Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:dystonia
go back to main search page
Accession:DOID:543 term browser browse the term
Definition:A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)
Synonyms:exact_synonym: Autosomal Recessive Familial Dystonia;   Childhood Onset Dystonia;   Dystonia Disorder;   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;   NCI:C34563;   OMIM:PS128100;   OMIM:PS128200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646
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 chr2A:73,966,939...73,993,862
Ensembl chr2A:75,476,877...75,503,658 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:26467025 PMID:28492532 PMID:32219868 NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr 6:24,332,093...24,370,764
Ensembl chr 6:24,665,026...24,705,151 		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 chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:5,002,212...5,153,112
Ensembl chr18:7,287,287...7,385,041 		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 chr2A:71,041,283...71,050,091
Ensembl chr2A:72,156,178...72,163,202 		JBrowse link
G ANKRD62 ankyrin repeat domain 62 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:2,191,716...2,231,178
Ensembl chr18:4,456,082...4,493,924 		JBrowse link
G ANO3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666935 More... NCBI chr11:26,287,123...26,618,710
Ensembl chr11:26,047,200...26,519,646 		JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:3,799,425...3,834,557
Ensembl chr18:6,083,649...6,117,276 		JBrowse link
G ARF3 ADP ribosylation factor 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr12:39,793,228...39,814,571
Ensembl chr12:40,674,277...40,694,594 		JBrowse link
G ARFGEF3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:33098801 NCBI chr 6:135,916,799...136,100,287
Ensembl chr 6:140,010,542...140,179,197 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO DNA:insertion:intron (rat)
DNA:insertions, deletion:intron, exons (mouse)		 RGD PMID:14556008 PMID:16246457 RGD:1599348 RGD:5133436 NCBI chr19:2,905,615...2,953,079
Ensembl chr19:3,854,423...3,900,175 		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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:increased expression:cerebellar cortex RGD PMID:17092653 RGD:1599351 NCBI chr 1:179,231,712...179,348,759
Ensembl chr 1:183,580,773...183,639,882 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,496,614...32,510,649
Ensembl chr19:41,234,052...41,248,628 		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 chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612 		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 chr2A:74,593,260...74,596,372
Ensembl chr2A:76,099,634...76,102,464 		JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		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 chr2A:74,207,111...74,219,705
Ensembl chr2A:75,715,161...75,727,622 		JBrowse link
G C12H2orf78 chromosome 12 C2orf78 homolog ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:73,880,051...73,888,551
Ensembl chr2A:75,379,831...75,397,700 		JBrowse link
G C12H2orf81 chromosome 12 C2orf81 homolog ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:74,480,820...74,488,353
Ensembl chr2A:75,985,181...75,990,074 		JBrowse link
G C20H19orf12 chromosome 20 C19orf12 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 More... NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408 		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... NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342 		JBrowse link
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:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570 		JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515 		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 chr2A:70,893,068...70,898,668
Ensembl chr2A:72,006,822...72,012,421 		JBrowse link
G CD22 CD22 molecule ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,265,278...32,294,122
Ensembl chr19:41,012,222...41,030,713 		JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269 		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 chr18:2,452,393...2,455,509 JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19404753 NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005 		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 chr18:2,051,880...2,075,909 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 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		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 chr2A:70,872,242...70,883,547
Ensembl chr2A:71,985,814...71,997,123 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:124,554,478...124,644,482 JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr21:30,030,359...30,032,899 JBrowse link
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 chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433 		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 chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474 		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 chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
G DMKN dermokine ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,443,920...32,460,473 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 chr2A:74,615,542...74,624,183
Ensembl chr2A:76,126,749...76,130,162 		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 chr2A:74,584,797...74,592,872
Ensembl chr2A:76,091,342...76,099,110 		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 chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935 		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 chr2A:73,823,262...73,841,600
Ensembl chr2A:75,358,695...75,375,785 		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 chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846 		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 chr2A:73,343,705...73,346,476
Ensembl chr2A:74,831,326...74,834,246 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:181,170,806...181,180,923
Ensembl chr 3:189,652,554...189,665,528 		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... NCBI chr2A:72,969,693...73,030,427 JBrowse link
G ETV2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,571,829...32,575,083
Ensembl chr19:41,307,864...41,311,004 		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 chr2A:72,225,310...72,878,506
Ensembl chr2A:73,723,392...74,371,820 		JBrowse link
G FAM187B family with sequence similarity 187 member B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,171,403...32,175,555
Ensembl chr19:40,908,973...40,912,882 		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 chr2A:73,307,478...73,337,242
Ensembl chr2A:74,800,490...74,811,075 		JBrowse link
G FFAR1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,298,259...32,300,601
Ensembl chr19:41,034,905...41,035,807 		JBrowse link
G FFAR2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,394,401...32,398,730
Ensembl chr19:41,132,599...41,133,591 		JBrowse link
G FFAR3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,305,112...32,307,223 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 chr2A:70,840,305...70,853,542
Ensembl chr2A:71,954,124...71,967,339 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327 		JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,080,180...32,089,141
Ensembl chr19:40,824,448...40,827,039 		JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,036,936...32,070,374 JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,100,475...32,115,826
Ensembl chr19:40,839,798...40,854,027 		JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,089,090...32,100,331
Ensembl chr19:40,827,468...40,838,549 		JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,479,559...32,491,959
Ensembl chr19:41,216,758...41,228,750 		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 chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr 1:203,551,556...203,561,702 JBrowse link
G GLRA1 glycine receptor alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17114051 NCBI chr 5:147,245,741...147,348,555
Ensembl chr 5:153,248,488...153,350,567 		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:17576681 PMID:23222958 PMID:23449625 PMID:23759320 More... NCBI chr18:2,420,578...2,615,947 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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		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:112,380,229...112,687,740
Ensembl chr  X:122,562,330...122,870,130 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,542,957...32,554,284
Ensembl chr19:41,241,367...41,290,718 		JBrowse link
G HPN hepsin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:31,985,761...32,012,841
Ensembl chr19:40,725,319...40,750,628 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,684,355...32,686,833
Ensembl chr19:41,419,608...41,420,972 		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 chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152 		JBrowse link
G IGFLR1 IGF like family receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,669,012...32,672,393 JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676 		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 chr2A:74,521,624...74,524,578
Ensembl chr2A:76,027,621...76,030,549 		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... Ensembl chr20:61,325,365...61,395,266 JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 PMID:33150406 NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,434,016...32,437,611
Ensembl chr19:41,170,227...41,173,441 		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 chr2A:74,563,221...74,569,990
Ensembl chr2A:76,070,437...76,075,778 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,070,563...32,082,273
Ensembl chr19:40,808,847...40,827,024 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,678,141...32,684,305
Ensembl chr19:41,412,809...41,418,563 		JBrowse link
G LOC100971190 putative N-acetyltransferase 8B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:73,761,907...73,763,964
Ensembl chr2A:75,297,531...75,298,213 		JBrowse link
G LOC100972703 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,578,126...32,588,684
Ensembl chr19:41,314,020...41,324,489 		JBrowse link
G LOC100976978 E3 ubiquitin-protein ligase HERC2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074 		JBrowse link
G LOC100988273 cytochrome P450 2D6-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702617 NCBI chr22:23,022,449...23,031,627 JBrowse link
G LOC100988969 large ribosomal subunit protein mL53 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:74,538,684...74,549,677
Ensembl chr2A:76,046,330...76,056,586
Ensembl chr2A:76,046,330...76,056,586 		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 chr2A:74,598,870...74,622,502
Ensembl chr2A:76,105,957...76,128,495 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,195,036...32,214,300
Ensembl chr19:40,932,180...40,951,448 		JBrowse link
G MAG myelin associated glycoprotein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401 		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 chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401 		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 chr2A:74,224,304...74,250,863
Ensembl chr2A:75,732,212...75,757,749 		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 chr2A:74,527,710...74,532,319
Ensembl chr2A:76,033,692...76,038,561 		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 chr2A:71,176,704...71,196,443
Ensembl chr2A:72,677,428...72,697,592 		JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:2,397,423...2,423,209
Ensembl chr18:4,662,348...4,686,262 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		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 chr2A:74,270,161...74,285,790
Ensembl chr2A:75,777,028...75,792,699 		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 chr11:26,514,388...26,527,567
Ensembl chr11:26,415,525...26,422,409 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319 		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 chr2A:71,114,832...71,125,182
Ensembl chr2A:72,616,077...72,626,435 		JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:3,737,245...3,764,064
Ensembl chr18:6,020,592...6,047,429 		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 chr2A:73,702,173...73,703,763
Ensembl chr2A:75,189,726...75,190,409 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18788921 PMID:24555207 PMID:25741868 PMID:27066577 PMID:28492532
G NOTO notochord homeobox ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:73,254,440...73,265,315
Ensembl chr2A:74,744,181...74,752,950 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26981555 PMID:28492532 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		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 chr2A:71,227,562...71,271,642
Ensembl chr2A:72,733,750...72,772,036 		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 chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748 		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 chr2A:74,571,721...74,574,468
Ensembl chr2A:76,077,962...76,080,720 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr11:67,653,335...67,753,450
Ensembl chr11:70,875,552...70,975,322 		JBrowse link
G PENK proenkephalin ISO mRNA:decreased expression:striatum: RGD PMID:22595488 RGD:10003100 NCBI chr 8:52,864,388...52,870,144
Ensembl chr 8:50,234,170...50,239,949 		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 chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355 		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 chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:28492532 NCBI chr2B:65,708,635...65,725,766
Ensembl chr2B:183,413,265...183,423,224 		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 chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 Ensembl chr  X:7,756,047...7,786,634 JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,671,010...4,742,301
Ensembl chr18:6,974,934...7,022,996 		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 chr2A:73,280,791...73,286,879
Ensembl chr2A:74,769,555...74,775,787 		JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:1,895,635...1,920,455
Ensembl chr18:17,006,556...17,021,984 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr2B:65,689,029...65,708,493
Ensembl chr2B:183,393,819...183,413,174 		JBrowse link
G PROSER3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,687,750...32,701,198
Ensembl chr19:41,422,177...41,431,928 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,675,331...32,677,285
Ensembl chr19:41,409,662...41,411,089 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531 		JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 Ensembl chr  X:6,909,397...6,964,359 JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:25741868 NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870 		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 chr2A:73,126,262...73,165,892
Ensembl chr2A:74,620,821...74,657,419 		JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,424,677...4,578,263
Ensembl chr18:6,710,174...6,859,896 		JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934 		JBrowse link
G RBM42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,559,215...32,567,899
Ensembl chr19:41,294,818...41,303,817 		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 chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420 		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 chr2A:74,492,520...74,509,037
Ensembl chr2A:75,998,494...76,015,046 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		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 chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539 		JBrowse link
G SBSN suprabasin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,470,103...32,475,368 JBrowse link
G SCP2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 1:52,195,491...52,324,227
Ensembl chr 1:53,797,254...53,924,939 		JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 6:156,009,815...156,067,675
Ensembl chr 6:158,068,838...158,126,603 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		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 chr2A:72,994,664...73,125,483 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 chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228 		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 chr2A:74,288,481...74,428,014
Ensembl chr2A:75,798,510...75,888,448 		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 chr2A:73,267,007...73,280,006
Ensembl chr2A:74,755,794...74,768,776 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:1,663,614...1,881,357
Ensembl chr18:16,800,870...16,992,959 		JBrowse link
G SPR sepiapterin reductase susceptibility ISO DNA:deletion, transitions
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder		 RGD
ClinVar		 PMID:9536098 PMID:11443547 PMID:16697227 PMID:16752391 PMID:16917893 More... RGD:1600054 NCBI chr2A:72,939,621...72,944,669
Ensembl chr2A:74,433,056...74,438,105 		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 chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086 		JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 Ensembl chr  X:7,047,017...7,207,540 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 chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701 		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 chr2A:71,050,226...71,060,643
Ensembl chr2A:72,163,645...72,172,498 		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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A susceptibility ISO DNA:deletion:cds:108delG(human)
DNA:mutation:exon; associated with deafness		 RGD PMID:11405816 PMID:11601506 RGD:13209134 RGD:1600152 NCBI chr  X:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544 		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 chr2A:74,581,111...74,583,425
Ensembl chr2A:76,087,113...76,089,324 		JBrowse link
G TMEM147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,492,030...32,493,944
Ensembl chr19:41,229,033...41,230,960 		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 9:100,940,554...100,951,726 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 chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		JBrowse link
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: TSPOAP1-related Dystonia ClinVar NCBI chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		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 chr2A:74,549,680...74,563,164
Ensembl chr2A:76,056,437...76,067,481 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:1,998,428...2,020,202 JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,883,688...4,950,963
Ensembl chr18:7,164,091...7,229,271 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,397,565...4,401,236 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 chr19:32,672,304...32,675,256
Ensembl chr19:41,406,661...41,409,548 		JBrowse link
G UPK1A uroplakin 1A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,596,034...32,608,228 JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,215,305...32,226,172 JBrowse link
G VAPA VAMP associated protein A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:4,329,479...4,373,047
Ensembl chr18:6,612,105...6,637,829 		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 chr2A:70,964,829...70,997,702
Ensembl chr2A:72,078,829...72,111,463 		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 chr2A:74,524,722...74,527,536 JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960 		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 chr2A:74,488,345...74,492,392
Ensembl chr2A:75,994,394...75,998,385 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:32,633,923...32,647,675
Ensembl chr19:41,369,043...41,381,634 		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 chr2A:71,321,110...71,476,737
Ensembl chr2A:72,878,675...72,976,090 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527 		JBrowse link
blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD5 dopamine receptor D5 ISO DNA:repeat
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11781417 RGD:734899 NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527 		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 chr 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G DRD5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		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, childhood-onset, with optic atrophy and basal ganglia abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 1:28,463,466...28,501,518
Ensembl chr 1:29,490,318...29,527,704 		JBrowse link
childhood-onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: 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 ClinVar
OMIM		 PMID:2344855 PMID:9462754 PMID:9536098 PMID:10227690 PMID:10980529 More... NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		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... Ensembl chr 5:1,437,567...1,488,829 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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chr  X:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544 		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 Ensembl chr 5:436,542...567,310 JBrowse link
G BRD9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532
G CEP72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:733,647...772,323 JBrowse link
G CLPTM1L CLPTM1 like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,361,571...1,388,415 JBrowse link
G EXOC3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:568,471...596,723 JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,929,977...1,939,622 JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,503,853...1,544,741 JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711 		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 Ensembl chr 5:1,075,172...1,081,664 JBrowse link
G PDCD6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532
G SLC12A7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,094,769...1,147,759 JBrowse link
G SLC6A18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,272,746...1,293,181 JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,248,802...1,272,508 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... Ensembl chr 5:1,437,567...1,488,829 JBrowse link
G SLC9A3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TPPP tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 Ensembl chr 5:779,090...797,979 JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532
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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:25741868 NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		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 chr2B:65,721,439...65,736,351
Ensembl chr2B:183,425,612...183,440,522 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:28492532 NCBI chr2B:65,708,635...65,725,766
Ensembl chr2B:183,413,265...183,423,224 		JBrowse link
G PLEKHA3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr2B:65,738,043...65,774,021
Ensembl chr2B:183,442,408...183,466,628 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16 OMIM
ClinVar		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr2B:65,689,029...65,708,493
Ensembl chr2B:183,393,819...183,413,174 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr2B:65,783,512...66,064,618 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:33539324 NCBI chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		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 chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		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 9:108,989,621...109,256,841 JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:25741868 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		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:27666935 PMID:28492532 More... NCBI chr11:26,287,123...26,618,710
Ensembl chr11:26,047,200...26,519,646 		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 OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:25741868 More... NCBI chr18:2,420,578...2,615,947 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:15689448 PMID:18378883 PMID:18414213 PMID:20981092 PMID:23572247 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
dystonia 28, childhood-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dystonia 28, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28492532 More... NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695 		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 PMID:25741868 NCBI chr20:2,962,701...3,125,282
Ensembl chr20:2,801,905...2,888,195 		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 OMIM
ClinVar		 PMID:25741868 PMID:27174565 PMID:32808683 NCBI chr20:2,931,553...2,956,604
Ensembl chr20:2,695,335...2,720,030 		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 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
dystonia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686 		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:34542157 NCBI chr 3:72,692,338...72,791,784
Ensembl chr 3:74,619,864...74,718,948 		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 chr 4:48,057,553...48,091,471
Ensembl chr 4:53,896,058...53,929,596 		JBrowse link
dystonia 5 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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 chr14:34,984,819...35,008,807
Ensembl chr14:53,263,584...53,287,113 		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 chr14:35,096,716...35,126,072
Ensembl chr14:53,374,648...53,404,122 		JBrowse link
G CNIH1 cornichon family member 1 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:35,010,429...35,028,404
Ensembl chr14:53,292,161...53,306,715 		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, Dopa-responsive, autosomal dominant OMIM
ClinVar		 PMID:1449240 PMID:7544125 PMID:7730309 PMID:7869202 PMID:7874165 More... NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		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 chr14:35,061,469...35,076,234
Ensembl chr14:53,343,142...53,348,840 		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 chr14:35,153,002...35,380,018
Ensembl chr14:53,566,636...53,654,151 		JBrowse link
G SPR sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr2A:72,939,621...72,944,669
Ensembl chr2A:74,433,056...74,438,105 		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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		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 ClinVar
OMIM		 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 More... NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
dystonia, DOPA-responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant OMIM
ClinVar		 PMID:8852666 PMID:9328244 PMID:9667588 PMID:9886460 PMID:10496263 More... NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		JBrowse link
G SPR sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr2A:72,939,621...72,944,669
Ensembl chr2A:74,433,056...74,438,105 		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 chr2B:62,454,409...62,458,067
Ensembl chr2B:179,904,984...179,909,159 		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:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More...
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,268,390...30,273,581 JBrowse link
G C18H16orf92 chromosome 18 C16orf92 homolog ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,398,743...30,399,615 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,227,772...30,233,145 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,550,383...30,556,196 JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,378,922...30,384,142 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,365,725...30,369,486 JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,369,610...30,379,198 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 NCBI chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More...
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,161,702...30,177,170 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,049,806...30,070,469 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:9536098 PMID:11179027 PMID:11346027 PMID:16199547 More...
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23077026 More... Ensembl chr16:30,186,326...30,190,654 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,450,467...30,464,446 JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:9536098 PMID:11179027 PMID:11346027 PMID:16199547 More... Ensembl chr16:30,183,352...30,187,862 JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,240,276...30,267,689 JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,347,229...30,366,743 JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,460,305...30,467,070 JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,399,815...30,406,663 JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,327,890...30,346,316 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,467,490...30,471,256 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:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More...
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,268,390...30,273,581 JBrowse link
G C18H16orf92 chromosome 18 C16orf92 homolog ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,398,743...30,399,615 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,227,772...30,233,145 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,550,383...30,556,196 JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,378,922...30,384,142 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,365,725...30,369,486 JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,369,610...30,379,198 JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More...
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,161,702...30,177,170 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,049,806...30,070,469 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2131349 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 More...
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,186,326...30,190,654 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,450,467...30,464,446 JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia OMIM
ClinVar		 PMID:2131349 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 More... Ensembl chr16:30,183,352...30,187,862 JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,240,276...30,267,689 JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,347,229...30,366,743 JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,460,305...30,467,070 JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,399,815...30,406,663 JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,327,890...30,346,316 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... Ensembl chr16:30,467,490...30,471,256 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 chr11:61,657,453...61,662,262
Ensembl chr11:64,983,084...64,987,816 		JBrowse link
focal dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1A torsin family 1 member A ISO MouseDO NCBI chr 9:100,940,554...100,951,726 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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO MouseDO NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		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 chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		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 chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		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: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis OMIM
ClinVar		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22934317 More... NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228 		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 chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510 		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: Parkinsonism-dystonia, infantile, 2 OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064 		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:9714430 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 More...
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 1:52,195,491...52,324,227
Ensembl chr 1:53,797,254...53,924,939 		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 chr11:29,975,072...29,991,716 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:25741868 PMID:28492532 NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:17,965,397...17,977,048
Ensembl chr22:35,801,379...35,813,005 		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:25741868 PMID:28492532 NCBI chr 7:86,535,215...86,606,114 JBrowse link
myoclonic dystonia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887 		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 chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803 		JBrowse link
G DRD2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 OMIM
ClinVar		 PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 7:86,535,215...86,606,114 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 chr22:18,748,498...18,766,233 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 chr22:18,093,940...18,112,459
Ensembl chr22:35,928,835...35,937,021 		JBrowse link
G C23H22orf23 chromosome 23 C22orf23 homolog ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,846,688...18,868,886 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 chr22:18,407,374...18,437,728
Ensembl chr22:36,240,898...36,268,546 		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 chr22:19,571,658...19,588,872
Ensembl chr22:37,389,948...37,406,879 		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 chr22:18,478,478...18,487,416
Ensembl chr22:36,316,902...36,319,349 		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 chr22:17,905,387...17,922,201
Ensembl chr22:35,740,255...35,758,056 		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 chr22:17,831,313...17,858,272
Ensembl chr22:35,666,734...35,693,701 		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 chr22:19,202,599...19,229,344
Ensembl chr22:37,027,094...37,072,942 		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 chr22:18,197,307...18,230,274
Ensembl chr22:36,040,326...36,061,264 		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 chr22:19,398,801...19,421,587
Ensembl chr22:37,218,884...37,241,425 		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 chr22:19,433,989...19,485,804
Ensembl chr22:37,253,609...37,305,769 		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 chr22:18,765,793...18,803,910
Ensembl chr22:36,595,956...36,632,513 		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 chr22:18,254,614...18,343,027
Ensembl chr22:36,120,755...36,123,217 		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 chr22:19,500,521...19,571,585
Ensembl chr22:37,317,585...37,383,992 		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 chr22:18,736,957...18,741,207 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 chr22:18,722,886...18,731,963
Ensembl chr22:36,554,067...36,563,429 		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 chr22:18,526,456...18,551,640
Ensembl chr22:36,359,744...36,384,707 		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 chr22:19,621,159...19,648,848
Ensembl chr22:37,438,626...37,462,933 		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 chr22:17,672,602...17,690,568
Ensembl chr22:35,509,449...35,519,079 		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 chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038 		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 chr22:19,600,557...19,616,314
Ensembl chr22:37,418,283...37,433,250 		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 chr22:19,341,699...19,370,666
Ensembl chr22:37,163,760...37,165,097 		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 chr22:17,965,397...17,977,048
Ensembl chr22:35,801,379...35,813,005 		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 chr22:19,370,008...19,398,810
Ensembl chr22:37,203,671...37,218,893 		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 chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356 		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 chr22:18,488,257...18,498,401
Ensembl chr22:36,320,775...36,330,281 		JBrowse link
G LOC100968722 chronophin ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,552,737...18,585,014
Ensembl chr22:36,391,200...36,407,938 		JBrowse link
G LOC100970460 histone H1.0 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,720,235...18,722,440
Ensembl chr22:36,551,693...36,552,277 		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 chr22:19,114,929...19,129,901 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 chr22:18,385,664...18,407,056
Ensembl chr22:36,218,403...36,239,804 		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 chr22:18,821,562...18,857,261
Ensembl chr22:36,646,377...36,684,644 		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 chr22:17,933,995...17,944,196
Ensembl chr22:35,770,209...35,780,250 		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 chr22:17,775,590...17,795,725
Ensembl chr22:35,611,589...35,631,400 		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 chr22:18,603,990...18,611,060
Ensembl chr22:36,436,402...36,443,662 		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 Ensembl chr22:36,796,015...36,814,469 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 chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509 		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 chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469 		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 chr22:17,715,109...17,731,587
Ensembl chr22:35,551,448...35,568,316 		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 chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026 		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 chr22:18,991,316...18,996,071
Ensembl chr22:36,817,117...36,821,606 		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 chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439 		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 chr22:18,116,993...18,125,170
Ensembl chr22:35,954,232...35,955,488 		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 chr22:19,649,993...19,671,340
Ensembl chr22:37,466,953...37,487,779 		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 chr22:19,129,580...19,184,852
Ensembl chr22:36,957,324...37,010,074 		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 chr22:17,979,094...18,032,590
Ensembl chr22:35,815,051...35,859,940 		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 chr22:19,596,941...19,599,499
Ensembl chr22:37,414,704...37,417,229 		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 chr22:18,662,794...18,693,138
Ensembl chr22:36,451,860...36,522,391 		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 chr22:17,925,215...17,933,919
Ensembl chr22:35,761,073...35,768,992 		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 chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079 		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 chr 7:148,756,024...148,886,688
Ensembl chr 7:160,474,767...160,580,046 		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 chr 3:72,692,338...72,791,784
Ensembl chr 3:74,619,864...74,718,948 		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 chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		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 chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510 		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 chr22:13,481,255...13,505,301
Ensembl chr22:31,335,423...31,359,224 		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 | ClinVar Annotator: match by term: WARS2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 1:83,405,595...83,515,718
Ensembl chr 1:118,402,385...118,516,099 		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 chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626 		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 chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205 		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 chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643 		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 chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,217,926...106,220,444 JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490 		JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148 		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 chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		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 chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,238,933...106,243,499 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506 		JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More...
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345 		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 chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046 		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 chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705 		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... Ensembl chr16:30,183,352...30,187,862 JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170 		JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839 		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 chr10:74,311,249...74,447,312
Ensembl chr10:76,972,573...77,110,115 		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 chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425 		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 chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644 		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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912 		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 chr11:945,170...1,034,860
Ensembl chr11:1,005,473...1,076,652 		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 chr11:2,305,497...2,308,080 JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,424,873...1,495,630
Ensembl chr11:1,473,129...1,521,339 		JBrowse link
G C9H11orf21 chromosome 9 C11orf21 homolog ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568 		JBrowse link
G CD151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:851,726...857,651
Ensembl chr11:895,802...900,289 		JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 Ensembl chr11:652,671...659,959 JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,908,537...2,911,134 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 chr11:804,517...807,608
Ensembl chr11:849,678...850,127 		JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:888,660...930,901
Ensembl chr11:929,278...977,082 		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 chr11:845,996...850,814
Ensembl chr11:889,575...894,053 		JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,789,326...1,800,524 JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:652,337...709,854 JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:640,401...646,775 JBrowse link
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,592,858...1,611,740 JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128 		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 chr11:784,569...794,911
Ensembl chr11:833,230...839,421 		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:9667588 PMID:9886460 More... NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,771,296...1,787,042 JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		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 chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 Ensembl chr11:647,827...651,314 JBrowse link
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 chr11:2,469,750...2,874,467 JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,889,625...1,931,192
Ensembl chr11:1,921,905...1,963,192 		JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,502,429...1,573,145
Ensembl chr11:1,528,134...1,545,668 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,988,470...1,997,722
Ensembl chr11:2,018,942...2,055,546 		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 chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741 		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 chr11:1,191,223...1,234,373 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927 		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 chr11:816,629...827,295
Ensembl chr11:860,899...867,436 		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 chr11:838,339...844,035
Ensembl chr11:881,934...886,896 		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 chr11:859,015...861,382 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 chr11:827,500...830,490
Ensembl chr11:870,709...874,253 		JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:632,073...634,296 JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121 		JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,867,572...1,874,115
Ensembl chr11:1,902,554...1,910,084 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744 		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 OMIM
ClinVar		 PMID:2019643 PMID:7789962 PMID:7814018 PMID:7910484 PMID:7964718 More... NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695 		JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532
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 chr11:2,428,185...2,448,070
Ensembl chr11:2,456,831...2,475,989 		JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,339,941...2,357,049
Ensembl chr11:2,367,674...2,384,209 		JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:861,598...885,957
Ensembl chr11:905,157...928,480 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,424,217...2,427,602
Ensembl chr11:2,452,388...2,455,772 		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:9700606 PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 More... NCBI chr2A:72,939,621...72,944,669
Ensembl chr2A:74,433,056...74,438,105 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:40,633,898...40,642,300
Ensembl chr20:41,730,346...41,735,389 		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 9:100,940,554...100,951,726 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: Torsion dystonia 2 OMIM
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524 		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: Torsion dystonia 4 OMIM
ClinVar		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785 		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 chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549 		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 chr 8:41,397,123...41,415,379
Ensembl chr 8:38,842,811...38,861,030 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,000,748...42,016,913
Ensembl chr 8:39,444,447...39,460,569 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,947,062...41,987,159
Ensembl chr 8:39,391,001...39,429,926 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,618,173...41,638,550
Ensembl chr 8:39,062,711...39,082,575 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,388,406...42,448,466 JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043 		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 chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G POLB DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464 		JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456 		JBrowse link
G SMIM19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,785,396...41,799,520
Ensembl chr 8:39,229,944...39,241,096 		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 chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207 		JBrowse link
G VDAC3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,638,522...41,652,637
Ensembl chr 8:39,082,698...39,097,437 		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 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		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:60,630,137...60,729,904
Ensembl chr  X:70,684,217...70,782,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      nervous system disease 13323
        Neurologic Manifestations 9657
          Dyskinesias 2139
            dystonia 422
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 0
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Episodic Kinesigenic Dyskinesia + 26
              Juvenile-Onset Dystonia 1
              Leber hereditary optic neuropathy and dystonia 0
              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 47
              Siddiqi syndrome 1
              childhood-onset GLUT1 deficiency syndrome 2 1
              childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
              deafness-dystonia-optic neuronopathy syndrome 2
              dopamine transporter deficiency syndrome + 22
              dystonia 12 3
              dystonia 21 0
              dystonia 22, adult-onset 1
              dystonia 22, juvenile-onset 1
              dystonia 28, childhood-onset 1
              dystonia 30 2
              dystonia 31 1
              dystonia 32 1
              dystonia 33 1
              dystonia 35, childhood-onset 1
              dystonia 37, early-onset with striatal lesions 1
              dystonia 5 9
              dystonia 9 1
              dystonia, DOPA-responsive 2
              early-onset dystonia and/or spastic paraplegia 1
              focal dystonia + 11
              generalized dystonia + 25
              hypermanganesemia with dystonia + 2
              multifocal dystonia + 6
              myoclonic dystonia + 54
              paroxysmal nonkinesigenic dyskinesia 1 52
              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 15686
    disease of anatomical entity 15297
      nervous system disease 13323
        central nervous system disease 11956
          brain disease 11239
            movement disease 2505
              Dyskinesias 2139
                dystonia 422
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 0
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Episodic Kinesigenic Dyskinesia + 26
                  Juvenile-Onset Dystonia 1
                  Leber hereditary optic neuropathy and dystonia 0
                  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 47
                  Siddiqi syndrome 1
                  childhood-onset GLUT1 deficiency syndrome 2 1
                  childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
                  deafness-dystonia-optic neuronopathy syndrome 2
                  dopamine transporter deficiency syndrome + 22
                  dystonia 12 3
                  dystonia 21 0
                  dystonia 22, adult-onset 1
                  dystonia 22, juvenile-onset 1
                  dystonia 28, childhood-onset 1
                  dystonia 30 2
                  dystonia 31 1
                  dystonia 32 1
                  dystonia 33 1
                  dystonia 35, childhood-onset 1
                  dystonia 37, early-onset with striatal lesions 1
                  dystonia 5 9
                  dystonia 9 1
                  dystonia, DOPA-responsive 2
                  early-onset dystonia and/or spastic paraplegia 1
                  focal dystonia + 11
                  generalized dystonia + 25
                  hypermanganesemia with dystonia + 2
                  multifocal dystonia + 6
                  myoclonic dystonia + 54
                  paroxysmal nonkinesigenic dyskinesia 1 52
                  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