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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Dystonia
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Accession:HP:0001332 term browser browse the term
Definition:An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Synonyms:exact_synonym: Dystonic movements
 related_synonym: Dystonic disease
 alt_id: HP:0002328
 xref: UMLS:C0013421;   UMLS:C4020871


show annotations for term's descendants           Sort by:
Dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:619661 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO ORPHA:26792 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACER3 alkaline ceramidase 3 IAGP HPO MIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO MIM:264470 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO MIM:615010 ORPHA:225154 ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 MIM:606703 MIM:619647 MIM:619651 ORPHA:324588 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO MIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:25741868 PMID:25817843 PMID:26467025 PMID:28492532 PMID:32219868 MIM:610246 MIM:614487 ORPHA:101109 ORPHA:313772 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO MIM:618276 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:205100 ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,136,781...9,285,985
Ensembl chr18:9,136,228...9,285,985 		JBrowse link
G ANKRD53 ankyrin repeat domain 53 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,978,445...70,985,499
Ensembl chr 2:70,978,380...70,985,499 		JBrowse link
G ANKRD62 ankyrin repeat domain 62 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,093,843...12,181,684
Ensembl chr18:12,093,843...12,129,764 		JBrowse link
G ANO3 anoctamin 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO MIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO MIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G APCDD1 APC down-regulated 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,454,635...10,489,949
Ensembl chr18:10,454,635...10,489,949 		JBrowse link
G APOE apolipoprotein E IAGP HPO MIM:607822 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APTX aprataxin IAGP HPO MIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AQP4 aquaporin 4 IAGP HPO MIM:620448 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G ARF3 ARF GTPase 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 NCBI chr12:48,935,723...48,957,487
Ensembl chr12:48,935,723...48,957,487 		JBrowse link
G ARFGEF3 ARFGEF family member 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:33098801 NCBI chr 6:138,161,939...138,344,663
Ensembl chr 6:138,161,939...138,344,663 		JBrowse link
G ARSA arylsulfatase A IAGP HPO MIM:250100 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP HPO MIM:617020 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:308350 ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,634,605...129,642,151
Ensembl chr 9:129,634,604...129,642,169 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:617183 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP HPO MIM:601238 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082 		JBrowse link
G ATG7 autophagy related 7 IAGP HPO MIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:125370 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:606693 ORPHA:314632 ORPHA:513436 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:104290 ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... MIM:128235 MIM:601338 MIM:614820 ORPHA:1171 ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:620358 ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP HPO MIM:619681 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP IAGP HPO MIM:620359 NCBI chr21:33,903,453...33,915,804
Ensembl chr21:33,903,453...33,915,814 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO ORPHA:98755 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:109150 MIM:168600 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN8 ataxin 8 IAGP HPO ORPHA:98760
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 ORPHA:98760 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO MIM:250950 ORPHA:67046 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G AUP1 AUP1 lipid droplet regulating VLDL assembly factor IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,526,652...74,529,706
Ensembl chr 2:74,526,645...74,529,760 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO MIM:609195 ORPHA:101006 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,160,265...128,163,924
Ensembl chr 9:128,160,265...128,163,924 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO MIM:300475 ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO MIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase IAGP HPO MIM:614923 NCBI chr16:31,108,386...31,117,640
Ensembl chr16:31,106,107...31,112,791 		JBrowse link
G BOLA3 bolA family member 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:615924 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Dystonic movements
ClinVar Annotator: match by term: Dystonia		 ClinVar
HPO		 PMID:21981780 PMID:23269600 PMID:23494994 PMID:23857908 PMID:24033266 More... MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C2orf78 chromosome 2 open reading frame 78 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,784,183...73,817,148
Ensembl chr 2:73,784,183...73,817,148 		JBrowse link
G C2orf81 chromosome 2 open reading frame 81 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,414,177...74,421,619
Ensembl chr 2:74,414,176...74,421,619 		JBrowse link
G C9orf50 chromosome 9 open reading frame 50 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,612,225...129,621,924
Ensembl chr 9:129,612,225...129,621,101 		JBrowse link
G C9orf78 chromosome 9 open reading frame 78 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,827,290...129,835,275
Ensembl chr 9:129,827,290...129,835,863 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO MIM:108500 ORPHA:2131 ORPHA:97 ORPHA:98758 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO MIM:618497 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP HPO MIM:618285 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO MIM:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616672 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:20029458 PMID:25741868 PMID:28139025 ORPHA:163937 ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCDC142 coiled-coil domain containing 142 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,472,832...74,482,998
Ensembl chr 2:74,471,986...74,483,408 		JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,234,308...73,253,005
Ensembl chr 2:73,233,420...73,253,021 		JBrowse link
G CD207 CD207 molecule IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,824,130...70,835,816
Ensembl chr 2:70,830,211...70,835,816 		JBrowse link
G CD22 CD22 molecule IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,329,187...35,347,361
Ensembl chr19:35,319,261...35,347,361 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 ORPHA:3095 ORPHA:505652 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CEP76 centrosomal protein 76 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,661,956...12,702,777
Ensembl chr18:12,661,833...12,702,777 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,419,160...128,437,351
Ensembl chr 9:128,411,751...128,437,351 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002 		JBrowse link
G CHMP1B charged multivesicular body protein 1B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:23222958 PMID:24405754 PMID:25817843 PMID:27123488 PMID:28492532 NCBI chr18:11,851,413...11,854,444
Ensembl chr18:11,851,413...11,854,444 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO MIM:600795 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit IAGP HPO MIM:610353 NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		JBrowse link
G CHROMR cholesterol induced regulator of metabolism RNA IAGP ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr 2:178,413,659...178,440,243
Ensembl chr 2:178,413,476...178,442,854 		JBrowse link
G CIDEA cell death inducing DFFA like effector a IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,254,361...12,277,595
Ensembl chr18:12,254,361...12,277,595 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22447717 PMID:25741868 More... NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO MIM:272440 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO MIM:300114 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CLEC4F C-type lectin domain family 4 member F IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,808,643...70,825,235
Ensembl chr 2:70,808,643...70,820,599 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO MIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO MIM:615643 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COPB1 COPI coat complex subunit beta 1 IAGP HPO MIM:619255 NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027 		JBrowse link
G COQ4 coenzyme Q4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:28492532 MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G COQ8A coenzyme Q8A IAGP HPO ORPHA:139485 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G COQ9 coenzyme Q9 IAGP HPO MIM:614654 NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CRAT carnitine O-acetyltransferase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
G CRLS1 cardiolipin synthase 1 IAGP HPO MIM:620167 NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CUX2 cut like homeobox 2 IAGP HPO MIM:618141 NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554 		JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP HPO MIM:616127 ORPHA:453521 NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO MIM:615030 ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO MIM:618910 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO MIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:25741868 More... MIM:168605 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DDC dopa decarboxylase IAGP HPO ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP HPO MIM:618404 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO MIM:617836 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO MIM:245348 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G DLD dihydrolipoamide dehydrogenase IAGP HPO MIM:246900 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G DLG5 discs large MAGUK scaffold protein 5 IAGP HPO MIM:620703 NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755 		JBrowse link
G DMKN dermokine IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,497,220...35,513,649
Ensembl chr19:35,497,220...35,513,658 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO MIM:616113 ORPHA:1934 ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 IAGP HPO MIM:617384 NCBI chr10:67,796,669...67,838,188
Ensembl chr10:67,796,669...67,838,188 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP HPO ORPHA:411602 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO MIM:615528 ORPHA:2828 ORPHA:391411 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:330050 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DOK1 docking protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,549,105...74,557,551
Ensembl chr 2:74,549,026...74,557,551 		JBrowse link
G DOLK dolichol kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DOLPP1 dolichyldiphosphatase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,081,111...129,090,438
Ensembl chr 9:129,081,111...129,090,438 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281 		JBrowse link
G DRD2 dopamine receptor D2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:8824240 PMID:9536098 PMID:10208638 PMID:17576681 PMID:25711927 More... ORPHA:36899 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G DUSP11 dual specificity phosphatase 11 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,762,213...73,780,149
Ensembl chr 2:73,761,782...73,780,173 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 IAGP HPO MIM:616277 NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP HPO ORPHA:530 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989 		JBrowse link
G EGR4 early growth response 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,290,929...73,293,548
Ensembl chr 2:73,290,929...73,293,701 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:618877 MIM:619687 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO ORPHA:411602 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EMX1 empty spiracles homeobox 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,916,189...72,934,891
Ensembl chr 2:72,916,260...72,936,071 		JBrowse link
G ENDOG endonuclease G IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,818,500...128,822,676
Ensembl chr 9:128,818,500...128,822,676 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO MIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G ETV2 ETS variant transcription factor 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871 		JBrowse link
G EXOC6B exocyst complex component 6B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO MIM:612319 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FAM187B family with sequence similarity 187 member B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,224,800...35,228,739
Ensembl chr19:35,224,800...35,228,739 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:466722 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FBLN1 fibulin 1 IAGP HPO ORPHA:404451 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO41 F-box protein 41 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,254,690...73,284,478
Ensembl chr 2:73,254,682...73,284,478 		JBrowse link
G FBXO7 F-box protein 7 IAGP HPO MIM:260300 ORPHA:171695 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G FFAR1 free fatty acid receptor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,347,902...35,353,864
Ensembl chr19:35,347,902...35,353,864 		JBrowse link
G FFAR2 free fatty acid receptor 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,448,257...35,451,767
Ensembl chr19:35,443,907...35,451,767 		JBrowse link
G FFAR3 free fatty acid receptor 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,358,151...35,360,489
Ensembl chr19:35,358,460...35,360,489 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,777,310...70,790,643
Ensembl chr 2:70,777,310...70,790,643 		JBrowse link
G FNBP1 formin binding protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,887,187...130,053,879
Ensembl chr 9:129,887,187...130,043,189 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO MIM:613454 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,802,858...127,814,506
Ensembl chr 9:127,794,597...127,814,494 		JBrowse link
G FRMD5 FERM domain containing 5 IAGP HPO MIM:620094 NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271 		JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP HPO ORPHA:725 NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G FUBP3 far upstream element binding protein 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,579,577...130,638,352
Ensembl chr 9:130,578,965...130,638,352 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:25741868 ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109 		JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324 		JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,154,735...35,169,881
Ensembl chr19:35,154,730...35,171,791 		JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,143,255...35,154,302
Ensembl chr19:35,143,250...35,154,302 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO MIM:617903 ORPHA:3095 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO MIM:617829 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase IAGP HPO ORPHA:382 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570 		JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 ORPHA:411602 ORPHA:77260 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:8619546 PMID:16199547 PMID:19491146 PMID:25741868 PMID:28492532 MIM:128230 MIM:233910 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GCSH glycine cleavage system protein H IAGP HPO MIM:620423 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP HPO ORPHA:411602 NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:25741868 PMID:32581362 MIM:608804 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230650 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Dystonia HPO
ClinVar		 PMID:28492532 MIM:611890 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GM2A ganglioside GM2 activator IAGP HPO MIM:272750 ORPHA:309246 NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440 		JBrowse link
G GNAL G protein subunit alpha L IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9536098 PMID:17576681 PMID:23222958 PMID:23449625 PMID:23759320 More... NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:615473 MIM:617493 ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Dystonic movements
ClinVar Annotator: match by term: Dystonia		 ClinVar
HPO		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... MIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GOLGA2 golgin A2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GPR107 G protein-coupled receptor 107 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,053,906...130,140,164
Ensembl chr 9:130,053,426...130,140,169 		JBrowse link
G GPR42 G protein-coupled receptor 42 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,371,068...35,372,962
Ensembl chr19:35,371,068...35,372,962 		JBrowse link
G GPRC5B G protein-coupled receptor class C group 5 member B IAGP HPO MIM:620447 NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167 		JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 IAGP HPO MIM:618917 NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:614254 MIM:617820 ORPHA:1934 ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:725 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP HPO MIM:613970 MIM:616139 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G GSX2 GS homeobox 2 IAGP HPO MIM:618646 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:616756 ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,612,735...35,625,355
Ensembl chr19:35,612,735...35,625,355 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309169 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO MIM:250620 ORPHA:88639 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP HPO MIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		JBrowse link
G HMCN2 hemicentin 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,265,760...130,434,123
Ensembl chr 9:130,265,760...130,434,123 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HPN hepsin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,040,506...35,066,573
Ensembl chr19:35,040,506...35,066,573 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO MIM:300322 ORPHA:79233 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,754,566...35,757,029
Ensembl chr19:35,754,566...35,758,079 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... MIM:617248 ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G HTT huntingtin IAGP HPO MIM:617435 ORPHA:248111 ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IER5L immediate early response 5 like IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,175,552...129,178,261
Ensembl chr 9:129,175,552...129,178,261 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IGFLR1 IGF like family receptor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,738,801...35,742,452
Ensembl chr19:35,738,801...35,742,453 		JBrowse link
G IMPA2 inositol monophosphatase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,981,507...12,030,877
Ensembl chr18:11,981,025...12,030,877 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INO80B INO80 complex subunit B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,455,087...74,457,944
Ensembl chr 2:74,455,087...74,457,944 		JBrowse link
G IREB2 iron responsive element binding protein 2 IAGP HPO MIM:618451 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like IAGP HPO MIM:618088 NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G JPH3 junctophilin 3 IAGP HPO MIM:606438 ORPHA:98934 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO MIM:619196 ORPHA:3240 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO MIM:616268 ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 ORPHA:98809 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNA4 potassium voltage-gated channel subfamily A member 4 IAGP HPO MIM:618284 NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO MIM:618729 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO MIM:619724 MIM:619725 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO MIM:613720 ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 ORPHA:36899 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:32581362 PMID:33150406 MIM:617284 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,487,324...35,490,464
Ensembl chr19:35,487,324...35,495,558 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,832,942...128,882,523
Ensembl chr 9:128,832,942...128,882,494
Ensembl chr 9:128,832,942...128,882,494 		JBrowse link
G LBX2 ladybird homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,497,517...74,503,316
Ensembl chr 2:74,497,517...74,503,316 		JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,748,576...35,754,519
Ensembl chr19:35,748,361...35,754,519 		JBrowse link
G LINC02913 long intergenic non-protein coding RNA 2913 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,321,016...129,322,603
Ensembl chr 9:129,321,016...129,324,905 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:49,077,189...49,078,388 JBrowse link
G LOC129934069 ATAC-STARR-seq lymphoblastoid silent region 11626 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:22522443 PMID:25741868 PMID:28492532 PMID:29147684 NCBI chr 2:72,887,260...72,887,649 JBrowse link
G LOC130002772 ATAC-STARR-seq lymphoblastoid active region 29122 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,824,021...129,824,330 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:2828 ORPHA:411602 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964 		JBrowse link
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 ORPHA:240071 ORPHA:240085 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611390 ORPHA:314603 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MAT1A methionine adenosyltransferase 1A IAGP HPO MIM:250850 NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658 		JBrowse link
G MCEE methylmalonyl-CoA epimerase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO MIM:617339 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300055 MIM:312750 ORPHA:3095 ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO MIM:617282 ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MED23 mediator complex subunit 23 IAGP HPO MIM:614249 NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242 		JBrowse link
G MED27 mediator complex subunit 27 IAGP HPO MIM:619286 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO MIM:615673 ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MIGA2 mitoguardin 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,036,626...129,072,082
Ensembl chr 9:129,036,621...129,072,082 		JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830 		JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007 		JBrowse link
G MMADHC metabolism of cobalamin associated D IAGP HPO MIM:277410 NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MOB1A MOB kinase activator 1A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,152,528...74,178,879
Ensembl chr 2:74,152,528...74,178,898 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPHOSPH10 M-phase phosphoprotein 10 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,130,634...71,150,101
Ensembl chr 2:71,130,310...71,150,101 		JBrowse link
G MPPE1 metallophosphoesterase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,882,622...11,908,317
Ensembl chr18:11,882,622...11,908,366 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Dystonic movements
ClinVar Annotator: match by term: Dystonia		 ClinVar
HPO		 PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... MIM:604391 ORPHA:251347 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MRPL53 mitochondrial ribosomal protein L53 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,471,982...74,472,680
Ensembl chr 2:74,471,982...74,472,687 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP HPO MIM:617664 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO MIM:535000 ORPHA:225154 ORPHA:254913 ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO MIM:535000 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO MIM:535000 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:15466014 PMID:16969869 PMID:17562939 PMID:20301353 PMID:24830958 More... MIM:535000 ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO MIM:535000 ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:28027978 MIM:535000 ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP HPO MIM:535000 NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO MIM:535000 ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Dystonia HPO
ClinVar		 PMID:24088041 PMID:26633545 PMID:34045482 MIM:535000 ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,198,615...74,217,565
Ensembl chr 2:74,186,172...74,217,565 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP HPO MIM:614702 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MUC15 mucin 15, cell surface associated IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr11:26,559,032...26,572,263
Ensembl chr11:26,559,032...26,572,263 		JBrowse link
G MYO5A myosin VA IAGP ClinVar Annotator: match by term: Dystonia ClinVar NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO MIM:616034 ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NAGK N-acetylglucosamine kinase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,068,296...71,079,808
Ensembl chr 2:71,064,344...71,079,808 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,061,233...128,067,320
Ensembl chr 9:128,061,233...128,068,206 		JBrowse link
G NAPG NSF attachment protein gamma IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,526,027...10,552,764
Ensembl chr18:10,525,905...10,552,764 		JBrowse link
G NAT8 N-acetyltransferase 8 (putative) IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,640,723...73,642,422
Ensembl chr 2:73,640,723...73,642,422 		JBrowse link
G NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,700,509...73,702,125
Ensembl chr 2:73,700,576...73,701,340 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NBEA neurobeachin IAGP HPO MIM:619157 NCBI chr13:34,942,270...35,672,736
Ensembl chr13:34,942,270...35,673,022 		JBrowse link
G NCS1 neuronal calcium sensor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,172,404...130,237,303
Ensembl chr 9:130,172,404...130,237,303 		JBrowse link
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 IAGP HPO MIM:618244 NCBI chr12:94,971,333...95,003,697
Ensembl chr12:94,895,297...95,003,748 		JBrowse link
G NDUFA4 NDUFA4 mitochondrial complex associated IAGP HPO MIM:619065 NCBI chr 7:10,931,943...10,940,153
Ensembl chr 7:10,931,943...10,940,153 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP HPO MIM:618247 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO MIM:618237 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO MIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO MIM:618239 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO MIM:618226 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO MIM:618230 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO MIM:618224 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO MIM:618222 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO MIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,505,343...127,579,031
Ensembl chr 9:127,505,339...127,578,989 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO MIM:610978 ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 ORPHA:527497 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NOTO notochord homeobox IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,202,574...73,212,513
Ensembl chr 2:73,202,574...73,212,513 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:25741868 PMID:26981555 PMID:28492532 MIM:257220 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP HPO MIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 MIM:619911 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,608,872...129,636,135
Ensembl chr 9:129,608,884...129,636,135 		JBrowse link
G NTNG1 netrin G1 IAGP HPO ORPHA:3095 NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923 		JBrowse link
G NUP188 nucleoporin 188 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO MIM:271930 ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G OCLN occludin IAGP HPO MIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,455,185...128,501,292
Ensembl chr 9:128,455,186...128,501,292 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OGDH oxoglutarate dehydrogenase IAGP HPO MIM:203740 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066 		JBrowse link
G PAIP2B poly(A) binding protein interacting protein 2B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,182,738...71,227,103
Ensembl chr 2:71,182,738...71,227,103 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:1734303 PMID:11479594 PMID:12058097 PMID:12510040 PMID:25741868 More... MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PCDH12 protocadherin 12 IAGP HPO MIM:251280 NCBI chr 5:141,943,581...141,958,202
Ensembl chr 5:141,943,581...141,969,741 		JBrowse link
G PCGF1 polycomb group ring finger 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,505,043...74,507,695
Ensembl chr 2:74,505,043...74,507,695 		JBrowse link
G PDE2A phosphodiesterase 2A IAGP HPO MIM:619150 ORPHA:31709 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:213600 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO MIM:312170 ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO MIM:245349 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,920,982...128,942,041
Ensembl chr 9:128,920,966...128,942,041 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO ORPHA:64753 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO MIM:605909 ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PKN3 protein kinase N3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,702,503...128,720,916
Ensembl chr 9:128,702,503...128,720,916 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:610217 MIM:612953 ORPHA:199351 ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP HPO MIM:616763 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 ORPHA:280219 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMPCB peptidase, mitochondrial processing subunit beta IAGP HPO MIM:617954 NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO MIM:616267 ORPHA:1934 ORPHA:459033 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PNPLA4 patatin like phospholipase domain containing 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:7,898,247...7,927,724
Ensembl chr  X:7,898,247...7,927,739 		JBrowse link
G PNPLA8 patatin like phospholipase domain containing 8 IAGP HPO MIM:251950 NCBI chr 7:108,470,417...108,528,178
Ensembl chr 7:108,470,417...108,569,666 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:614932 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 ORPHA:391411 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:258450 ORPHA:254881 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:620675 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:607694 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLR3K RNA polymerase III subunit K IAGP HPO MIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO MIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,546,794...9,617,199
Ensembl chr18:9,546,791...9,615,240 		JBrowse link
G PRADC1 protease associated domain containing 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,228,006...73,233,284
Ensembl chr 2:73,228,010...73,233,239 		JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986 		JBrowse link
G PRELID3A PRELI domain containing 3A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,407,929...12,432,238
Ensembl chr18:12,407,896...12,432,238 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PROSER3 proline and serine rich 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,758,176...35,771,166
Ensembl chr19:35,758,143...35,771,166 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:31709 ORPHA:98809 ORPHA:98810 ORPHA:98811 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PRRX2 paired related homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,665,647...129,722,674
Ensembl chr 9:129,665,647...129,722,674 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:139406 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:607822 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PTGES prostaglandin E synthase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042 		JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,110,950...129,148,946
Ensembl chr 9:129,110,950...129,148,946 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,694,150...127,715,676
Ensembl chr 9:127,690,348...127,724,873 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase IAGP HPO MIM:261640 ORPHA:13 NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G PUDP pseudouridine 5'-phosphatase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:6,705,838...7,148,153
Ensembl chr  X:6,667,865...7,148,158 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:438216 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G QDPR quinoid dihydropteridine reductase IAGP HPO MIM:261630 NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,073,382...73,112,948
Ensembl chr 2:73,073,382...73,156,721 		JBrowse link
G RAB31 RAB31, member RAS oncogene family IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,708,301...9,862,551
Ensembl chr18:9,708,275...9,862,551 		JBrowse link
G RALBP1 ralA binding protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,475,009...9,538,114
Ensembl chr18:9,475,009...9,538,114 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO MIM:616140 ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G RBM42 RNA binding motif protein 42 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,629,036...35,637,685
Ensembl chr19:35,629,030...35,637,686 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO MIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:18835386 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO MIM:610181 ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO MIM:610329 ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNASET2 ribonuclease T2 IAGP HPO MIM:612951 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RTKN rhotekin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,425,835...74,441,937
Ensembl chr 2:74,425,835...74,442,422 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25741868 PMID:30755392 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SBSN suprabasin IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,523,367...35,528,311
Ensembl chr19:35,523,367...35,528,351 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO MIM:619317 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO MIM:618924 ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO MIM:618364 ORPHA:31709 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCP2 sterol carrier protein 2 IAGP HPO MIM:613724 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:252011 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:619224 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SERAC1 serine active site containing 1 IAGP HPO MIM:614739 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:28492532 MIM:606002 ORPHA:64753 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SFXN5 sideroflexin 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:72,942,036...73,071,712
Ensembl chr 2:72,942,036...73,075,619 		JBrowse link
G SGCE sarcoglycan epsilon IAGP HPO ORPHA:36899 NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710 		JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,007,036...129,028,331
Ensembl chr 9:129,007,036...129,028,331 		JBrowse link
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor IAGP HPO MIM:619921 MIM:619922 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO MIM:615905 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO MIM:618049 ORPHA:352649 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO MIM:607483 ORPHA:263410 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,068,232...128,109,245
Ensembl chr 9:128,068,201...128,109,245 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 IAGP HPO MIM:618416 NCBI chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Dystonic movements
ClinVar Annotator: match by term: Dystonia		 ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:601042 MIM:612126 ORPHA:53583 ORPHA:71277 ORPHA:98811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: Dystonic movements
ClinVar Annotator: match by term: Dystonia		 ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,028...42,996,814 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO MIM:613280 ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO MIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO MIM:620774 ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC35G4 solute carrier family 35 member G4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:11,609,596...11,610,612
Ensembl chr18:11,609,596...11,610,612 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO MIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G SLC4A5 solute carrier family 4 member 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,216,242...74,343,416
Ensembl chr 2:74,216,242...74,343,416 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO MIM:613135 ORPHA:238455 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:3095 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMYD5 SMYD family member 5 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,214,245...73,227,221
Ensembl chr 2:73,214,222...73,227,221 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP HPO MIM:620515 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNCA synuclein alpha IAGP HPO MIM:168601 ORPHA:171695 ORPHA:2828 ORPHA:411602 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO MIM:614561 ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,446,512...12,662,091
Ensembl chr18:12,446,512...12,658,107 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO MIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,819,651...128,829,794
Ensembl chr 9:128,819,651...128,829,794 		JBrowse link
G SPR sepiapterin reductase IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:9536098 PMID:11443547 PMID:15241655 PMID:16697227 PMID:16752391 More... MIM:612716 ORPHA:70594 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Dystonia HPO
ClinVar		 PMID:28492532 MIM:620538 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP HPO MIM:620416 MIM:620417 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO MIM:617145 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G STAMBP STAM binding protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO MIM:617341 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
G STS steroid sulfatase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO MIM:618093 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Dystonia HPO
ClinVar		 PMID:28492532 ORPHA:599373 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO MIM:612073 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO MIM:616684 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,275,356...128,288,989
Ensembl chr 9:128,275,379...128,316,123 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:615530 MIM:617389 ORPHA:2828 ORPHA:391411 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO MIM:618218 ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO MIM:616878 ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBC1D13 TBC1 domain family member 13 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,787,253...128,810,430
Ensembl chr 9:128,787,253...128,810,430 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:615338 ORPHA:352596 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 MIM:607136 ORPHA:98759 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
G TEX261 testis expressed 261 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,985,942...70,994,873
Ensembl chr 2:70,968,325...70,994,873 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO MIM:142946 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:9703425 PMID:10407773 PMID:20430833 PMID:20823027 PMID:25741868 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:32581362 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP associated with Mohr-Tranebjaerg Syndrome; DNA:mutation:intron:IVS1-23A>C(human) HPO
RGD		 PMID:15710860 MIM:304700 ORPHA:52368, RGD:13209130 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TLX2 T cell leukemia homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,514,450...74,517,148
Ensembl chr 2:74,513,463...74,517,148 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO MIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP HPO MIM:620245 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TMEM163 transmembrane protein 163 IAGP HPO MIM:620243 NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP HPO MIM:607454 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM63C transmembrane protein 63C IAGP HPO MIM:619966 NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:9288096 PMID:9536098 PMID:11523564 PMID:16199547 PMID:17503336 More... MIM:618947 ORPHA:36899 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TOR1B torsin family 1 member B IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,803,184...129,811,281
Ensembl chr 9:129,803,157...129,811,281 		JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,731,524...127,735,294
Ensembl chr 9:127,731,524...127,735,313 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO MIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G TPK1 thiamin pyrophosphokinase 1 IAGP HPO MIM:614458 NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395 		JBrowse link
G TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO MIM:615356 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO MIM:617669 ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 IAGP HPO MIM:617873 NCBI chr 1:39,838,110...39,883,511
Ensembl chr 1:39,838,110...39,883,511 		JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,305,159...128,322,447
Ensembl chr 9:128,305,159...128,322,447 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO MIM:612389 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO MIM:612390 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO MIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO MIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP HPO ORPHA:98767 NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:127,716,079...127,731,590
Ensembl chr 9:127,716,079...127,731,590 		JBrowse link
G TTC19 tetratricopeptide repeat domain 19 IAGP HPO MIM:615157 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015 		JBrowse link
G TTC31 tetratricopeptide repeat domain 31 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,483,081...74,494,559
Ensembl chr 2:74,483,073...74,494,559 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO MIM:277460 ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Dystonic movements ClinVar
HPO		 MIM:612438 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBB6 tubulin beta 6 class V IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,334,773...9,402,420
Ensembl chr18:9,334,767...9,402,420 		JBrowse link
G TXN2 thioredoxin 2 IAGP HPO MIM:616811 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,885,973...9,889,275
Ensembl chr18:9,885,766...9,889,275 		JBrowse link
G U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,742,464...35,745,418
Ensembl chr19:35,742,464...35,745,445 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO MIM:617132 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP HPO MIM:618418 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO MIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO MIM:617672 ORPHA:500180 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UFM1 ubiquitin fold modifier 1 IAGP HPO MIM:617899 NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP HPO MIM:618792 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G UPB1 beta-ureidopropionase 1 IAGP HPO MIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390 		JBrowse link
G UPK1A uroplakin 1A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,666,517...35,678,481
Ensembl chr19:35,666,517...35,678,481 		JBrowse link
G UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII IAGP HPO MIM:615159 NCBI chr 5:132,866,642...132,868,847
Ensembl chr 5:132,866,630...132,868,847 		JBrowse link
G URM1 ubiquitin related modifier 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,371,319...128,392,016
Ensembl chr 9:128,371,361...128,392,016 		JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,268,962...35,279,821
Ensembl chr19:35,268,962...35,279,821 		JBrowse link
G USP20 ubiquitin specific peptidase 20 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:129,835,458...129,881,828
Ensembl chr 9:129,834,698...129,881,828 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO MIM:617054 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO MIM:108600 ORPHA:251282 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP HPO MIM:618760 NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546 		JBrowse link
G VAPA VAMP associated protein A IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:25817843 PMID:28492532 NCBI chr18:9,914,016...9,960,021
Ensembl chr18:9,914,016...9,960,021 		JBrowse link
G VAX2 ventral anterior homeobox 2 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:70,900,576...70,933,446
Ensembl chr 2:70,900,576...70,965,373 		JBrowse link
G VCP valosin containing protein IAGP HPO MIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VCX variable charge X-linked IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr  X:7,842,262...7,844,143
Ensembl chr  X:7,842,262...7,844,143 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO MIM:200150 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP HPO MIM:607317 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
G VPS35 VPS35 retromer complex component IAGP HPO ORPHA:411602 NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP HPO MIM:614898 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP HPO MIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO MIM:617710 MIM:619738 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WBP1 WW domain binding protein 1 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,458,438...74,460,881
Ensembl chr 2:74,458,400...74,460,891 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:32581362 MIM:300894 ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G WDR54 WD repeat domain 54 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:74,421,730...74,425,755
Ensembl chr 2:74,421,678...74,425,755 		JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Dystonia ClinVar
HPO		 PMID:32581362 MIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO MIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:32581362 NCBI chr19:35,704,558...35,717,038
Ensembl chr19:35,704,558...35,717,038 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,720,873...128,724,127
Ensembl chr 9:128,720,870...128,724,127 		JBrowse link
G ZER1 zyg-11 related cell cycle regulator IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:28492532 NCBI chr 9:128,729,786...128,772,486
Ensembl chr 9:128,729,786...128,772,414 		JBrowse link
G ZNF142 zinc finger protein 142 IAGP HPO MIM:618425 NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655 		JBrowse link
G ZNF638 zinc finger protein 638 IAGP ClinVar Annotator: match by term: Dystonia ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 2:71,331,782...71,435,061
Ensembl chr 2:71,276,561...71,435,069 		JBrowse link
Arm dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:205100 ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO MIM:615034 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:601338 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:88644 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
Axial dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO ORPHA:227510 ORPHA:98933 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:619687 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:601104 ORPHA:240071 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO MIM:618230 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:612953 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP HPO MIM:604326 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
Blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:616339 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO MIM:615034 ORPHA:420485 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G ATN1 atrophin 1 IAGP HPO ORPHA:101 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:98758 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G CP ceruloplasmin IAGP HPO MIM:604290 ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:352582 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP HPO ORPHA:98976 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G DDC dopa decarboxylase IAGP HPO MIM:608643 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DRD5 dopamine receptor D5 IAGP HPO MIM:606798 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:794 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G HPCA hippocalcin IAGP HPO MIM:224500 ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO ORPHA:98976 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240071 ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO MIM:617282 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MYOC myocilin IAGP HPO ORPHA:98976 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO MIM:606324 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 IAGP HPO MIM:607876 NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,827 		JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 IAGP HPO ORPHA:98957 NCBI chr 1:58,575,433...58,577,252
Ensembl chr 1:58,575,433...58,577,252 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:352582 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBP TATA-box binding protein IAGP HPO ORPHA:98759 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP HPO ORPHA:98976 NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Craniofacial dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:619691 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:71517 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO MIM:617282 ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO MIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO MIM:607483 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO MIM:617054 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Focal dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447757 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:309510 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309169 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240103 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:199351 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PRKCG protein kinase C gamma IAGP HPO MIM:605361 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TH tyrosine hydroxylase IAGP HPO ORPHA:101150 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620456 ORPHA:101150 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
Generalized dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:607371 ORPHA:79107 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:205100 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:620358 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO MIM:245348 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HPCA hippocalcin IAGP HPO ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO MIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar
HPO		 PMID:25741868 PMID:27992417 PMID:32581362 ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO ORPHA:70472 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP HPO MIM:619025 NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO MIM:618239 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO MIM:620427 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SUOX sulfite oxidase IAGP HPO MIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Generalized dystonia ClinVar
HPO		 PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 More... ORPHA:101150 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 ORPHA:101150 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
Hemidystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO MIM:619680 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP HPO MIM:619052 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
Laryngeal dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP HPO MIM:619681 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Leg dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:607371 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO MIM:620427 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO MIM:606324 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Limb dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:616339 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO ORPHA:101109 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO ORPHA:420485 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:309510 ORPHA:94083 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:71517 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:363400 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP HPO MIM:619054 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:621 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP HPO ORPHA:621 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870 		JBrowse link
G DDC dopa decarboxylase IAGP HPO MIM:608643 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP HPO MIM:619847 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:619687 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 IAGP HPO MIM:618635 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP HPO MIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HPCA hippocalcin IAGP HPO ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO MIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 ORPHA:210571 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Limb dystonia ClinVar PMID:25741868 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO ORPHA:352649 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO MIM:613135 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TH tyrosine hydroxylase IAGP HPO MIM:605407 ORPHA:101150 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO ORPHA:101150 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G UBE3C ubiquitin protein ligase E3C IAGP HPO MIM:620270 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO MIM:616840 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP HPO ORPHA:319199 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G YIF1B Yip1 interacting factor homolog B, membrane trafficking protein IAGP HPO MIM:619125 NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Lingual dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Oculogyric crisis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO MIM:607371 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Oculogyric crisis ClinVar PMID:15260953 PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G DDC dopa decarboxylase IAGP HPO MIM:608643 ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 IAGP HPO MIM:617384 NCBI chr10:67,796,669...67,838,188
Ensembl chr10:67,796,669...67,838,188 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:330050 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:614254 ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 IAGP HPO ORPHA:1578 NCBI chr10:70,882,280...70,888,565
Ensembl chr10:70,882,280...70,888,565 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase IAGP HPO ORPHA:13 NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO MIM:618049 ORPHA:352649 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO MIM:613135 ORPHA:238455 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SPR sepiapterin reductase IAGP HPO MIM:612716 ORPHA:70594 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G TH tyrosine hydroxylase IAGP HPO ORPHA:101150 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO ORPHA:101150 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
Oromandibular dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO MIM:615034 ORPHA:420485 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G ATN1 atrophin 1 IAGP HPO ORPHA:101 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO MIM:615643 ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO MIM:613135 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Paroxysmal dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP4 calcium binding protein 4 IAGP HPO ORPHA:98784 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit IAGP HPO ORPHA:98784 NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP HPO ORPHA:98784 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit IAGP HPO ORPHA:98784 NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013 		JBrowse link
G CRH corticotropin releasing hormone IAGP HPO ORPHA:98784 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO ORPHA:98784 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO MIM:245348 ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:466722 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:25741868 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO ORPHA:98784 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G LOC129935594 ATAC-STARR-seq lymphoblastoid active region 17117 IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 More... NCBI chr 2:218,270,354...218,270,733 JBrowse link
G PDE2A phosphodiesterase 2A IAGP ClinVar Annotator: match by term: Episodic dystonia ClinVar PMID:25741868 PMID:32467598 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar
HPO		 PMID:8659518 PMID:9490305 PMID:15262732 PMID:15496428 PMID:15824259 More... MIM:118800 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP HPO MIM:619909 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO MIM:128200 MIM:602066 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Paroxysmal dystonia ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:606777 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:608105 ORPHA:163727 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
Retrocollis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:205100 ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620456 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
Torsion dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:41 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G HPCA hippocalcin IAGP HPO MIM:224500 ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98811 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:98811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:314250 ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
Torticollis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:97240 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO MIM:615034 ORPHA:420485 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:606693 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:128235 ORPHA:71517 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:71518 ORPHA:97 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP HPO MIM:618873 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO MIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:45358 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 MIM:254090 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:620727 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 MIM:620728 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO MIM:265050 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP HPO MIM:619054 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G CP ceruloplasmin IAGP HPO MIM:604290 ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G DDC dopa decarboxylase IAGP HPO MIM:608643 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DRD2 dopamine receptor D2 IAGP HPO ORPHA:36899 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO MIM:128230 ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP HPO MIM:618369 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 ORPHA:329466 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:611092 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HPCA hippocalcin IAGP HPO MIM:224500 ORPHA:99657 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO MIM:613204 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO ORPHA:98768 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO MIM:619724 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 ORPHA:36899 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO MIM:611302 ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:45358 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:617284 ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G MYF5 myogenic factor 5 IAGP HPO MIM:618155 NCBI chr12:80,716,912...80,719,671
Ensembl chr12:80,716,912...80,719,671 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO MIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO MIM:620639 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G PHOX2A paired like homeobox 2A IAGP HPO ORPHA:45358 NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO MIM:118800 ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PRDX3 peroxiredoxin 3 IAGP HPO MIM:619862 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO MIM:619680 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO ORPHA:210571 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98810 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO MIM:619686 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G ROBO3 roundabout guidance receptor 3 IAGP HPO MIM:607313 NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471 		JBrowse link
G SCP2 sterol carrier protein 2 IAGP HPO MIM:613724 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G SGCE sarcoglycan epsilon IAGP HPO MIM:159900 ORPHA:36899 NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO MIM:619480 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO MIM:612621 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G TBP TATA-box binding protein IAGP HPO ORPHA:98759 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:614816 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGM6 transglutaminase 6 IAGP HPO MIM:613908 ORPHA:276193 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 ORPHA:98806 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP HPO MIM:620245 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 ORPHA:36899 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:181405 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 MIM:620456 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:45358 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:45358 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 ORPHA:45358 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 ORPHA:98805 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP HPO MIM:607317 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
G ZNF142 zinc finger protein 142 IAGP HPO MIM:618425 NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655 		JBrowse link
Writer's cramp term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:428 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 ORPHA:464440 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DRD2 dopamine receptor D2 IAGP HPO ORPHA:36899 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO MIM:128230 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:428 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:98809 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO MIM:619724 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO ORPHA:36899 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98809 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SGCE sarcoglycan epsilon IAGP HPO MIM:159900 ORPHA:36899 NCBI chr 7:94,584,980...94,656,133
Ensembl chr 7:94,524,204...94,656,572 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:608105 ORPHA:163727 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBP TATA-box binding protein IAGP HPO ORPHA:98759 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 ORPHA:36899 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the nervous system 28559
        Abnormal nervous system physiology 26592
          Abnormality of movement 2874
            Dystonia 746
              Axial dystonia 16
              Focal dystonia + 141
              Generalized dystonia 38
              Hemidystonia 4
              Limb dystonia + 87
              Oculogyric crisis 14
              Paroxysmal dystonia 24
              Torsion dystonia 8
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