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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:dystonia
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Accession:DOID:543 term browser browse the term
Definition:A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)
Synonyms:exact_synonym: Autosomal Recessive Familial Dystonia;   Childhood Onset Dystonia;   Dystonia Disorder;   Dystonic Disorder;   Dystonic Disorders;   Familial Dystonia;   Familial Dystonias;   Hereditary Dystonia;   Hereditary Dystonias;   Idiopathic Familial Dystonia;   Idiopathic Familial Dystonias;   Limb Dystonia;   Muscle Dystonia;   Primary Dystonia;   Primary Dystonias;   Pseudodystonia;   Pseudodystonias;   Psychogenic Dystonia;   Psychogenic Dystonias;   adult onset dystonias;   adult onset idiopathic focal dystonias;   adult onset idiopathic torsion dystonias;   adult-onset dystonia;   autosomal dominant familial dystonia;   childhood onset dystonias;   diurnal dystonia;   dystonia disorders;   dystonic disease;   paroxysmal dystonia;   secondary dystonia;   secondary dystonias;   sporadic dystonia;   sporadic dystonias;   writer cramp;   writer's cramp;   writers cramp
 narrow_synonym: TSPOAP1-RELATED DYSTONIA;   dystonia 1;   regression of motor development with severe dystonia and corresponding basal ganglia lesions
 related_synonym: Dystonia 1, torsion, modifier of
 primary_id: MESH:D004421
 alt_id: MESH:D020821
 xref: ICD10CM:G24;   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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:26467025 PMID:28492532 PMID:32219868 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,136,781...9,285,985
Ensembl chr18:9,136,228...9,285,985 		JBrowse link
G ANKRD53 ankyrin repeat domain 53 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,978,445...70,985,499
Ensembl chr 2:70,978,380...70,985,499 		JBrowse link
G ANKRD62 ankyrin repeat domain 62 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,093,843...12,181,684
Ensembl chr18:12,093,843...12,129,764 		JBrowse link
G ANO3 anoctamin 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666935 More... NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G APCDD1 APC down-regulated 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,454,635...10,489,949
Ensembl chr18:10,454,635...10,489,949 		JBrowse link
G ARF3 ADP ribosylation factor 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr12:48,935,723...48,957,487
Ensembl chr12:48,935,723...48,957,487 		JBrowse link
G ARFGEF3 ARFGEF family member 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:33098801 NCBI chr 6:138,161,939...138,344,663
Ensembl chr 6:138,161,939...138,344,663 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin ISO DNA:insertion:intron (rat)
DNA:insertions, deletion:intron, exons (mouse)		 RGD PMID:16246457 PMID:14556008 RGD:5133436, RGD:1599348 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:increased expression:cerebellar cortex RGD PMID:17092653 RGD:1599351 NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G AUP1 AUP1 lipid droplet regulating VLDL assembly factor IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,526,652...74,529,706
Ensembl chr 2:74,526,645...74,529,760 		JBrowse link
G BCHE butyrylcholinesterase IEP protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G BOLA3 bolA family member 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C2orf78 chromosome 2 open reading frame 78 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,784,183...73,817,148
Ensembl chr 2:73,784,183...73,817,148 		JBrowse link
G C2orf81 chromosome 2 open reading frame 81 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,414,177...74,421,619
Ensembl chr 2:74,414,176...74,421,619 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:20029458 PMID:25741868 PMID:28139025 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CCDC142 coiled-coil domain containing 142 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,472,832...74,482,998
Ensembl chr 2:74,471,986...74,483,408 		JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,234,308...73,253,005
Ensembl chr 2:73,233,420...73,253,021 		JBrowse link
G CD207 CD207 molecule IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,824,130...70,835,816
Ensembl chr 2:70,830,211...70,835,816 		JBrowse link
G CD22 CD22 molecule IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,329,187...35,347,361
Ensembl chr19:35,319,261...35,347,361 		JBrowse link
G CEP76 centrosomal protein 76 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,661,956...12,702,777
Ensembl chr18:12,661,833...12,702,777 		JBrowse link
G CHMP1B charged multivesicular body protein 1B IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:23222958 PMID:24405754 PMID:25817843 PMID:27123488 PMID:28492532 NCBI chr18:11,851,413...11,854,444
Ensembl chr18:11,851,413...11,854,444 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19404753 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CHROMR cholesterol induced regulator of metabolism RNA IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 2:178,413,659...178,440,243
Ensembl chr 2:178,413,635...178,440,243 		JBrowse link
G CIDEA cell death inducing DFFA like effector a IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,254,361...12,277,595
Ensembl chr18:12,254,361...12,277,595 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22447717 PMID:23222958 More... NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CLEC4F C-type lectin domain family 4 member F IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,808,643...70,825,235
Ensembl chr 2:70,808,643...70,820,599 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP 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 chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16702617 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Dystonic disorder
ClinVar Annotator: match by term: Dystonia		 ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:25741868 More... NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DMKN dermokine IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,497,220...35,513,649
Ensembl chr19:35,497,220...35,513,658 		JBrowse link
G DOK1 docking protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,549,105...74,557,551
Ensembl chr 2:74,549,026...74,557,551 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281 		JBrowse link
G DRD2 dopamine receptor D2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8824240 PMID:9536098 PMID:10208638 PMID:17576681 PMID:25711927 More... NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G DUSP11 dual specificity phosphatase 11 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,762,213...73,780,149
Ensembl chr 2:73,761,782...73,780,132 		JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EGR4 early growth response 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,290,929...73,293,548
Ensembl chr 2:73,290,929...73,293,701 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G EMX1 empty spiracles homeobox 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,916,189...72,934,891
Ensembl chr 2:72,916,260...72,936,071 		JBrowse link
G ETV2 ETS variant transcription factor 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G FAM187B family with sequence similarity 187 member B IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,224,800...35,228,739
Ensembl chr19:35,224,800...35,228,739 		JBrowse link
G FBXO41 F-box protein 41 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,254,690...73,284,478
Ensembl chr 2:73,254,682...73,284,478 		JBrowse link
G FFAR1 free fatty acid receptor 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,347,902...35,353,864
Ensembl chr19:35,347,902...35,353,864 		JBrowse link
G FFAR2 free fatty acid receptor 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,448,257...35,451,767
Ensembl chr19:35,443,907...35,451,767 		JBrowse link
G FFAR3 free fatty acid receptor 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,358,151...35,360,489
Ensembl chr19:35,358,460...35,360,489 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109 		JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324 		JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,154,735...35,169,881
Ensembl chr19:35,154,730...35,169,881 		JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,143,255...35,154,302
Ensembl chr19:35,143,250...35,154,302 		JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP
EXP		 dopa-responsive dystonia,OMIM:128230;DNA:point mutations:R88W,D134V
ClinVar Annotator: match by term: Dystonic disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8619546 PMID:15389992 PMID:16199547 PMID:19491146 PMID:25741868 More... RGD:1601280 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLRA1 glycine receptor alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17114051 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GNAL G protein subunit alpha L EXP
IAGP
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:23222958 PMID:23449625 PMID:23759320 More... RGD:150429833 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GPR42 G protein-coupled receptor 42 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,371,068...35,372,962
Ensembl chr19:35,371,068...35,372,962 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,612,735...35,625,355
Ensembl chr19:35,612,735...35,625,355 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HPN hepsin IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,040,506...35,066,573
Ensembl chr19:35,040,506...35,066,573 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,754,566...35,757,029
Ensembl chr19:35,754,566...35,758,079 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G IGFLR1 IGF like family receptor 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,738,801...35,742,452
Ensembl chr19:35,738,801...35,742,453 		JBrowse link
G IMPA2 inositol monophosphatase 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,981,507...12,030,877
Ensembl chr18:11,981,025...12,030,877 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INO80B INO80 complex subunit B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,455,087...74,457,944
Ensembl chr 2:74,455,087...74,457,944 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KMT2B lysine methyltransferase 2B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:27992417 PMID:32581362 PMID:33150406 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,487,324...35,490,464
Ensembl chr19:35,487,324...35,495,558 		JBrowse link
G LBX2 ladybird homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,497,517...74,503,316
Ensembl chr 2:74,497,517...74,503,316 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,748,576...35,754,519
Ensembl chr19:35,748,361...35,754,519 		JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:49,077,189...49,078,388 JBrowse link
G LOC129934069 ATAC-STARR-seq lymphoblastoid silent region 11626 IAGP ClinVar Annotator: match by term: Dystonic disorder
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder		 ClinVar PMID:22522443 PMID:25741868 PMID:28492532 PMID:29147684 NCBI chr 2:72,887,260...72,887,649 JBrowse link
G LOC129935594 ATAC-STARR-seq lymphoblastoid active region 17117 IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 More... NCBI chr 2:218,270,354...218,270,733 JBrowse link
G LOC130002772 ATAC-STARR-seq lymphoblastoid active region 29122 IAGP ClinVar Annotator: match by term: Dystonia 1
ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder		 ClinVar PMID:28492532 NCBI chr 9:129,824,021...129,824,330 JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964 		JBrowse link
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MCEE methylmalonyl-CoA epimerase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		JBrowse link
G MOB1A MOB kinase activator 1A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,152,528...74,178,879
Ensembl chr 2:74,152,528...74,178,898 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPHOSPH10 M-phase phosphoprotein 10 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,130,634...71,150,101
Ensembl chr 2:71,130,310...71,150,101 		JBrowse link
G MPPE1 metallophosphoesterase 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,882,622...11,908,317
Ensembl chr18:11,882,622...11,908,366 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MRPL53 mitochondrial ribosomal protein L53 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,471,982...74,472,680
Ensembl chr 2:74,471,982...74,472,687 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Dystonia, adult-onset ClinVar PMID:11938495 PMID:12756609 PMID:26467025 PMID:28821228 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28027978 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,198,615...74,217,565
Ensembl chr 2:74,186,172...74,217,565 		JBrowse link
G MUC15 mucin 15, cell surface associated IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr11:26,559,032...26,572,263
Ensembl chr11:26,559,032...26,572,263 		JBrowse link
G MYO5A myosin VA IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G NAGK N-acetylglucosamine kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,068,296...71,079,808
Ensembl chr 2:71,064,344...71,079,808 		JBrowse link
G NAPG NSF attachment protein gamma IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,526,027...10,552,764
Ensembl chr18:10,525,905...10,552,764 		JBrowse link
G NAT8 N-acetyltransferase 8 (putative) IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,640,723...73,642,422
Ensembl chr 2:73,640,723...73,642,422 		JBrowse link
G NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,700,509...73,702,125
Ensembl chr 2:73,700,576...73,701,340 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18788921 PMID:24555207 PMID:25741868 PMID:27066577 PMID:28492532 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NOTO notochord homeobox IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,202,574...73,212,513
Ensembl chr 2:73,202,574...73,212,513 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26981555 PMID:28492532 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G PAIP2B poly(A) binding protein interacting protein 2B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,182,738...71,227,103
Ensembl chr 2:71,182,738...71,227,103 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:1734303 PMID:11479594 PMID:12058097 PMID:12510040 PMID:25741868 More... NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PCGF1 polycomb group ring finger 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,505,043...74,507,695
Ensembl chr 2:74,505,043...74,507,695 		JBrowse link
G PDE2A phosphodiesterase 2A IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PENK proenkephalin ISO mRNA:decreased expression:striatum: RGD PMID:22595488 RGD:10003100 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 More... NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:7,898,247...7,927,724
Ensembl chr  X:7,898,247...7,927,739 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,546,794...9,617,199
Ensembl chr18:9,546,791...9,615,240 		JBrowse link
G PRADC1 protease associated domain containing 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,228,006...73,233,284
Ensembl chr 2:73,228,010...73,233,239 		JBrowse link
G PRELID3A PRELI domain containing 3A IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,407,929...12,432,238
Ensembl chr18:12,407,896...12,432,238 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:18243799 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PROSER3 proline and serine rich 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,758,176...35,771,166
Ensembl chr19:35,758,143...35,771,166 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PUDP pseudouridine 5'-phosphatase IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:6,705,838...7,148,153
Ensembl chr  X:6,667,865...7,148,158 		JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:25741868 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,073,382...73,112,948
Ensembl chr 2:73,073,382...73,156,721 		JBrowse link
G RAB31 RAB31, member RAS oncogene family IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,708,301...9,862,551
Ensembl chr18:9,708,275...9,862,551 		JBrowse link
G RALBP1 ralA binding protein 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,475,009...9,538,114
Ensembl chr18:9,475,009...9,538,114 		JBrowse link
G RBM42 RNA binding motif protein 42 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,629,036...35,637,685
Ensembl chr19:35,629,030...35,637,686 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18835386 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RTKN rhotekin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,425,835...74,441,937
Ensembl chr 2:74,425,835...74,442,422 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SBSN suprabasin IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,523,367...35,528,311
Ensembl chr19:35,523,367...35,528,351 		JBrowse link
G SCP2 sterol carrier protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G SERAC1 serine active site containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18788921 PMID:24555207 PMID:25741868 PMID:27066577 PMID:28492532 NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		JBrowse link
G SFXN5 sideroflexin 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,942,036...73,071,712
Ensembl chr 2:72,942,036...73,075,619 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Dystonic disorder
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 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: Dystonia
ClinVar Annotator: match by term: Dystonic disorder		 ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,049...42,996,814 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC35G4 solute carrier family 35 member G4 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,609,596...11,610,612
Ensembl chr18:11,609,596...11,610,612 		JBrowse link
G SLC4A5 solute carrier family 4 member 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,216,242...74,343,416
Ensembl chr 2:74,216,242...74,343,416 		JBrowse link
G SMYD5 SMYD family member 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,214,245...73,227,221
Ensembl chr 2:73,214,222...73,227,221 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,446,512...12,662,091
Ensembl chr18:12,446,512...12,658,107 		JBrowse link
G SPR sepiapterin reductase susceptibility IAGP DNA:deletion, transitions
ClinVar Annotator: match by term: Dystonic disorder
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder		 ClinVar
RGD		 PMID:9536098 PMID:11443547 PMID:16697227 PMID:16752391 PMID:16917893 More... RGD:1600054 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G STAMBP STAM binding protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STS steroid sulfatase IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176 		JBrowse link
G TEX261 testis expressed 261 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,985,942...70,994,873
Ensembl chr 2:70,968,325...70,994,873 		JBrowse link
G TH tyrosine hydroxylase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:9703425 PMID:10407773 PMID:15505183 PMID:20430833 PMID:20823027 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THAP1 THAP domain containing 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:23222958 PMID:32581362 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A susceptibility IAGP DNA:mutation:exon; associated with deafness
DNA:deletion:cds:108delG(human)		 RGD PMID:11405816 PMID:11601506 RGD:1600152, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TLX2 T cell leukemia homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,514,450...74,517,148
Ensembl chr 2:74,513,463...74,517,148 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TOR1A torsin family 1 member A IAGP
EXP		 ClinVar Annotator: match by term: Dystonia 1
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9288096 PMID:9536098 PMID:11523564 PMID:12391338 PMID:12391355 More... NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP ClinVar Annotator: match by term: TSPOAP1-related Dystonia ClinVar NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TTC31 tetratricopeptide repeat domain 31 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,483,081...74,494,559
Ensembl chr 2:74,483,073...74,494,559 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBB6 tubulin beta 6 class V IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,334,773...9,402,420
Ensembl chr18:9,334,767...9,402,420 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,885,973...9,889,275
Ensembl chr18:9,885,766...9,889,275 		JBrowse link
G U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,742,464...35,745,418
Ensembl chr19:35,742,464...35,745,445 		JBrowse link
G UPK1A uroplakin 1A IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,666,517...35,678,481
Ensembl chr19:35,666,517...35,678,481 		JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,268,962...35,279,821
Ensembl chr19:35,268,962...35,279,821 		JBrowse link
G VAPA VAMP associated protein A IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,914,016...9,960,021
Ensembl chr18:9,914,016...9,960,021 		JBrowse link
G VAX2 ventral anterior homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,900,576...70,933,446
Ensembl chr 2:70,900,576...70,965,373 		JBrowse link
G VCX variable charge X-linked IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:7,842,262...7,844,143
Ensembl chr  X:7,842,262...7,844,143 		JBrowse link
G WBP1 WW domain binding protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,458,438...74,460,881
Ensembl chr 2:74,458,400...74,460,891 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G WDR54 WD repeat domain 54 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,421,730...74,425,755
Ensembl chr 2:74,421,678...74,425,755 		JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 IAGP ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr19:35,704,558...35,717,038
Ensembl chr19:35,704,558...35,717,038 		JBrowse link
G ZNF638 zinc finger protein 638 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,331,782...71,435,061
Ensembl chr 2:71,276,561...71,435,069 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 More... NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD5 dopamine receptor D5 IAGP
EXP		 DNA:repeat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11781417 PMID:11781417 RGD:734899 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		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 IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G DRD5 dopamine receptor D5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		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 IAGP
EXP		 ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		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 LOC129930369 ATAC-STARR-seq lymphoblastoid silent region 772 IAGP ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:42,957,989...42,958,628 JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP
EXP		 ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2
ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia
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 Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia
ClinVar Annotator: match by term: Childhood onset 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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:2344855 PMID:9462754 PMID:9536098 PMID:10227690 PMID:10980529 More... NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,049...42,996,814 		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 IAGP ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome
ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1		 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		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 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G LOC130068494 ATAC-STARR-seq lymphoblastoid active region 29808 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar PMID:8841189 PMID:15037720 NCBI chr  X:101,348,664...101,348,713 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP
EXP		 DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)		 ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		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 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291 		JBrowse link
G BRD9 bromodomain containing 9 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801 		JBrowse link
G CEP72 centrosomal protein 72 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168 		JBrowse link
G CLPTM1L CLPTM1 like IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G EXOC3 exocyst complex component 3 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937 		JBrowse link
G EXOC3-AS1 EXOC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:441,835...443,160
Ensembl chr 5:441,498...443,160 		JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,461,427...1,523,960
Ensembl chr 5:1,456,480...1,523,962 		JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943 		JBrowse link
G PDCD6 programmed cell death 6 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SLC12A7 solute carrier family 12 member 7 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile		 CTD
ClinVar		 PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TPPP tubulin polymerization promoting protein IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973 		JBrowse link
G ZDHHC11B zinc finger DHHC-type containing 11B IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729 		JBrowse link
dystonia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP
EXP		 DNA:deletion:exon:p.S148del, c.443_445delGAG (human)
ClinVar Annotator: match by term: Dystonia 12
ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 More... RGD:11055714 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:41,993,964...41,994,403 JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
dystonia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHROMR cholesterol induced regulator of metabolism RNA IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:18243799 PMID:24142417 PMID:25142429 PMID:25737287 PMID:25741868 More... NCBI chr 2:178,413,659...178,440,243
Ensembl chr 2:178,413,635...178,440,243 		JBrowse link
G FKBP7 FKBP prolyl isomerase 7 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,463,664...178,478,600
Ensembl chr 2:178,463,664...178,478,600 		JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,536,377...178,537,576 JBrowse link
G LOC126806421 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,542,903...178,544,102 JBrowse link
G LOC126806422 BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,575,478...178,576,677 JBrowse link
G LOC126806423 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,578,582...178,579,781 JBrowse link
G LOC129935179 ATAC-STARR-seq lymphoblastoid silent region 12150 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,480,211...178,480,850 JBrowse link
G LOC129935180 ATAC-STARR-seq lymphoblastoid active region 16805 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,482,435...178,482,484 JBrowse link
G LOC129935181 ATAC-STARR-seq lymphoblastoid silent region 12151 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,514,868...178,514,937 JBrowse link
G LOC129935182 ATAC-STARR-seq lymphoblastoid active region 16807 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,530,425...178,530,614 JBrowse link
G LOC129935183 ATAC-STARR-seq lymphoblastoid active region 16808 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,530,645...178,531,034 JBrowse link
G LOC129935184 ATAC-STARR-seq lymphoblastoid active region 16809 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,531,045...178,531,124 JBrowse link
G LOC129935185 ATAC-STARR-seq lymphoblastoid active region 16810 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,531,435...178,531,484 JBrowse link
G LOC129935186 ATAC-STARR-seq lymphoblastoid active region 16811 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,542,641...178,542,690 JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PLEKHA3 pleckstrin homology domain containing A3 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,480,457...178,516,463
Ensembl chr 2:178,480,457...178,516,463 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP
EXP		 ClinVar Annotator: match by term: Dystonia 16
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		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 IAGP ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:33539324 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		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 IAGP ClinVar Annotator: match by term: Dystonia 22, juvenile-onset OMIM
ClinVar		 PMID:33539324 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TSPOAP1-AS1 TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 IAGP ClinVar Annotator: match by term: Dystonia 22, juvenile-onset ClinVar PMID:33539324 NCBI chr17:58,325,450...58,353,727
Ensembl chr17:58,324,472...58,415,766 		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 IAGP ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:25741868 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
dystonia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO3 anoctamin 3 IAGP ClinVar Annotator: match by term: Dystonia 24 ClinVar
OMIM		 PMID:11009204 PMID:23200863 PMID:25741868 PMID:27666935 PMID:28492532 More... NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		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 IAGP ClinVar Annotator: match by term: Dystonia 25 OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:25741868 More... NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		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 IAGP ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:15689448 PMID:18378883 PMID:18414213 PMID:20981092 PMID:23572247 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Dystonia 28, childhood-onset ClinVar
OMIM		 PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28492532 More... NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G LOC130064258 ATAC-STARR-seq lymphoblastoid silent region 10535 IAGP ClinVar Annotator: match by term: Dystonia 28, childhood-onset ClinVar PMID:25741868 NCBI chr19:35,718,148...35,718,217 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 IAGP ClinVar Annotator: match by term: Dystonia 30 ClinVar PMID:25741868 NCBI chr20:2,864,184...3,038,669
Ensembl chr20:2,873,420...3,039,076 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Dystonia 30
ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder		 OMIM
ClinVar		 PMID:25741868 PMID:27174565 PMID:32808683 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		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) IAGP ClinVar Annotator: match by term: Dystonia 31 OMIM
ClinVar		 PMID:25741868 PMID:34596301 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
dystonia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006887 ATAC-STARR-seq lymphoblastoid active region 5620 IAGP ClinVar Annotator: match by term: Dystonia 32 ClinVar NCBI chr11:119,067,916...119,067,965 JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Dystonia 32 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		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 IAGP ClinVar Annotator: match by term: Dystonia 33 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33236446 PMID:33866603 PMID:35146068 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		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 IAGP ClinVar Annotator: match by term: Dystonia 35, childhood-onset OMIM
ClinVar		 PMID:34542157 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914 		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 LOC129992689 ATAC-STARR-seq lymphoblastoid active region 21626 IAGP ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions ClinVar PMID:25741868 NCBI chr 4:76,148,347...76,148,506 JBrowse link
G NUP54 nucleoporin 54 IAGP ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions OMIM
ClinVar		 PMID:25741868 PMID:36333996 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		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 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CDKN3 cyclin dependent kinase inhibitor 3 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:54,397,007...54,420,218
Ensembl chr14:54,396,849...54,420,218 		JBrowse link
G CGRRF1 cell growth regulator with ring finger domain 1 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:54,509,906...54,539,292
Ensembl chr14:54,509,812...54,539,292 		JBrowse link
G CNIH1 cornichon family member 1 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:54,423,561...54,441,374
Ensembl chr14:54,423,561...54,441,391 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP
EXP		 ClinVar Annotator: match by term: Dystonia 5
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
ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5
DNA:nonsense mutation
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1449240 PMID:7544125 PMID:7730309 PMID:7869202 PMID:7874165 More... RGD:329970286 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GMFB glia maturation factor beta IAGP ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:54,474,485...54,488,980
Ensembl chr14:54,474,484...54,489,025 		JBrowse link
G LOC129934069 ATAC-STARR-seq lymphoblastoid silent region 11626 IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 2:72,887,260...72,887,649 JBrowse link
G LOC130055686 ATAC-STARR-seq lymphoblastoid active region 8418 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,881,207...54,881,256 JBrowse link
G LOC130055687 ATAC-STARR-seq lymphoblastoid active region 8419 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,881,377...54,881,626 JBrowse link
G LOC130055688 ATAC-STARR-seq lymphoblastoid active region 8420 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,882,067...54,882,156 JBrowse link
G LOC130055689 ATAC-STARR-seq lymphoblastoid active region 8421 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,890,714...54,890,963 JBrowse link
G LOC130055690 ATAC-STARR-seq lymphoblastoid silent region 5774 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,902,011...54,902,070 JBrowse link
G LOC130055691 ATAC-STARR-seq lymphoblastoid silent region 5775 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,902,081...54,902,130 JBrowse link
G LOC130055692 ATAC-STARR-seq lymphoblastoid silent region 5776 IAGP ClinVar Annotator: match by term: Dystonia 5
ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant
ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5		 ClinVar PMID:7730309 PMID:9328244 PMID:9576537 PMID:9667588 PMID:10825351 More... NCBI chr14:54,902,541...54,903,180 JBrowse link
G MIR4308 microRNA 4308 IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:17111153 PMID:28492532 NCBI chr14:54,878,113...54,878,193
Ensembl chr14:54,878,113...54,878,193 		JBrowse link
G SAMD4A sterile alpha motif domain containing 4A IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr14:54,565,316...54,793,315
Ensembl chr14:54,566,117...54,793,315 		JBrowse link
G SPR sepiapterin reductase IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:18554280 PMID:20056467 PMID:24753243 PMID:25741868 PMID:28087438 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129930369 ATAC-STARR-seq lymphoblastoid silent region 772 IAGP ClinVar Annotator: match by term: Dystonia 9
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:42,957,989...42,958,628 JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP
EXP		 DNA:missense mutation:exon: p.R212C (c.634C>T) (human)
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 More... RGD:12879478 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: Dystonia 9 ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,049...42,996,814 		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 IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia
ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant		 ClinVar
OMIM		 PMID:8852666 PMID:9328244 PMID:9667588 PMID:9886460 PMID:10496263 More... NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G LOC129934069 ATAC-STARR-seq lymphoblastoid silent region 11626 IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 2:72,887,260...72,887,649 JBrowse link
G LOC130055692 ATAC-STARR-seq lymphoblastoid silent region 5776 IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia
ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant		 ClinVar PMID:9328244 PMID:19332422 PMID:24033266 PMID:24993959 PMID:25741868 More... NCBI chr14:54,902,541...54,903,180 JBrowse link
G SPR sepiapterin reductase IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		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 IAGP ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710 		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 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,900,363...29,919,864
Ensembl chr16:29,900,375...29,919,864 		JBrowse link
G C16orf92 chromosome 16 open reading frame 92 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,858,357...29,863,226
Ensembl chr16:29,858,357...29,863,414 		JBrowse link
G CDIPTOSP CDIP transferase opposite strand, pseudogene IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,863,683...29,868,053
Ensembl chr16:29,863,593...29,868,053
Ensembl chr16:29,863,593...29,868,053 		JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G DOC2A double C2 domain alpha IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,005,514...30,023,228
Ensembl chr16:30,005,514...30,023,270 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537 		JBrowse link
G HIRIP3 HIRA interacting protein 3 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,992,321...29,996,096
Ensembl chr16:29,992,330...29,996,074 		JBrowse link
G INO80E INO80 complex subunit E IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,996,241...30,005,791
Ensembl chr16:29,995,715...30,005,793 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 PMID:28492532 PMID:34305802 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,906,339...29,926,226
Ensembl chr16:29,905,012...29,926,236 		JBrowse link
G KIF22 kinesin family member 22 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G LOC112352680 Sharpr-MPRA regulatory region 6067 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,899,448...29,899,742 JBrowse link
G LOC121847977 Sharpr-MPRA regulatory region 13449 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,848,548...29,848,842 JBrowse link
G LOC130058790 ATAC-STARR-seq lymphoblastoid active region 10679 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,815,854...29,816,103 JBrowse link
G LOC130058791 ATAC-STARR-seq lymphoblastoid silent region 7340 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,816,294...29,816,463 JBrowse link
G LOC130058792 ATAC-STARR-seq lymphoblastoid active region 10680 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,820,106...29,820,175 JBrowse link
G LOC130058793 ATAC-STARR-seq lymphoblastoid active region 10682 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,825,128...29,825,207 JBrowse link
G LOC130058794 ATAC-STARR-seq lymphoblastoid active region 10683 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,825,268...29,825,397 JBrowse link
G LOC130058795 ATAC-STARR-seq lymphoblastoid silent region 7341 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,862,919...29,863,228 JBrowse link
G LOC130058796 ATAC-STARR-seq lymphoblastoid silent region 7342 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,863,239...29,863,298 JBrowse link
G LOC130058797 ATAC-STARR-seq lymphoblastoid silent region 7343 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr16:29,900,106...29,900,535 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MAZ MYC associated zinc finger protein IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,806,124...29,811,164
Ensembl chr16:29,806,106...29,811,164 		JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:9536098 PMID:11179027 PMID:11346027 PMID:16199547 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23077026 More... NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,075,994...30,085,376
Ensembl chr16:30,075,978...30,085,376 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:9536098 PMID:11179027 PMID:11346027 PMID:16199547 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,871,159...29,899,550
Ensembl chr16:29,871,159...29,899,550 		JBrowse link
G TAOK2 TAO kinase 2 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,973,868...29,992,261
Ensembl chr16:29,973,868...29,992,261 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TLCD3B TLC domain containing 3B IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978 		JBrowse link
G TMEM219 transmembrane protein 219 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,962,079...29,973,048
Ensembl chr16:29,940,885...29,973,050 		JBrowse link
G YPEL3 yippee like 3 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,092,314...30,096,213
Ensembl chr16:30,092,314...30,096,915 		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 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,900,363...29,919,864
Ensembl chr16:29,900,375...29,919,864 		JBrowse link
G C16orf92 chromosome 16 open reading frame 92 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,858,357...29,863,226
Ensembl chr16:29,858,357...29,863,414 		JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G DOC2A double C2 domain alpha IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,005,514...30,023,228
Ensembl chr16:30,005,514...30,023,270 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537 		JBrowse link
G HIRIP3 HIRA interacting protein 3 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,992,321...29,996,096
Ensembl chr16:29,992,330...29,996,074 		JBrowse link
G INO80E INO80 complex subunit E IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,996,241...30,005,791
Ensembl chr16:29,995,715...30,005,793 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,906,339...29,926,226
Ensembl chr16:29,905,012...29,926,236 		JBrowse link
G KIF22 kinesin family member 22 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G LOC130058790 ATAC-STARR-seq lymphoblastoid active region 10679 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 ClinVar PMID:28492532 NCBI chr16:29,815,854...29,816,103 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MAZ MYC associated zinc finger protein IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,806,124...29,811,164
Ensembl chr16:29,806,106...29,811,164 		JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1
ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia		 ClinVar PMID:2131349 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,075,994...30,085,376
Ensembl chr16:30,075,978...30,085,376 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1
ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
OMIM:128200
ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2131349 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,871,159...29,899,550
Ensembl chr16:29,871,159...29,899,550 		JBrowse link
G TAOK2 TAO kinase 2 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,973,868...29,992,261
Ensembl chr16:29,973,868...29,992,261 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TLCD3B TLC domain containing 3B IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978 		JBrowse link
G TMEM219 transmembrane protein 219 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:29,962,079...29,973,048
Ensembl chr16:29,940,885...29,973,050 		JBrowse link
G YPEL3 yippee like 3 IAGP ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr16:30,092,314...30,096,213
Ensembl chr16:30,092,314...30,096,915 		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 IAGP ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 ClinVar
OMIM		 PMID:34518509 PMID:34820915 PMID:34970790 PMID:35587630 PMID:35727387 More... NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
focal dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1A torsin family 1 member A ISS MouseDO NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
generalized dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129388752 MPRA-validated peak704 silencer IAGP ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis ClinVar NCBI chr 1:219,835,413...219,835,613 JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 | ClinVar Annotator: match by term: SLC39A14-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27431290 PMID:28492532 PMID:28541650 PMID:29498153 More... NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		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 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC18A2-AS1 SLC18A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 ClinVar PMID:25741868 NCBI chr10:117,238,765...117,241,997
Ensembl chr10:117,238,762...117,241,998 		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 IAGP
EXP		 ClinVar Annotator: match by term: Juvenile-onset dystonia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9714430 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 More... NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCP2 sterol carrier protein 2 IAGP
EXP		 ClinVar Annotator: match by term: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16685654 PMID:17576681 PMID:25741868 More... NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		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 IAGP ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030 		JBrowse link
Mitochondrial Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Dystonia, mitochondrial ClinVar PMID:17724295 NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		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 IAGP ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia
ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:94,509,809...94,634,172
Ensembl chr 7:94,509,219...94,557,019 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G SGCE sarcoglycan epsilon EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome
ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		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 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 7:94,509,809...94,634,172
Ensembl chr 7:94,509,219...94,557,019 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G DRD2 dopamine receptor D2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G LOC129998822 ATAC-STARR-seq lymphoblastoid silent region 18377 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:94,436,176...94,436,225 JBrowse link
G LOC129998823 ATAC-STARR-seq lymphoblastoid active region 26288 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:94,556,110...94,556,159 JBrowse link
G LOC129998824 ATAC-STARR-seq lymphoblastoid active region 26289 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:94,620,671...94,620,720 JBrowse link
G LOC129998825 ATAC-STARR-seq lymphoblastoid active region 26290 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:94,620,761...94,621,080 JBrowse link
G SGCE sarcoglycan epsilon IAGP
ISS		 ClinVar Annotator: match by term: Myoclonic dystonia 11
OMIM:159900		 ClinVar
MouseDO
OMIM		 PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		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 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,830,855...37,849,341
Ensembl chr22:37,830,855...37,849,327 		JBrowse link
G BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,084,900...38,110,967
Ensembl chr22:38,084,652...38,111,015 		JBrowse link
G C1QTNF6 C1q and TNF related 6 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,180,166...37,199,423
Ensembl chr22:37,180,166...37,199,385 		JBrowse link
G C22orf23 chromosome 22 open reading frame 23 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,943,050...37,953,669
Ensembl chr22:37,943,050...37,953,669 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,560,480...37,569,405
Ensembl chr22:37,560,480...37,569,405 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,991,125...37,007,851
Ensembl chr22:36,991,120...37,007,851 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439 		JBrowse link
G CSNK1E casein kinase 1 epsilon IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084 		JBrowse link
G CYTH4 cytohesin 4 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,282,508...37,315,341
Ensembl chr22:37,282,027...37,315,341 		JBrowse link
G DDX17 DEAD-box helicase 17 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,483,438...38,506,311
Ensembl chr22:38,483,438...38,507,660 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,849,419...37,889,407
Ensembl chr22:37,848,868...37,889,407 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,340,644...37,427,479
Ensembl chr22:37,367,960...37,427,479
Ensembl chr22:37,367,960...37,427,479 		JBrowse link
G FAM227A family with sequence similarity 227 member A IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,578,118...38,656,392
Ensembl chr22:38,578,118...38,656,629 		JBrowse link
G GALR3 galanin receptor 3 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,823,382...37,825,485
Ensembl chr22:37,823,382...37,825,485 		JBrowse link
G GCAT glycine C-acetyltransferase IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,807,934...37,817,183
Ensembl chr22:37,807,905...37,817,176 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,608,834...37,633,564
Ensembl chr22:37,608,474...37,633,564 		JBrowse link
G GTPBP1 GTP binding protein 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,705,944...38,743,115
Ensembl chr22:38,705,742...38,738,299 		JBrowse link
G H1-0 H1.0 linker histone IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,805,229...37,807,432
Ensembl chr22:37,805,229...37,807,432 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G JOSD1 Josephin domain containing 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,685,543...38,701,403
Ensembl chr22:38,685,543...38,701,556 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,426,327...38,455,199
Ensembl chr22:38,426,327...38,455,199 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar
OMIM		 PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,468,096...38,483,447
Ensembl chr22:38,468,078...38,483,447 		JBrowse link
G LGALS1 galectin 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802 		JBrowse link
G LGALS2 galectin 2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,570,248...37,580,087
Ensembl chr22:37,570,248...37,582,616 		JBrowse link
G LOC130067340 ATAC-STARR-seq lymphoblastoid silent region 13677 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:37,051,534...37,051,843 JBrowse link
G MAFF MAF bZIP transcription factor F IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,201,994...38,216,511
Ensembl chr22:38,200,767...38,216,507 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,469,063...37,486,384
Ensembl chr22:37,469,063...37,486,393 		JBrowse link
G MICALL1 MICAL like 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,906,297...37,942,822
Ensembl chr22:37,905,657...37,942,822 		JBrowse link
G MIR659 microRNA 659 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,847,678...37,847,774
Ensembl chr22:37,847,678...37,847,774 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,019,742...37,029,815
Ensembl chr22:37,019,635...37,029,821 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NOL12 nucleolar protein 12 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,686,343...37,693,474
Ensembl chr22:37,681,673...37,693,476 		JBrowse link
G PDXP pyridoxal phosphatase IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,658,723...37,666,932
Ensembl chr22:37,658,723...37,666,932 		JBrowse link
G PICK1 protein interacting with PRKCA 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,057,255...38,075,701
Ensembl chr22:38,056,311...38,075,701 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G PVALB parvalbumin IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,800,703...36,819,499
Ensembl chr22:36,800,684...36,819,479 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,639,669...37,656,117
Ensembl chr22:37,634,654...37,656,117 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,078,137...38,084,184
Ensembl chr22:38,078,134...38,084,184 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SSTR3 somatostatin receptor 3 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,204,237...37,220,548
Ensembl chr22:37,204,237...37,212,477 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,734,734...38,755,998
Ensembl chr22:38,733,290...38,794,143 		JBrowse link
G TMEM184B transmembrane protein 184B IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,216,395...38,273,010
Ensembl chr22:38,219,291...38,273,010 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,681,957...38,685,421
Ensembl chr22:38,681,957...38,685,421 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G TST thiosulfate sulfurtransferase IAGP ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,010,859...37,020,183
Ensembl chr22:37,010,859...37,020,183 		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 IAGP ClinVar Annotator: match by term: Dystonia 34, myoclonic OMIM
ClinVar		 PMID:25741868 PMID:32212350 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G LOC101927078 uncharacterized LOC101927078 IAGP ClinVar Annotator: match by term: Dystonia 34, myoclonic ClinVar PMID:32212350 NCBI chr 5:114,447,418...114,773,413 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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures OMIM
ClinVar		 PMID:25741868 PMID:34542157 PMID:36847845 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914 		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 IAGP ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14
ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM:612953
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		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 IAGP
EXP		 ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129931299 ATAC-STARR-seq lymphoblastoid active region 1590 IAGP ClinVar Annotator: match by term: WARS2-related condition ClinVar PMID:25741868 PMID:28236339 PMID:28492532 PMID:29120065 PMID:30831263 More... NCBI chr 1:119,140,425...119,140,734 JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: WARS2-related condition
ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset		 OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WARS2-AS1 WARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: WARS2-related condition ClinVar PMID:25741868 PMID:28236339 PMID:28492532 PMID:29120065 PMID:30831263 More... NCBI chr 1:119,140,396...119,275,973
Ensembl chr 1:119,140,391...119,275,973 		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 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,264,129...218,270,137
Ensembl chr 2:218,264,129...218,270,178 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,229,806...219,236,679
Ensembl chr 2:219,229,783...219,236,679 		JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,217,189...218,254,348
Ensembl chr 2:218,217,141...218,254,356 		JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,507,093...219,538,772
Ensembl chr 2:219,514,170...219,538,772 		JBrowse link
G ATG9A autophagy related 9A IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,219,380...219,229,636
Ensembl chr 2:219,219,380...219,229,717 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099 		JBrowse link
G CATIP-AS2 CATIP antisense RNA 2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 2:218,326,241...218,357,966
Ensembl chr 2:218,326,889...218,357,966 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,959,666...218,962,155
Ensembl chr 2:218,959,666...218,962,155 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527 		JBrowse link
G CHPF chondroitin polymerizing factor IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,538,954...219,543,809
Ensembl chr 2:219,538,954...219,543,809 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,568,839...218,597,080
Ensembl chr 2:218,568,580...218,597,080 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,171,897...219,178,156
Ensembl chr 2:219,171,897...219,178,106 		JBrowse link
G CRYBA2 crystallin beta A2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,990,190...218,993,422
Ensembl chr 2:218,990,189...218,993,422 		JBrowse link
G CTDSP1 CTD small phosphatase 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,396,351...218,405,941
Ensembl chr 2:218,397,136...218,405,941 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898 		JBrowse link
G DNPEP aspartyl aminopeptidase IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,372,043...219,400,007
Ensembl chr 2:219,372,043...219,400,022 		JBrowse link
G FEV FEV transcription factor, ETS family member IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,981,087...218,985,184
Ensembl chr 2:218,981,087...218,985,184 		JBrowse link
G GLB1L galactosidase beta 1 like IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,236,598...219,245,444
Ensembl chr 2:219,236,598...219,245,478 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G LOC129935594 ATAC-STARR-seq lymphoblastoid active region 17117 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1		 ClinVar PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr 2:218,270,354...218,270,733 JBrowse link
G MIR26B microRNA 26b IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722 		JBrowse link
G MIR375 microRNA 375 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708 		JBrowse link
G MIR6810 microRNA 6810 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:16199547 PMID:28492532 NCBI chr 2:218,341,911...218,341,980
Ensembl chr 2:218,341,911...218,341,980 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G PLCD4 phospholipase C delta 4 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,607,899...218,637,175
Ensembl chr 2:218,607,855...218,637,184 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP
ISS
EXP		 ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
OMIM:118800
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,822,308...218,831,803
Ensembl chr 2:218,822,308...218,832,086 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,289,623...219,309,401
Ensembl chr 2:219,289,623...219,309,648 		JBrowse link
G RESP18 regulated endocrine specific protein 18 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,327,407...219,336,656
Ensembl chr 2:219,327,407...219,333,177 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,178,275...219,185,475
Ensembl chr 2:219,176,225...219,185,475 		JBrowse link
G RNF25 ring finger protein 25 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,663,892...218,672,002
Ensembl chr 2:218,663,892...218,672,002 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,161,465...219,170,029
Ensembl chr 2:219,161,465...219,170,095 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G STK16 serine/threonine kinase 16 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,245,479...219,250,337
Ensembl chr 2:219,245,455...219,250,337 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,274,197...218,292,503
Ensembl chr 2:218,274,197...218,292,586 		JBrowse link
G TMEM198 transmembrane protein 198 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,543,663...219,550,595
Ensembl chr 2:219,543,663...219,550,595 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,710,835...218,759,724
Ensembl chr 2:218,710,835...218,755,416 		JBrowse link
G TUBA4A tubulin alpha 4a IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
G USP37 ubiquitin specific peptidase 37 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,450,251...218,568,351
Ensembl chr 2:218,450,251...218,568,351 		JBrowse link
G VIL1 villin 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,419,123...218,453,295
Ensembl chr 2:218,419,121...218,453,295 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
G WNT6 Wnt family member 6 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,859,805...218,874,233
Ensembl chr 2:218,859,805...218,874,233 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:219,206,782...219,209,648
Ensembl chr 2:219,195,237...219,209,651 		JBrowse link
G ZNF142 zinc finger protein 142 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655 		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 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP
EXP		 ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNMA1-AS1 KCNMA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:25741868 More... NCBI chr10:76,888,044...76,978,593
Ensembl chr10:76,888,044...76,980,624 		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 IAGP
EXP		 ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:925,870...1,012,240
Ensembl chr11:924,881...1,012,245 		JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,389,934...1,462,689
Ensembl chr11:1,389,899...1,462,689 		JBrowse link
G C11orf21 chromosome 11 open reading frame 21 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049 		JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		JBrowse link
G CD81 CD81 molecule IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CDHR5 cadherin related family member 5 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:616,583...624,955
Ensembl chr11:616,577...626,078 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:787,115...790,090
Ensembl chr11:787,115...790,113 		JBrowse link
G CHID1 chitinase domain containing 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:867,859...915,214
Ensembl chr11:867,859...915,058 		JBrowse link
G CRACR2B calcium release activated channel regulator 2B IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:826,157...831,991
Ensembl chr11:826,144...831,991 		JBrowse link
G CTSD cathepsin D IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706 		JBrowse link
G DUSP8 dual specificity phosphatase 8 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,554,051...1,572,848
Ensembl chr11:1,554,051...1,572,271 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:767,222...777,487
Ensembl chr11:767,220...777,488 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia		 ClinVar PMID:1449240 PMID:8298648 PMID:8852666 PMID:9667588 PMID:9886460 More... NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,732,406...1,750,595
Ensembl chr11:1,732,406...1,750,595 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2-AS IGF2 antisense RNA IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,140,512...2,148,666
Ensembl chr11:2,140,501...2,148,666 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 More... NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G IRF7 interferon regulatory factor 7 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:612,555...615,950
Ensembl chr11:612,553...615,983 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1DN KCNQ1 downstream neighbor IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,870,033...2,872,105
Ensembl chr11:2,870,033...2,872,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KRTAP5-1 keratin associated protein 5-1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,584,342...1,585,283
Ensembl chr11:1,584,342...1,585,283 		JBrowse link
G KRTAP5-2 keratin associated protein 5-2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,597,177...1,598,294
Ensembl chr11:1,597,177...1,598,294 		JBrowse link
G KRTAP5-3 keratin associated protein 5-3 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,607,565...1,608,463
Ensembl chr11:1,607,565...1,608,463 		JBrowse link
G KRTAP5-4 keratin associated protein 5-4 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,620,958...1,622,138
Ensembl chr11:1,620,958...1,622,138 		JBrowse link
G KRTAP5-5 keratin associated protein 5-5 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,629,775...1,630,930
Ensembl chr11:1,629,775...1,630,930 		JBrowse link
G KRTAP5-6 keratin associated protein 5-6 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,697,195...1,697,755
Ensembl chr11:1,697,195...1,697,755 		JBrowse link
G LSP1 lymphocyte specific protein 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267 		JBrowse link
G MOB2 MOB kinase activator 2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,469,448...1,486,779
Ensembl chr11:1,469,457...1,501,247 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,947,332...2,014,944
Ensembl chr11:1,947,278...1,984,522 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G PIDD1 p53-induced death domain protein 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLR2L RNA polymerase II, I and III subunit L IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:839,721...842,529
Ensembl chr11:837,356...842,529 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:809,967...812,876
Ensembl chr11:809,965...812,880 		JBrowse link
G SCT secretin IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SYT8 synaptotagmin 8 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,831,784...1,837,521
Ensembl chr11:1,828,307...1,837,521 		JBrowse link
G TALDO1 transaldolase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TH tyrosine hydroxylase IAGP
EXP		 ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia | ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2019643 PMID:7789962 PMID:7814018 PMID:7910484 PMID:7964718 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TMEM80 transmembrane protein 80 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:695,639...705,028
Ensembl chr11:695,591...705,028 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654 		JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514 		JBrowse link
G TSPAN32 tetraspanin 32 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204 		JBrowse link
G TSPAN4 tetraspanin 4 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:842,852...867,111
Ensembl chr11:842,812...867,116 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 IAGP ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878 		JBrowse link
sepiapterin reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129934069 ATAC-STARR-seq lymphoblastoid silent region 11626 IAGP ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency		 ClinVar PMID:15241655 PMID:18414213 PMID:25741868 PMID:28492532 PMID:29147684 NCBI chr 2:72,887,260...72,887,649 JBrowse link
G SPR sepiapterin reductase IAGP
EXP		 ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 More... NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		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 IAGP ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002772 ATAC-STARR-seq lymphoblastoid active region 29122 IAGP ClinVar Annotator: match by term: Dystonia-1, torsion ClinVar PMID:28492532 NCBI chr 9:129,824,021...129,824,330 JBrowse link
G TOR1A torsin family 1 member A IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dystonia-1, torsion
ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion
OMIM:128100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPCA hippocalcin IAGP
EXP		 ClinVar Annotator: match by term: Torsion dystonia 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063295 ATAC-STARR-seq lymphoblastoid silent region 9955 IAGP ClinVar Annotator: match by term: Torsion dystonia 4 ClinVar PMID:3156966 PMID:3405308 PMID:23424103 PMID:23595291 NCBI chr19:6,502,106...6,502,285 JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP
EXP		 ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		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 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G AP3M2 adaptor related protein complex 3 subunit mu 2 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,153,063...42,171,183
Ensembl chr 8:42,152,946...42,171,673 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407 		JBrowse link
G DKK4 dickkopf WNT signaling pathway inhibitor 4 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,374,063...42,391,322
Ensembl chr 8:42,374,063...42,377,229 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G PLAT plasminogen activator, tissue type IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G POLB DNA polymerase beta IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808 		JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195 		JBrowse link
G THAP1 THAP domain containing 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Torsion dystonia 6
OMIM:602629
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G VDAC3 voltage dependent anion channel 3 IAGP ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr 8:42,391,880...42,405,937
Ensembl chr 8:42,391,624...42,405,937 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		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 IAGP
EXP		 ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        Neurologic Manifestations 15470
          Dyskinesias 2694
            dystonia 510
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 1
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Episodic Kinesigenic Dyskinesia + 37
              Juvenile-Onset Dystonia 1
              Leber hereditary optic neuropathy and dystonia 1
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
              Mitochondrial Dystonia 1
              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 58
              Siddiqi syndrome 1
              childhood-onset GLUT1 deficiency syndrome 2 3
              childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
              deafness-dystonia-optic neuronopathy syndrome 3
              dopamine transporter deficiency syndrome + 28
              dystonia 12 4
              dystonia 21 0
              dystonia 22, adult-onset 1
              dystonia 22, juvenile-onset 2
              dystonia 28, childhood-onset 2
              dystonia 30 2
              dystonia 31 1
              dystonia 32 2
              dystonia 33 1
              dystonia 35, childhood-onset 1
              dystonia 37, early-onset with striatal lesions 2
              dystonia 5 18
              dystonia 9 3
              dystonia, DOPA-responsive 4
              early-onset dystonia and/or spastic paraplegia 1
              focal dystonia + 11
              generalized dystonia + 26
              hypermanganesemia with dystonia + 3
              multifocal dystonia + 20
              myoclonic dystonia + 63
              paroxysmal nonkinesigenic dyskinesia 1 57
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 4
              segmental dystonia + 1
              sepiapterin reductase deficiency 2
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        central nervous system disease 23611
          brain disease 22049
            movement disease 3287
              Dyskinesias 2694
                dystonia 510
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 1
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Episodic Kinesigenic Dyskinesia + 37
                  Juvenile-Onset Dystonia 1
                  Leber hereditary optic neuropathy and dystonia 1
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Mitochondrial Dystonia 1
                  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 58
                  Siddiqi syndrome 1
                  childhood-onset GLUT1 deficiency syndrome 2 3
                  childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
                  deafness-dystonia-optic neuronopathy syndrome 3
                  dopamine transporter deficiency syndrome + 28
                  dystonia 12 4
                  dystonia 21 0
                  dystonia 22, adult-onset 1
                  dystonia 22, juvenile-onset 2
                  dystonia 28, childhood-onset 2
                  dystonia 30 2
                  dystonia 31 1
                  dystonia 32 2
                  dystonia 33 1
                  dystonia 35, childhood-onset 1
                  dystonia 37, early-onset with striatal lesions 2
                  dystonia 5 18
                  dystonia 9 3
                  dystonia, DOPA-responsive 4
                  early-onset dystonia and/or spastic paraplegia 1
                  focal dystonia + 11
                  generalized dystonia + 26
                  hypermanganesemia with dystonia + 3
                  multifocal dystonia + 20
                  myoclonic dystonia + 63
                  paroxysmal nonkinesigenic dyskinesia 1 57
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 4
                  segmental dystonia + 1
                  sepiapterin reductase deficiency 2
                  torsion dystonia 17 0
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