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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:dystonia
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Accession:DOID:543 term browser browse the term
Definition:A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)
Synonyms:exact_synonym: Autosomal Recessive Familial Dystonia;   Childhood Onset Dystonia;   Dystonia Disorder;   Dystonic Disorder;   Dystonic Disorders;   Familial Dystonia;   Familial Dystonias;   Hereditary Dystonia;   Hereditary Dystonias;   Idiopathic Familial Dystonia;   Idiopathic Familial Dystonias;   Limb Dystonia;   Muscle Dystonia;   Primary Dystonia;   Primary Dystonias;   Pseudodystonia;   Pseudodystonias;   Psychogenic Dystonia;   Psychogenic Dystonias;   adult onset dystonias;   adult onset idiopathic focal dystonias;   adult onset idiopathic torsion dystonias;   adult-onset dystonia;   autosomal dominant familial dystonia;   childhood onset dystonias;   diurnal dystonia;   dystonia disorders;   dystonic disease;   paroxysmal dystonia;   secondary dystonia;   secondary dystonias;   sporadic dystonia;   sporadic dystonias;   writer cramp;   writer's cramp;   writers cramp
 narrow_synonym: TSPOAP1-RELATED DYSTONIA;   dystonia 1;   regression of motor development with severe dystonia and corresponding basal ganglia lesions
 related_synonym: Dystonia 1, torsion, modifier of
 primary_id: MESH:D004421
 alt_id: MESH:D020821
 xref: ICD10CM:G24;   MIM:PS128100;   MIM:PS128200;   NCI:C34563
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:26467025 PMID:28492532 PMID:32219868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438226 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,583,273...105,687,957
Ensembl chr 9:105,584,065...105,687,911 		JBrowse link
G Ankrd53 ankyrin repeat domain 53 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,245,561...116,253,018
Ensembl chr 4:116,246,955...116,253,017 		JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 3:97,235,671...97,550,090
Ensembl chr 3:97,238,354...97,550,154 		JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070 		JBrowse link
G Arf3 ADP-ribosylation factor 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr 7:129,886,082...129,912,022
Ensembl chr 7:129,886,082...129,912,002 		JBrowse link
G Arfgef3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:33098801 NCBI chr 1:13,245,578...13,404,319
Ensembl chr 1:13,244,830...13,404,084 		JBrowse link
G Asb6 ankyrin repeat and SOCS box-containing 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,110,628...14,115,274
Ensembl chr 3:14,110,628...14,115,242 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin ISO
IAGP		 DNA:insertions, deletion:intron, exons (mouse)
DNA:insertion:intron (rat)		 RGD PMID:14556008 PMID:16246457 RGD:1599348, RGD:5133436 NCBI chr 7:8,487,763...8,511,527
Ensembl chr 7:8,487,763...8,512,663 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO 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 chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 IEP mRNA:increased expression:cerebellar cortex RGD PMID:17092653 RGD:1599351 NCBI chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246 		JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346 		JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374 		JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G C1h2orf78 similar to human chromosome 2 open reading frame 78 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:92,743,788...92,752,219
Ensembl chr 1:92,746,607...92,752,133 		JBrowse link
G C3h9orf50 similar to human chromosome 9 open reading frame 50 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,076,679...14,087,036
Ensembl chr 3:14,080,744...14,086,978 		JBrowse link
G C3h9orf78 similar to human chromosome 9 open reading frame 78 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,264,262...14,272,552
Ensembl chr 3:14,264,083...14,272,764 		JBrowse link
G C4h2orf81 similar to human chromosome 2 open reading frame 81 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,661,617...115,667,929
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:20029458 PMID:25741868 PMID:28139025 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Ccdc142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,606,151...115,616,223
Ensembl chr 4:115,608,485...115,616,216 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		JBrowse link
G Cd207 CD207 molecule ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,155,229...116,161,587
Ensembl chr 4:116,155,212...116,161,518 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322 		JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410 		JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504 		JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956 		JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495 		JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:23222958 PMID:24405754 PMID:25817843 PMID:27123488 PMID:28492532 NCBI chr18:60,740,349...60,742,879 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19404753 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO 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 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
G Clec4f C-type lectin domain family 4, member F ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,129,023...116,138,744
Ensembl chr 4:116,129,023...116,138,775 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions ClinVar PMID:25558065 PMID:25741868 PMID:26643207 PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16702617 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:25741868 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Dok1 docking protein 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465 		JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917 		JBrowse link
G Dolpp1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,666,000...13,674,312
Ensembl chr 3:13,665,823...13,674,311 		JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
Ensembl chr 3:15,856,182...15,869,165 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:8824240 PMID:9536098 PMID:10208638 PMID:17576681 PMID:25711927 More... NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Dusp11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,367,673...118,385,183
Ensembl chr 4:118,368,053...118,385,181 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613 		JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431 		JBrowse link
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272 		JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033 		JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849 		JBrowse link
G Figla folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690 		JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,309,067...14,424,378
Ensembl chr 3:14,309,640...14,424,881 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278 		JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,305,531...86,312,455 JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519 		JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO 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 chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17114051 NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Gnal G protein subunit alpha L ISO
IMP		 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 chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
G Gnalem1Hpng G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng IMP compared to wildtype controls RGD PMID:31678405 RGD:150429833
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279 		JBrowse link
G Gpr107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,431,704...14,497,623
Ensembl chr 3:14,434,723...14,495,958 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,588,353...14,738,320
Ensembl chr 3:14,588,662...14,738,025 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811 		JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Ier5l immediate early response 5-like ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,744,056...13,745,647
Ensembl chr 3:13,744,078...13,745,647 		JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030 		JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Ino80b INO80 complex subunit B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,627,907...115,631,069
Ensembl chr 4:115,627,908...115,631,456 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:27992417 PMID:32581362 PMID:33150406 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355 		JBrowse link
G Lbx2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,591,974...115,593,859
Ensembl chr 4:115,591,974...115,594,132 		JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,636,235...13,658,895
Ensembl chr 3:13,636,238...13,658,896 		JBrowse link
G Mob1a MOB kinase activator 1A ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,831,581...115,848,561
Ensembl chr 4:115,831,551...115,848,561 		JBrowse link
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032 		JBrowse link
G Mphosph10 M-phase phosphoprotein 10 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:117,948,134...117,964,149
Ensembl chr 1:117,948,134...117,964,149 		JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:60,763,418...60,781,553
Ensembl chr18:60,763,419...60,781,553 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Mrpl53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,615,329...115,616,219 JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Dystonia, adult-onset ClinVar PMID:11938495 PMID:12756609 PMID:26467025 PMID:28821228 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24088041 PMID:26633545 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608 		JBrowse link
G Muc15 mucin 15, cell surface associated ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 3:97,294,728...97,308,641
Ensembl chr 3:97,294,783...97,307,090 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669 		JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:56,439,620...56,459,159
Ensembl chr18:56,440,505...56,459,153 		JBrowse link
G Nat8 N-acetyltransferase 8 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,279,521...118,284,671
Ensembl chr 4:118,270,954...118,281,763 		JBrowse link
G Nat8b N-acetyltransferase 8B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,359,445...118,364,351
Ensembl chr 4:118,359,443...118,363,563 		JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,523,220...14,568,829
Ensembl chr 3:14,523,220...14,568,829 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18788921 PMID:24555207 PMID:25741868 PMID:27066577 PMID:28492532 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:26981555 PMID:28492532 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,093,374...14,110,565
Ensembl chr 3:14,093,977...14,110,663 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307 		JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985 		JBrowse link
G Paip2b poly(A) binding protein interacting protein 2B ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,292,001...116,323,387
Ensembl chr 4:116,292,020...116,323,379 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:1734303 PMID:11479594 PMID:12058097 PMID:12510040 PMID:25741868 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pcgf1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Penk proenkephalin IEP mRNA:decreased expression:striatum: RGD PMID:22595488 RGD:10003100 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,535,670...13,553,797
Ensembl chr 3:13,540,056...13,553,797 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:24033266 PMID:28492532 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,350,082...13,363,572
Ensembl chr 3:13,335,041...13,363,567 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 More... NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552 		JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,391,271...105,450,626
Ensembl chr 9:105,391,412...105,450,633 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331 		JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:60,998,898...61,034,821
Ensembl chr18:61,017,764...61,031,883 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:18243799 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909 		JBrowse link
G Prrx2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,132,574...14,168,533
Ensembl chr 3:14,094,004...14,168,535 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192 		JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816 		JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688 		JBrowse link
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549 		JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:25741868 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741 		JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253 		JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,456,425...105,493,235
Ensembl chr 9:105,456,425...105,492,707 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573 		JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:18835386 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651 		JBrowse link
G Rtkn rhotekin ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,640,813...115,657,952
Ensembl chr 4:115,640,774...115,657,952 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25741868 PMID:30755392 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034 		JBrowse link
G Scp2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		JBrowse link
G Set Set nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794 		JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484 		JBrowse link
G Sh3glb2 SH3 domain-containing GRB2-like endophilin B2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,616,936...13,631,785
Ensembl chr 3:13,616,938...13,631,757 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc4a5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,710,101...115,810,330
Ensembl chr 4:115,725,592...115,810,323 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347 		JBrowse link
G Spire1 spire-type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:61,041,914...61,171,670
Ensembl chr18:61,041,290...61,171,899 		JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,451,191...13,458,918
Ensembl chr 3:13,451,202...13,493,355 		JBrowse link
G Spr sepiapterin reductase susceptibility ISO DNA:deletion, transitions
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 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243 		JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496 		JBrowse link
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805 		JBrowse link
G Tbc1d13 TBC1 domain family, member 13 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,408,944...13,425,524
Ensembl chr 3:13,408,920...13,425,517 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tex261 testis expressed 261 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,253,547...116,260,730
Ensembl chr 4:116,244,600...116,260,253 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder
ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:7814018 PMID:8528210 PMID:8817341 PMID:9235905 PMID:9536098 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Thap1 THAP domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:23222958 PMID:32581362 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 susceptibility ISO DNA:mutation:exon; associated with deafness
DNA:deletion:cds:108delG(human)		 RGD PMID:11405816 PMID:11601506 RGD:1600152, RGD:13209134 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642 		JBrowse link
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868 		JBrowse link
G Tor1a torsin family 1, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder		 CTD
ClinVar		 PMID:9288096 PMID:9536098 PMID:11523564 PMID:12391338 PMID:12391355 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
G Tor1b torsin family 1, member B ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,243,181...14,249,279
Ensembl chr 3:14,243,243...14,249,272 		JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634 		JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: TSPOAP1-related Dystonia ClinVar NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479 		JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,230,575...105,235,131
Ensembl chr 9:105,230,578...105,235,126 		JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354 		JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642
Ensembl chr 3:13,092,200...13,117,642 		JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617 		JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:14,272,737...14,306,409
Ensembl chr 3:14,272,908...14,306,409 		JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:25817843 PMID:28492532 NCBI chr 9:105,177,904...105,208,400
Ensembl chr 9:105,177,907...105,207,847 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,195,528...116,219,597
Ensembl chr 4:116,195,528...116,219,594 		JBrowse link
G Wbp1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,625,168...115,627,567
Ensembl chr 4:115,625,168...115,627,624 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Wdr54 WD repeat domain 54 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,654,968...115,677,979
Ensembl chr 4:115,654,968...115,661,562 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:32581362 NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236 		JBrowse link
G Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,363,504...13,366,383
Ensembl chr 3:13,363,504...13,366,474 		JBrowse link
G Zer1 zyg-11 related, cell cycle regulator ISO ClinVar Annotator: match by term: Dystonic disorder ClinVar PMID:28492532 NCBI chr 3:13,369,688...13,397,524
Ensembl chr 3:13,369,688...13,397,420 		JBrowse link
G Zfp638 zinc finger protein 638 ISO ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:116,355,934...116,475,051
Ensembl chr 4:116,402,428...116,479,845 		JBrowse link
Benign Essential Blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 More... NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO DNA:repeat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11781417 PMID:11781417 RGD:734899 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
cervical dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
childhood-onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia ClinVar
OMIM		 PMID:2344855 PMID:9462754 PMID:9536098 PMID:10227690 PMID:10980529 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
classic dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
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:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
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 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898 		JBrowse link
dystonia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism
DNA:deletion:exon:p.S148del, c.443_445delGAG (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 PMID:11061257 More... RGD:11055714 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:missense mutation:p.R632W (human) RGD PMID:19087156 RGD:6482737 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
dystonia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,609,384...61,623,710
Ensembl chr 3:61,608,557...61,623,280 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:28492532 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
dystonia 22, adult-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, adult-onset OMIM
ClinVar		 PMID:33539324 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
dystonia 22, juvenile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Dystonia 22, juvenile-onset OMIM
ClinVar		 PMID:33539324 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
dystonia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:25741868 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
dystonia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonia 24 OMIM
ClinVar		 PMID:11009204 PMID:23200863 PMID:25741868 PMID:27666935 PMID:28492532 More... NCBI chr 3:97,235,671...97,550,090
Ensembl chr 3:97,238,354...97,550,154 		JBrowse link
dystonia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dystonia 25 OMIM
ClinVar		 PMID:23222958 PMID:23449625 PMID:23759320 PMID:24408567 PMID:25741868 More... NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:15689448 PMID:18378883 PMID:18414213 PMID:20981092 PMID:23572247 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
dystonia 28, childhood-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dystonia 28, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:25741878 PMID:27839873 PMID:27992417 PMID:28492532 More... NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
dystonia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Dystonia 30 ClinVar PMID:25741868 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder OMIM
ClinVar		 PMID:25741868 PMID:27174565 PMID:32808683 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
dystonia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Dystonia 31 OMIM
ClinVar		 PMID:25741868 PMID:34596301 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
dystonia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Dystonia 32 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
dystonia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: Dystonia 33 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33236446 PMID:33866603 PMID:35146068 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
dystonia 35, childhood-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor ISO ClinVar Annotator: match by term: Dystonia 35, childhood-onset OMIM
ClinVar		 PMID:34542157 NCBI chr 4:133,213,357...133,305,586
Ensembl chr 4:133,213,361...133,305,586 		JBrowse link
dystonia 37, early-onset with striatal lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions OMIM
ClinVar		 PMID:25741868 PMID:36333996 NCBI chr14:15,617,630...15,636,029
Ensembl chr14:15,617,679...15,636,028 		JBrowse link
dystonia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cdkn3 cyclin-dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945 		JBrowse link
G Cgrrf1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:20,088,564...20,109,042
Ensembl chr15:20,088,571...20,109,037 		JBrowse link
G Cnih1 cornichon family member 1 ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:20,037,885...20,049,857
Ensembl chr15:20,037,885...20,049,761 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant
DNA:nonsense mutation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1449240 PMID:7544125 PMID:7730309 PMID:7869202 PMID:7874165 More... RGD:329970286 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gmfb glia maturation factor, beta ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:20,069,923...20,081,005
Ensembl chr15:20,067,263...20,080,331 		JBrowse link
G Samd4a sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:9667588 PMID:17111153 PMID:19332422 PMID:19491146 PMID:25557619 More... NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Dystonia 5 ClinVar PMID:18554280 PMID:20056467 PMID:24753243 PMID:25741868 PMID:28087438 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO 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: 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 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
Dystonia Musculorum Deformans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
dystonia, DOPA-responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant OMIM
ClinVar		 PMID:7730309 PMID:8852666 PMID:9328244 PMID:9667588 PMID:9886460 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia ClinVar NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mc3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279 		JBrowse link
Episodic Kinesigenic Dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:22515636 PMID:23363396 PMID:24811917 PMID:28492532 NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:25741868 PMID:28492532 PMID:34305802 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2131349 PMID:2825199 PMID:9536098 PMID:11179027 PMID:11346027 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO
ISS		 ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
OMIM:128200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2131349 PMID:2825199 PMID:11179027 PMID:11346027 PMID:14615364 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
episodic kinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 OMIM
ClinVar		 PMID:34518509 PMID:34820915 PMID:34970790 PMID:35587630 PMID:35727387 More... NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
focal dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISS MouseDO NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
generalized dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Dystonia 12 ClinVar PMID:5996915 PMID:8255463 PMID:8733056 PMID:9109901 PMID:9536098 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis		 CTD
ClinVar
OMIM		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
hypermanganesemia with dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 | ClinVar Annotator: match by term: SLC39A14-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 PMID:28541650 PMID:29498153 More... NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
infantile parkinsonism-dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
Juvenile-Onset Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Juvenile-onset dystonia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9714430 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16685654 PMID:17576681 PMID:25741868 More... NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162 		JBrowse link
myoclonic dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:32,658,748...32,739,202 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927 		JBrowse link
G Sgce sarcoglycan, epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254 		JBrowse link
myoclonic dystonia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:32,658,748...32,739,202 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Sgce sarcoglycan, epsilon ISO
ISS		 ClinVar Annotator: match by term: Myoclonic dystonia 11
OMIM:159900		 OMIM
ClinVar
MouseDO		 PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254 		JBrowse link
myoclonic dystonia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412 		JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741 		JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614 		JBrowse link
G Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433 		JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685 		JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 OMIM
ClinVar		 PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927 		JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600 		JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802 		JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851 		JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653 		JBrowse link
G Micall1 MICAL-like 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963 		JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553 		JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474 		JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Myoclonic dystonia 26 ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216 		JBrowse link
myoclonic dystonia 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Dystonia 34, myoclonic OMIM
ClinVar		 PMID:25741868 PMID:32212350 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3c ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures OMIM
ClinVar		 PMID:25741868 PMID:34542157 PMID:36847845 NCBI chr 4:133,213,357...133,305,586
Ensembl chr 4:133,213,361...133,305,586 		JBrowse link
oculogyric crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM:612953		 OMIM
ClinVar
MouseDO		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO
ISS		 ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
OMIM:118800
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:16199547 PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr15:75,786...209,735
Ensembl chr15:75,786...187,837 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism
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
OMIM
ClinVar		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
Segawa Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive ClinVar PMID:1449240 PMID:8298648 PMID:8852666 PMID:9667588 PMID:9886460 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia | ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2019643 PMID:7789962 PMID:7814018 PMID:7910484 PMID:7964718 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
sepiapterin reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 More... NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858 		JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO
ISS		 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		 OMIM
ClinVar
MouseDO
CTD		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Torsion dystonia 2		 OMIM
CTD
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580
Ensembl chr16:69,402,989...69,406,580 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245 		JBrowse link
G Thap1 THAP domain containing 1 ISO
ISS		 ClinVar Annotator: match by term: Torsion dystonia 6
OMIM:602629
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471 		JBrowse link
torsion dystonia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
X-linked dystonia-parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism		 OMIM
CTD
ClinVar		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      nervous system disease 14222
        Neurologic Manifestations 10288
          Dyskinesias 2228
            dystonia 502
              Amyotrophic Dystonic Paraplegia 0
              Bilateral Striatal Necrosis with Dystonia 1
              Dystonia with Cerebellar Atrophy 0
              Dystonia with Ringbinden 0
              Episodic Kinesigenic Dyskinesia + 25
              Juvenile-Onset Dystonia 1
              Leber hereditary optic neuropathy and dystonia 1
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
              Mitochondrial Dystonia 0
              NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES 1
              Parkinson's disease 14 2
              Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
              Segawa Syndrome, Autosomal Recessive 49
              Siddiqi syndrome 1
              childhood-onset GLUT1 deficiency syndrome 2 1
              childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
              deafness-dystonia-optic neuronopathy syndrome 2
              dopamine transporter deficiency syndrome + 23
              dystonia 12 3
              dystonia 21 0
              dystonia 22, adult-onset 1
              dystonia 22, juvenile-onset 1
              dystonia 28, childhood-onset 1
              dystonia 30 2
              dystonia 31 1
              dystonia 32 1
              dystonia 33 1
              dystonia 35, childhood-onset 1
              dystonia 37, early-onset with striatal lesions 1
              dystonia 5 9
              dystonia 9 1
              dystonia, DOPA-responsive 2
              early-onset dystonia and/or spastic paraplegia 1
              episodic kinesigenic dyskinesia 3 1
              focal dystonia + 11
              generalized dystonia + 25
              hypermanganesemia with dystonia + 2
              multifocal dystonia + 6
              myoclonic dystonia + 56
              paroxysmal nonkinesigenic dyskinesia 1 53
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
              segmental dystonia + 1
              sepiapterin reductase deficiency 1
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      nervous system disease 14222
        central nervous system disease 12563
          brain disease 11786
            movement disease 2624
              Dyskinesias 2228
                dystonia 502
                  Amyotrophic Dystonic Paraplegia 0
                  Bilateral Striatal Necrosis with Dystonia 1
                  Dystonia with Cerebellar Atrophy 0
                  Dystonia with Ringbinden 0
                  Episodic Kinesigenic Dyskinesia + 25
                  Juvenile-Onset Dystonia 1
                  Leber hereditary optic neuropathy and dystonia 1
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Mitochondrial Dystonia 0
                  NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES 1
                  Parkinson's disease 14 2
                  Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                  Segawa Syndrome, Autosomal Recessive 49
                  Siddiqi syndrome 1
                  childhood-onset GLUT1 deficiency syndrome 2 1
                  childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
                  deafness-dystonia-optic neuronopathy syndrome 2
                  dopamine transporter deficiency syndrome + 23
                  dystonia 12 3
                  dystonia 21 0
                  dystonia 22, adult-onset 1
                  dystonia 22, juvenile-onset 1
                  dystonia 28, childhood-onset 1
                  dystonia 30 2
                  dystonia 31 1
                  dystonia 32 1
                  dystonia 33 1
                  dystonia 35, childhood-onset 1
                  dystonia 37, early-onset with striatal lesions 1
                  dystonia 5 9
                  dystonia 9 1
                  dystonia, DOPA-responsive 2
                  early-onset dystonia and/or spastic paraplegia 1
                  episodic kinesigenic dyskinesia 3 1
                  focal dystonia + 11
                  generalized dystonia + 25
                  hypermanganesemia with dystonia + 2
                  multifocal dystonia + 6
                  myoclonic dystonia + 56
                  paroxysmal nonkinesigenic dyskinesia 1 53
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
                  segmental dystonia + 1
                  sepiapterin reductase deficiency 1
                  torsion dystonia 17 0
paths to the root