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 More... NCBI chr 1:121,823,827...121,838,242
Ensembl chr 1:121,758,236...121,766,652
Ensembl chr 1:121,758,236...121,766,652 		JBrowse link
G C9H9orf50 chromosome 9 C9orf50 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,175,921...54,183,333
Ensembl chr 9:54,176,106...54,183,239 		JBrowse link
G C9H9orf78 chromosome 9 C9orf78 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,009,543...54,016,154
Ensembl chr 9:54,009,611...54,015,898 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More...
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:20029458 PMID:25741868 PMID:28139025 NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014 		JBrowse link
G CCDC142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,655,347...48,662,609
Ensembl chr17:48,655,383...48,662,583 		JBrowse link
G CD207 CD207 molecule ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,186,698...69,190,289 JBrowse link
G CD22 CD22 molecule ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,261,730...117,285,775
Ensembl chr 1:117,261,740...117,284,818 		JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236 		JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:78,062,793...78,092,478
Ensembl chr 7:77,854,875...78,092,466 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,109,714...55,120,015
Ensembl chr 9:55,110,523...55,121,338 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,678,266...55,684,757
Ensembl chr 9:55,678,264...55,727,680 		JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:23222958 PMID:24405754 PMID:25817843 PMID:27123488 PMID:28492532 NCBI chr 7:77,500,378...77,503,092 JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19404753 NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,685,383...77,703,320
Ensembl chr 7:77,684,863...77,702,934 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22447717 PMID:25741868 More... NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		JBrowse link
G CLEC4F C-type lectin domain family 4 member F ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,170,393...69,179,578
Ensembl chr10:69,170,437...69,179,914 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,182,919...55,194,048
Ensembl chr 9:55,183,354...55,194,006 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More...
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions ClinVar PMID:25558065 PMID:25741868 PMID:26643207 PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702617 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:25741868 More... NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G DMKN dermokine ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,144,605...117,158,116
Ensembl chr 1:117,144,627...117,158,027 		JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G DOK1 docking protein 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,588,579...48,591,523
Ensembl chr17:48,589,023...48,591,721 		JBrowse link
G DOLK dolichol kinase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,712,920...54,715,005
Ensembl chr 9:54,713,239...54,714,849 		JBrowse link
G DOLPP1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,584,510...54,593,688
Ensembl chr 9:54,585,996...54,593,648 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,484,244...55,488,359
Ensembl chr 9:55,485,605...55,487,735 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591 		JBrowse link
G DRD2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8824240 PMID:9536098 PMID:10208638 PMID:17576681 PMID:25711927 More... NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G DUSP11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,245,476...49,261,774
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,930,039...54,953,752
Ensembl chr 9:54,930,054...54,953,751 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,449,384...55,483,472
Ensembl chr 9:55,449,627...55,480,653 		JBrowse link
G EGR4 early growth response 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,575,964...49,580,697
Ensembl chr17:49,575,466...49,578,251 		JBrowse link
G EMX1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G ENDOG endonuclease G ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,809,470...54,812,795
Ensembl chr 9:54,809,530...54,813,042 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G ETV2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,971,238...116,974,831
Ensembl chr 1:116,971,365...116,985,796 		JBrowse link
G EXOC6B exocyst complex component 6B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,986,330...50,607,658
Ensembl chr17:49,986,390...50,604,451 		JBrowse link
G FAM187B family with sequence similarity 187 member B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,343,725...117,366,946
Ensembl chr 1:117,362,123...117,366,945 		JBrowse link
G FBXO41 F-box protein 41 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,585,511...49,613,406
Ensembl chr17:49,599,488...49,609,166 		JBrowse link
G FFAR1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,257,005...117,258,799 JBrowse link
G FFAR2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,197,535...117,201,613
Ensembl chr 1:117,198,289...117,199,284 		JBrowse link
G FFAR3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,251,604...117,257,048 JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,148,938...69,170,371
Ensembl chr10:69,157,741...69,163,028 		JBrowse link
G FNBP1 formin binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,809,865...53,962,685
Ensembl chr 9:53,812,632...53,959,481 		JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028 		JBrowse link
G FUBP3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,317,955...53,370,040
Ensembl chr 9:53,317,438...53,370,112 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178 		JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,436,239...117,440,619
Ensembl chr 1:117,430,865...117,439,718 		JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,452,952...117,459,632
Ensembl chr 1:117,453,272...117,456,193 		JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,412,878...117,424,052
Ensembl chr 1:117,219,880...117,423,703 		JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,431,620...117,432,877 JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,121,290...117,129,159
Ensembl chr 1:117,121,293...117,129,164 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8619546 PMID:16199547 PMID:19491146 PMID:25741868 PMID:28492532 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420 		JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,024,673...55,059,297
Ensembl chr 9:55,024,679...55,059,220 		JBrowse link
G GLRA1 glycine receptor alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17114051 NCBI chr 4:57,443,094...57,541,494
Ensembl chr 4:57,443,999...57,528,376 		JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23222958 PMID:23449625 More... NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,234,836...55,251,698 JBrowse link
G GPR107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,729,249...53,809,821
Ensembl chr 9:53,733,748...53,809,652 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:94,729,828...95,006,244
Ensembl chr  X:94,730,943...95,004,279 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,990,549...117,001,275
Ensembl chr 1:116,991,803...117,001,508 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199 		JBrowse link
G HMCN2 hemicentin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,486,151...53,633,340
Ensembl chr 9:53,485,760...53,633,808 		JBrowse link
G HPN hepsin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,486,308...117,503,127
Ensembl chr 1:117,486,340...117,502,583 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,878,370...116,880,852
Ensembl chr 1:116,878,396...116,879,943 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G IER5L immediate early response 5 like ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,509,842...54,512,554
Ensembl chr 9:54,510,047...54,511,276 		JBrowse link
G IGFLR1 IGF like family receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,891,521...116,893,621
Ensembl chr 1:116,891,642...116,893,621 		JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,604,620...77,648,416
Ensembl chr 7:77,597,888...77,648,218 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972 		JBrowse link
G INO80B INO80 complex subunit B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,674,004...48,676,869 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 More... NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 PMID:33150406 NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,167,456...117,170,647
Ensembl chr 1:117,167,456...117,170,645 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,760,212...54,796,996
Ensembl chr 9:54,760,276...54,796,848 		JBrowse link
G LBX2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,641,630...48,643,411
Ensembl chr17:48,641,674...48,643,239 		JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,880,910...116,886,056
Ensembl chr 1:116,880,914...116,885,987 		JBrowse link
G LOC100856782 T-complex protein 1 subunit eta ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr34:37,026,053...37,027,839 JBrowse link
G LOC612644 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,960,851...116,969,415 JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,732,847...54,760,077
Ensembl chr 9:54,734,505...54,756,780 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,855,576...55,894,915
Ensembl chr 9:55,856,091...55,894,488 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,319,672...117,333,426
Ensembl chr 1:117,319,658...117,333,419 		JBrowse link
G MAG myelin associated glycoprotein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Childhood Onset Dystonias ClinVar PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:32445240 More... NCBI chr 2:71,369,768...71,400,499
Ensembl chr 2:71,369,806...71,400,499 		JBrowse link
G MIGA2 mitoguardin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,602,363...54,631,287
Ensembl chr 9:54,604,086...54,631,228 		JBrowse link
G MIR199-3 microRNA mir-199-3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,262,354...55,262,412
Ensembl chr 9:55,262,328...55,262,437 		JBrowse link
G MOB1A MOB kinase activator 1A ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,915,300...48,936,522
Ensembl chr17:48,915,346...48,933,303 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,666,220...48,670,848
Ensembl chr17:48,667,224...48,670,646 		JBrowse link
G MPHOSPH10 M-phase phosphoprotein 10 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 3:38,057,290...38,080,489
Ensembl chr 3:38,060,743...38,080,242 		JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,521,348...77,544,033
Ensembl chr 7:77,521,546...77,540,405 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G MRPL53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,663,271...48,666,078
Ensembl chr17:48,663,598...48,664,554 		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:25741868 PMID:26467025 PMID:28821228 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28027978 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24088041 PMID:26633545 PMID:34045482 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109 		JBrowse link
G MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,882,838...48,896,816
Ensembl chr17:48,883,724...48,941,949 		JBrowse link
G MUC15 mucin 15, cell surface associated ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr21:47,349,412...47,362,174
Ensembl chr21:47,350,825...47,362,149 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,367,477...51,376,461 JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,395,318...55,400,266
Ensembl chr 9:55,395,710...55,398,412 		JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:76,403,561...76,424,994
Ensembl chr 7:76,403,595...76,423,170 		JBrowse link
G NAT8 N-acetyltransferase 8 (putative) ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,285,915...49,288,362 JBrowse link
G NCS1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,661,361...53,676,925
Ensembl chr 9:53,672,910...53,676,910 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,802,010...55,853,960
Ensembl chr 9:55,802,014...55,852,540 		JBrowse link
G NOTO notochord homeobox ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26981555 PMID:28492532 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,163,708...54,172,906
Ensembl chr 9:54,164,098...54,172,688 		JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,657,520...54,712,900
Ensembl chr 9:54,657,682...54,712,827 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,060,437...55,096,363
Ensembl chr 9:55,060,157...55,096,364 		JBrowse link
G PAIP2B poly(A) binding protein interacting protein 2B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,381,891...51,388,964
Ensembl chr17:51,385,194...51,413,360 		JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:1734303 PMID:11479594 PMID:12058097 PMID:12510040 PMID:25741868 More... NCBI chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360 		JBrowse link
G PCGF1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,633,207...48,642,435
Ensembl chr17:48,633,332...48,635,554 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660 		JBrowse link
G PENK proenkephalin ISO mRNA:decreased expression:striatum: RGD PMID:22595488 RGD:10003100 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,717,430...54,730,383
Ensembl chr 9:54,717,434...54,729,533 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,490,881...55,499,755
Ensembl chr 9:55,490,942...55,498,891 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G PKN3 protein kinase N3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,880,654...54,891,474
Ensembl chr 9:54,879,806...54,891,358 		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 More... NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:4,775,702...4,925,027
Ensembl chr  X:4,874,240...4,924,976 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,524,483...75,582,850
Ensembl chr 7:75,525,249...75,583,553 		JBrowse link
G PRADC1 protease associated domain containing 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,633,772...49,649,450
Ensembl chr17:49,633,769...49,637,708 		JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,284,455...53,300,951
Ensembl chr 9:53,284,455...53,299,312
Ensembl chr 9:53,284,455...53,299,312 		JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,826,003...77,873,568
Ensembl chr 7:77,832,134...77,836,987 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612 		JBrowse link
G PROSER3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,868,631...116,877,986 JBrowse link
G PRRX2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,089,046...54,112,595
Ensembl chr 9:54,093,163...54,096,348 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,887,155...116,888,444
Ensembl chr 1:116,886,972...116,888,458 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:78,092,877...78,112,831
Ensembl chr 7:78,092,876...78,112,702 		JBrowse link
G PTGES prostaglandin E synthase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,343,424...55,349,349
Ensembl chr 9:55,343,424...55,348,959 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,535,186...54,568,632
Ensembl chr 9:54,536,180...54,566,235 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,676,605...55,678,442
Ensembl chr 9:55,676,622...55,678,434 		JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:4,185,144...4,325,866
Ensembl chr  X:4,247,982...4,325,870 		JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:25741868 NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,735,511...49,772,228
Ensembl chr17:49,735,097...49,803,741 		JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,678,896...75,807,716
Ensembl chr 7:75,678,908...75,817,426 		JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,461,220...75,511,860
Ensembl chr 7:75,461,222...75,510,229 		JBrowse link
G RBM42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,978,132...116,985,845
Ensembl chr 1:116,971,365...116,985,796 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18835386 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217 		JBrowse link
G RTKN rhotekin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,684,794...48,700,309
Ensembl chr17:48,685,089...48,699,966 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149 		JBrowse link
G SBSN suprabasin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,130,460...117,138,427 JBrowse link
G SCP2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494 		JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,896,464...54,907,698 JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G SFXN5 sideroflexin 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,773,446...49,896,373
Ensembl chr17:49,773,883...49,894,400 		JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,626,379...55,656,667
Ensembl chr 9:55,626,360...55,656,507 		JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,636,610...54,656,724
Ensembl chr 9:54,635,870...54,656,720 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,358,348...55,394,624
Ensembl chr 9:55,360,043...55,394,519 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,164,106...55,177,567
Ensembl chr 9:55,164,817...55,177,511 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540 		JBrowse link
G SLC4A5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,769,963...48,882,201
Ensembl chr17:48,797,807...48,880,441 		JBrowse link
G SMYD5 SMYD family member 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,638,436...49,650,231
Ensembl chr17:49,639,765...49,650,182 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,860,287...78,062,894
Ensembl chr 7:77,854,875...78,092,466 		JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,802,145...54,811,709
Ensembl chr 9:54,802,214...54,810,039 		JBrowse link
G SPR sepiapterin reductase susceptibility ISO DNA:deletion, transitions
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder 		RGD
ClinVar		 PMID:9536098 PMID:11443547 PMID:15241655 PMID:16697227 PMID:16752391 More... RGD:1600054 NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,499,100...55,513,562
Ensembl chr 9:55,504,639...55,513,174 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,520,083...55,533,205
Ensembl chr 9:55,520,109...55,532,055 		JBrowse link
G STAMBP STAM binding protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,194,810...49,221,017
Ensembl chr17:49,195,101...49,221,013 		JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:4,396,867...4,470,093
Ensembl chr  X:4,325,665...4,467,284 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,229,510...55,234,645
Ensembl chr 9:55,229,550...55,234,489 		JBrowse link
G TBC1D13 TBC1 domain family member 13 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,816,325...54,831,425
Ensembl chr 9:54,816,459...54,831,333 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
G TEX261 testis expressed 261 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,294,347...69,301,934 JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:7814018 PMID:8528210 PMID:8817341 PMID:9235905 PMID:9536098 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A susceptibility ISO DNA:mutation:exon; associated with deafness
DNA:deletion:cds:108delG(human) 		RGD PMID:11405816 PMID:11601506 RGD:13209134 RGD:1600152 NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		JBrowse link
G TLX2 T cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,625,008...48,627,085
Ensembl chr17:48,625,632...48,627,052 		JBrowse link
G TMEM147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,119,454...117,121,087
Ensembl chr 1:117,119,529...117,121,041 		JBrowse link
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9288096 PMID:9536098 PMID:11523564 PMID:12391338 PMID:12391355 More... NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680 		JBrowse link
G TOR1B torsin family 1 member B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,029,849...54,036,032
Ensembl chr 9:54,030,234...54,036,032 		JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,658,006...55,662,181
Ensembl chr 9:55,658,192...55,662,047 		JBrowse link
G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,194,123...55,203,881
Ensembl chr 9:55,194,024...55,203,477 		JBrowse link
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: TSPOAP1-related Dystonia ClinVar NCBI chr 9:32,949,912...32,972,830
Ensembl chr 9:32,950,906...32,973,982 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,662,119...55,676,283
Ensembl chr 9:55,658,147...55,676,212 		JBrowse link
G TTC31 tetratricopeptide repeat domain 31 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,647,765...48,655,413
Ensembl chr17:48,647,504...48,656,066 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,337,347...75,397,485
Ensembl chr 7:75,335,235...75,398,325 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,822,005...75,824,032
Ensembl chr 7:75,822,013...75,824,007 		JBrowse link
G U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,888,680...116,890,911
Ensembl chr 1:116,888,720...116,890,923 		JBrowse link
G UPK1A uroplakin 1A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,937,895...116,947,457
Ensembl chr 1:116,938,647...116,947,104 		JBrowse link
G URM1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:55,141,050...55,157,176
Ensembl chr 9:55,141,801...55,157,066 		JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:117,308,882...117,319,397
Ensembl chr 1:117,309,222...117,367,616 		JBrowse link
G USP20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:53,966,180...54,009,312
Ensembl chr 9:53,966,183...54,009,317 		JBrowse link
G VAPA VAMP associated protein A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 7:75,844,927...75,891,811
Ensembl chr 7:75,845,000...75,889,076 		JBrowse link
G VAX2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,252,926...69,262,225 JBrowse link
G WBP1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,671,039...48,673,817
Ensembl chr17:48,671,152...48,673,459 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
G WDR54 WD repeat domain 54 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,700,432...48,734,250
Ensembl chr17:48,700,431...48,704,344 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:116,914,597...116,923,923
Ensembl chr 1:116,914,606...116,917,107 		JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,877,188...54,880,579
Ensembl chr 9:54,877,110...54,880,553 		JBrowse link
G ZER1 zyg-11 related cell cycle regulator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:54,842,607...54,873,336
Ensembl chr 9:54,842,317...54,871,717 		JBrowse link
G ZNF638 zinc finger protein 638 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,251,517...51,318,758
Ensembl chr17:51,251,520...51,318,590 		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 susceptibility ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar
OMIM		 PMID:25741868 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr 3:69,394,304...69,588,462
Ensembl chr 3:69,394,152...69,595,802 		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:16337195 PMID:32906214 More... NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109 		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 CTD Direct Evidence: marker/mechanism
DNA:repeat 		CTD
RGD		 PMID:11781417 RGD:734899 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893 		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:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DRD5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893 		JBrowse link
childhood-onset dystonia 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 29, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | ClinVar Annotator: match by term: MECR-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 2:71,369,768...71,400,499
Ensembl chr 2:71,369,806...71,400,499 		JBrowse link
classic dopamine transporter deficiency syndrome 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: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		JBrowse link
DOPA-responsive dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CDKN3 cyclin dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:30,344,991...30,374,410
Ensembl chr 8:30,345,082...30,360,563 		JBrowse link
G CGRRF1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:30,419,716...30,449,616
Ensembl chr 8:30,419,772...30,448,577 		JBrowse link
G CNIH1 cornichon family AMPA receptor auxiliary protein 1 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:30,365,010...30,379,356
Ensembl chr 8:30,359,499...30,408,357 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | ClinVar Annotator: match by term: Dystonia-Parkinsonism with diurnal fluctuation OMIM
ClinVar		 PMID:1449240 PMID:7544125 PMID:7730309 PMID:7869202 PMID:7874165 More... NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G GMFB glia maturation factor beta ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:30,394,020...30,408,408
Ensembl chr 8:30,359,499...30,408,357 		JBrowse link
G SAMD4A sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr 8:30,476,425...30,687,240
Ensembl chr 8:30,476,418...30,687,240 		JBrowse link
G SPR sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417 		JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:18554280 PMID:20056467 PMID:24753243 PMID:25741868 PMID:28087438 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHRR aryl hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,820,119...11,865,681
Ensembl chr34:11,820,473...11,867,821 		JBrowse link
G BRD9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,541,005...11,564,760
Ensembl chr34:11,540,481...11,564,536 		JBrowse link
G CEP72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,639,794...11,684,041
Ensembl chr34:11,649,221...11,685,767 		JBrowse link
G CLPTM1L CLPTM1 like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436 		JBrowse link
G EXOC3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,790,927...11,811,566
Ensembl chr34:11,791,926...11,811,561 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164 		JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,162,715...11,195,380
Ensembl chr34:11,164,615...11,193,681 		JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,000,509...11,002,204 JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,447,895...11,468,067
Ensembl chr34:11,447,888...11,459,509 		JBrowse link
G PDCD6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,909,657...11,929,850
Ensembl chr34:11,909,934...11,929,855 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SLC12A7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,411,521...11,442,175
Ensembl chr34:11,411,626...11,440,957 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,312,172...11,327,493
Ensembl chr34:11,290,166...11,327,505 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,748,556...11,785,209
Ensembl chr34:11,748,175...11,785,786 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TPPP tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,633,054...11,645,585
Ensembl chr34:11,629,378...11,642,639 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,522,940...11,539,885
Ensembl chr34:11,522,940...11,539,885 		JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr34:11,567,784...11,614,975 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 OMIM
ClinVar		 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 More... NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:25741868 NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685 		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 chr36:22,090,094...22,101,230
Ensembl chr36:22,090,246...22,101,194 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G PLEKHA3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr36:22,101,111...22,130,273
Ensembl chr36:22,101,677...22,129,123 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16 | ClinVar Annotator: match by term: PRKRA-related condition OMIM
ClinVar		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
dystonia 22, adult-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:25741868 PMID:33539324 NCBI chr 9:32,949,912...32,972,830
Ensembl chr 9:32,950,906...32,973,982 		JBrowse link
dystonia 22, juvenile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, juvenile-onset OMIM
ClinVar		 PMID:33539324 NCBI chr 9:32,949,912...32,972,830
Ensembl chr 9:32,950,906...32,973,982 		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 ClinVar PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 9:47,813,625...48,009,532
Ensembl chr 9:47,816,393...48,009,406 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:25741868 NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		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 OMIM
ClinVar		 PMID:11009204 PMID:23200863 PMID:25741868 PMID:27392807 PMID:27666935 More... NCBI chr21:47,046,020...47,416,360
Ensembl chr21:47,045,978...47,410,908 		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 term: GNAL-related condition OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:24535567 More... NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042 		JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:15689448 PMID:18378883 PMID:18414213 More... NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
dystonia 28, childhood-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Dystonia 28, childhood-onset ClinVar PMID:25326635 PMID:25741868 PMID:28492532 PMID:33005041 PMID:33465815 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28492532 More... NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472 		JBrowse link
dystonia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-related condition ClinVar PMID:25741868 NCBI chr24:18,224,355...18,395,650
Ensembl chr24:18,224,801...18,296,350 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27174565 PMID:28492532 PMID:32808683 NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510 		JBrowse link
dystonia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Dystonia 31 OMIM
ClinVar		 PMID:25741868 PMID:34596301 NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		JBrowse link
dystonia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692 		JBrowse link
dystonia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2A eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Dystonia 33 ClinVar PMID:25741868 NCBI chr23:45,202,663...45,235,559
Ensembl chr23:45,202,022...45,235,559 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO ClinVar Annotator: match by term: Dystonia 33 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33236446 PMID:33866603 PMID:35146068 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933 		JBrowse link
dystonia 35, childhood-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor ISO ClinVar Annotator: match by term: Dystonia 35, childhood-onset OMIM
ClinVar		 PMID:25553844 PMID:25741868 PMID:34542157 PMID:36416405 NCBI chr20:19,304,839...19,406,662
Ensembl chr20:19,304,934...19,405,950 		JBrowse link
dystonia 37, early-onset with striatal lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP54 nucleoporin 54 ISO ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions OMIM
ClinVar		 PMID:25741868 PMID:36333996 NCBI chr32:751,568...782,342
Ensembl chr32:751,982...782,314 		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: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 OMIM
ClinVar		 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 More... NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr36:19,131,184...19,134,350 JBrowse link
Episodic Kinesigenic Dyskinesia 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: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 PMID:28492532 PMID:34305802 PMID:39825153 NCBI chr27:39,928,347...39,936,753
Ensembl chr27:39,933,825...39,935,312 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:2825199 PMID:9536098 PMID:11179027 PMID:11346027 More... NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738 		JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068 		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:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: DYSTONIA, FAMILIAL PAROXYSMAL | ClinVar Annotator: match by term: Dystonia 10 | ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Paroxysmal kinesigenic choreoathetosis | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia OMIM
ClinVar		 PMID:2131349 PMID:2825199 PMID:11179027 PMID:11346027 PMID:14615364 More... NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738 		JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068 		JBrowse link
episodic kinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 OMIM
ClinVar		 PMID:34518509 PMID:34820915 PMID:34970790 PMID:35587630 PMID:35727387 More... NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181 		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 ISO MouseDO NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680 		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:5996915 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 More... NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO MouseDO NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
glucose transporter type 1 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: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia OMIM
ClinVar		 PMID:2344855 PMID:9462754 PMID:9536098 PMID:10227690 PMID:10980529 More... NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		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 ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis | ClinVar Annotator: match by term: SLC30A10-related condition OMIM
ClinVar		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22934317 More... NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540 		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 Annotator: match by term: SLC39A14-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 PMID:28541650 PMID:29498153 More... NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695 		JBrowse link
infantile parkinsonism-dystonia 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: Brain dopamine-serotonin vesicular transport disease | ClinVar Annotator: match by term: SLC18A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993 		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:2786228 PMID:9714430 PMID:12325076 PMID:16685646 PMID:19252504 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		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: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 PMID:39825153 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		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: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16685654 PMID:17576681 PMID:25741868 More... NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		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 chr21:50,114,251...50,120,070
Ensembl chr21:50,115,506...50,117,506 		JBrowse link
myoclonic dystonia 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 | ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome ClinVar PMID:9750929 PMID:11528394 PMID:12821748 PMID:12874409 PMID:15079037 More... NCBI chr14:19,975,393...20,026,705
Ensembl chr14:19,977,088...20,025,712 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:27,439,280...27,447,961
Ensembl chr10:27,443,180...27,447,712 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome ClinVar PMID:9750929 PMID:11528394 PMID:12821748 PMID:12874409 PMID:15079037 More... NCBI chr14:20,052,778...20,121,252
Ensembl chr14:20,052,776...20,121,193 		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 Annotator: match by term: SGCE-related condition ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr14:19,975,393...20,026,705
Ensembl chr14:19,977,088...20,025,712 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		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 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 | ClinVar Annotator: match by term: SGCE-related condition OMIM
ClinVar		 PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr14:20,052,778...20,121,252
Ensembl chr14:20,052,776...20,121,193 		JBrowse link
myoclonic dystonia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,794,405...26,806,116
Ensembl chr10:26,794,426...26,806,131 		JBrowse link
G BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,560,328...26,587,654
Ensembl chr10:26,560,494...26,574,052 		JBrowse link
G C10H22orf23 chromosome 10 C22orf23 homolog ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,707,503...26,714,808
Ensembl chr10:26,707,506...26,714,823 		JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,340,547...27,349,183
Ensembl chr10:27,340,623...27,348,494 		JBrowse link
G CARD10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,055,293...27,080,109
Ensembl chr10:27,053,915...27,079,341 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,125,064...26,134,693
Ensembl chr10:26,125,189...26,128,285 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,016,415...27,020,700
Ensembl chr10:27,017,077...27,019,582 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,495,451...27,510,203
Ensembl chr10:27,494,157...27,510,199 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624 		JBrowse link
G CYTH4 cytohesin 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,238,028...27,268,759
Ensembl chr10:27,239,405...27,268,823 		JBrowse link
G DDX17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,282,592...26,303,128
Ensembl chr10:26,282,598...26,301,633 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,228,662...26,265,377
Ensembl chr10:26,230,428...26,264,820 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,757,639...26,784,908
Ensembl chr10:26,757,639...26,785,008 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,185,104...27,191,461
Ensembl chr10:27,185,504...27,187,594 		JBrowse link
G FAM227A family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,134,876...26,228,245
Ensembl chr10:26,139,315...26,213,928 		JBrowse link
G GALR3 galanin receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,814,942...26,819,725
Ensembl chr10:26,814,942...26,816,727 		JBrowse link
G GCAT glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,972,763...26,991,772
Ensembl chr10:26,972,760...26,991,689 		JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,074,969...26,103,520
Ensembl chr10:26,075,169...26,100,511 		JBrowse link
G H1-0 H1.0 linker histone ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,827,748...26,829,909
Ensembl chr10:26,829,089...26,829,673 		JBrowse link
G IFT27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,688,742...27,707,343
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775 		JBrowse link
G JOSD1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,103,874...26,115,728
Ensembl chr10:26,104,898...26,113,733 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,321,274...26,348,978
Ensembl chr10:26,347,140...26,348,486 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 OMIM
ClinVar		 PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr10:27,439,280...27,447,961
Ensembl chr10:27,443,180...27,447,712 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,303,177...26,315,838
Ensembl chr10:26,297,635...26,315,826 		JBrowse link
G LGALS1 galectin 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646 		JBrowse link
G LGALS2 galectin 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,012,534...27,015,935
Ensembl chr10:27,010,550...27,015,935 		JBrowse link
G MAFF MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,475,478...26,486,109
Ensembl chr10:26,476,851...26,485,931 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,082,616...27,098,994
Ensembl chr10:27,082,789...27,098,617 		JBrowse link
G MICALL1 MICAL like 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,715,572...26,738,326
Ensembl chr10:26,717,322...26,738,850 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261 		JBrowse link
G NOL12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,919,771...26,926,547 JBrowse link
G PDXP pyridoxal phosphatase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,945,751...26,952,234
Ensembl chr10:26,946,838...26,952,217 		JBrowse link
G PICK1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,595,301...26,614,170
Ensembl chr10:26,595,768...26,613,756 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G PVALB parvalbumin ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,655,896...27,674,309
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,953,993...26,966,417
Ensembl chr10:26,954,137...26,966,417 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,589,236...26,593,703
Ensembl chr10:26,589,236...26,593,483 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G SSTR3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,324,067...27,332,570
Ensembl chr10:27,329,174...27,330,451 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,055,508...26,074,972
Ensembl chr10:26,055,536...26,074,434 		JBrowse link
G TMEM184B transmembrane protein 184B ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,424,014...26,473,885
Ensembl chr10:26,448,632...26,471,680 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,393,650...27,435,893
Ensembl chr10:27,397,123...27,435,908 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,116,635...26,118,692 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr10:27,474,101...27,486,603
Ensembl chr10:27,473,764...27,486,575 		JBrowse link
myoclonic dystonia 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Dystonia 34, myoclonic OMIM
ClinVar		 PMID:25741868 PMID:32212350 NCBI chr11:4,279,362...4,423,080
Ensembl chr11:4,154,746...4,423,078 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE3C ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr16:19,590,115...19,716,664
Ensembl chr16:19,589,172...19,777,260 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures OMIM
ClinVar		 PMID:25741868 PMID:34542157 PMID:36847845 NCBI chr20:19,304,839...19,406,662
Ensembl chr20:19,304,934...19,405,950 		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:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		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: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET OMIM
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695 		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: Parkinsonian-pyramidal syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr10:30,928,059...30,948,858
Ensembl chr10:30,928,329...30,948,977 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAMP angio associated migratory cell protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887 		JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824 		JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885 		JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 OMIM
ClinVar		 PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:16199547 PMID:28492532 NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137 		JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLG5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr 4:27,687,223...27,780,007
Ensembl chr 4:27,687,287...27,806,722 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr27:39,928,347...39,936,753
Ensembl chr27:39,933,825...39,935,312 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar
OMIM		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		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: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome OMIM
ClinVar		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr 6:38,531,547...38,557,472 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 chr18:45,269,962...45,358,020
Ensembl chr18:45,253,772...45,358,018 		JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,394,034...46,396,723
Ensembl chr18:46,395,391...46,395,975 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,666,489...45,688,950
Ensembl chr18:45,628,970...45,689,494 		JBrowse link
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,195,875...45,200,066
Ensembl chr18:45,196,237...45,200,081 		JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,466,484...46,474,236
Ensembl chr18:46,466,499...46,473,868 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,860,636...46,861,697 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 chr18:25,782,012...25,783,897 JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,226,860...45,253,425
Ensembl chr18:45,226,865...45,256,750 		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 chr18:45,188,527...45,194,077
Ensembl chr18:45,190,250...45,194,038 		JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069 		JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,791,878...45,809,996
Ensembl chr18:45,794,330...45,809,996 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:25,766,688...25,777,075 JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive ClinVar PMID:1449240 PMID:8298648 PMID:8852666 PMID:9566389 PMID:9667588 More... NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,998,672...46,008,494
Ensembl chr18:45,999,103...46,006,202 		JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 More... NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G LOC100855904 mucin-6 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,359,412...45,376,678 JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,087,886...46,127,307
Ensembl chr18:46,087,922...46,127,263 		JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,698,096...45,776,402
Ensembl chr18:45,682,790...45,776,349 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,166,698...46,173,480 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 chr18:45,416,347...45,438,226 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 chr18:45,471,232...45,498,961 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 chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184 		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 chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107 		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 chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268 		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 chr18:45,201,194...45,203,825 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 chr18:45,176,539...45,178,270 JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,069,380...46,075,477
Ensembl chr18:46,072,495...46,075,480 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:25,764,138...25,772,043 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: Autosomal recessive DOPA responsive dystonia | ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive | ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive 		OMIM
ClinVar		 PMID:2019643 PMID:7789962 PMID:7814018 PMID:7910484 PMID:7964718 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:25,733,400...25,739,682 JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,076,816...46,079,362
Ensembl chr18:46,077,581...46,079,361 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,131,925...46,148,577
Ensembl chr18:46,074,700...46,149,131 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,559,385...45,578,467
Ensembl chr18:45,560,681...45,578,449 		JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,479,397...46,493,279
Ensembl chr18:46,478,759...46,498,043 		JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,422,499...46,438,512
Ensembl chr18:46,422,259...46,437,272 		JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:45,220,763...45,224,981
Ensembl chr18:45,203,620...45,224,674 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr18:46,476,168...46,478,651
Ensembl chr18:46,477,427...46,478,389 		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: SPR deficiency OMIM
ClinVar		 PMID:9536098 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 More... NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417 		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: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr24:31,810,511...31,814,547
Ensembl chr24:31,810,263...31,814,870 		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 OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680 		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: HPCA-related condition | ClinVar Annotator: match by term: Torsion dystonia 2 OMIM
ClinVar		 PMID:6115727 PMID:14694054 PMID:25741868 PMID:25799108 PMID:28492532 NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310 		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: TUBB4A-related condition | ClinVar Annotator: match by term: Torsion dystonia 4 OMIM
ClinVar		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349 		JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226 		JBrowse link
G AP3M2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,500,988...23,518,193
Ensembl chr16:23,454,325...23,518,193 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,302,124...23,304,824
Ensembl chr16:23,302,320...23,304,834 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,640,912...22,683,733
Ensembl chr16:22,642,289...22,683,879 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252 		JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,469,590...23,496,013 JBrowse link
G POLB DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322 		JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775 		JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582 		JBrowse link
G VDAC3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:23,276,763...23,289,752
Ensembl chr16:23,276,767...23,289,752 		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 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		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: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism OMIM
ClinVar		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:55,693,091...55,764,268
Ensembl chr  X:55,693,194...55,763,683 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      nervous system disease 13505
        Neurologic Manifestations 10001
          Dyskinesias 2167
            dystonia 495
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 1
              DOPA-responsive dystonia 9
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Episodic Kinesigenic Dyskinesia + 25
              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
              NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES 1
              Parkinson's disease 14 2
              Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
              Segawa Syndrome, Autosomal Recessive 46
              Siddiqi syndrome 1
              childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
              deafness-dystonia-optic neuronopathy syndrome 2
              dopamine transporter deficiency syndrome + 23
              dystonia 12 3
              dystonia 21 0
              dystonia 22, adult-onset 1
              dystonia 22, juvenile-onset 1
              dystonia 28, childhood-onset 2
              dystonia 30 2
              dystonia 31 1
              dystonia 32 1
              dystonia 33 2
              dystonia 35, childhood-onset 1
              dystonia 37, early-onset with striatal lesions 1
              dystonia 9 1
              early-onset dystonia and/or spastic paraplegia 1
              episodic kinesigenic dyskinesia 3 1
              focal dystonia + 11
              generalized dystonia + 25
              glucose transporter type 1 deficiency syndrome 2 1
              hypermanganesemia with dystonia + 2
              multifocal dystonia + 6
              myoclonic dystonia + 56
              paroxysmal nonkinesigenic dyskinesia 1 51
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
              segmental dystonia + 1
              sepiapterin reductase deficiency 1
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      nervous system disease 13505
        central nervous system disease 12081
          brain disease 11347
            movement disease 2552
              Dyskinesias 2167
                dystonia 495
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 1
                  DOPA-responsive dystonia 9
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Episodic Kinesigenic Dyskinesia + 25
                  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
                  NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES 1
                  Parkinson's disease 14 2
                  Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                  Segawa Syndrome, Autosomal Recessive 46
                  Siddiqi syndrome 1
                  childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
                  deafness-dystonia-optic neuronopathy syndrome 2
                  dopamine transporter deficiency syndrome + 23
                  dystonia 12 3
                  dystonia 21 0
                  dystonia 22, adult-onset 1
                  dystonia 22, juvenile-onset 1
                  dystonia 28, childhood-onset 2
                  dystonia 30 2
                  dystonia 31 1
                  dystonia 32 1
                  dystonia 33 2
                  dystonia 35, childhood-onset 1
                  dystonia 37, early-onset with striatal lesions 1
                  dystonia 9 1
                  early-onset dystonia and/or spastic paraplegia 1
                  episodic kinesigenic dyskinesia 3 1
                  focal dystonia + 11
                  generalized dystonia + 25
                  glucose transporter type 1 deficiency syndrome 2 1
                  hypermanganesemia with dystonia + 2
                  multifocal dystonia + 6
                  myoclonic dystonia + 56
                  paroxysmal nonkinesigenic dyskinesia 1 51
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
                  segmental dystonia + 1
                  sepiapterin reductase deficiency 1
                  torsion dystonia 17 0
paths to the root