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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:basal ganglia disease
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Accession:DOID:679 term browser browse the term
Definition:A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. (DO)
Synonyms:exact_synonym: Basal Ganglia Disorder;   Extrapyramidal Disorder;   Extrapyramidal Disorders;   Lenticulostriate Disorder;   basal ganglia diseases;   basal ganglia disorders;   lenticulostriate disorders
 primary_id: MESH:D001480
 xref: EFO:0009533
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16000684 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19506579 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human) RGD PMID:11438811 RGD:5509839 NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18480698 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7214106 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19387023 NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons:		 CTD
ClinVar
MouseDO
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 CTD
ClinVar
MouseDO		 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819 		JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G C8h3orf84 similar to human chromosome 3 open reading frame 84 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647 		JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953 		JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,693,068...108,737,278 JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,098...109,264,188 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175 		JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921 		JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family, member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705 		JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G C1h11orf24 similar to human chromosome 11 open reading frame 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585 		JBrowse link
G C1h11orf86 similar to human chromosome 11 open reading frame 86 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897 		JBrowse link
G Cdk2ap2 cyclin-dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516 		JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148 		JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660 		JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224 		JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327 		JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548 		JBrowse link
G Ptprcap protein tyrosine phosphatase, receptor type, C-associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608 		JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380 		JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743 		JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609 		JBrowse link
G Tbc1d10c TBC1 domain family, member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,902,564...201,989,945 JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798 		JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676 		JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 4:157,551,276...157,552,924 JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22		 OMIM
CTD
ClinVar		 PMID:25374358 PMID:25741868 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus Fus RNA binding protein ISO
ISS		 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association		 ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:25393002 PMID:25741868 PMID:28492532 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
Basal Ganglia Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:23142649 RGD:329333032 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 More... NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
biotin-responsive basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a3 solute carrier family 19 member 3 ISO
ISS		 ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy
OMIM:607483
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337 		JBrowse link
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
classic dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile		 CTD
ClinVar		 PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898 		JBrowse link
Dystonia Musculorum Deformans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO
ISS		 DNA:mutations:cds
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274		 CTD
ClinVar
MouseDO
RGD		 PMID:16041373 PMID:25741868 PMID:26467025 PMID:28492532 PMID:16041373 More... RGD:5688398, RGD:5688716, RGD:5688721 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 PMID:35873773 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 More... NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229 		JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
DNA:missense mutation:signal peptide:p.A9D(human)
DNA:deletion: :g.102delC(humN)
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia		 CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 More... RGD:5509588, RGD:5509589, RGD:5509602, RGD:5509609, RGD:5509612 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar
RGD		 PMID:17639429 RGD:5508418 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
DNA:haplotype
DNA:mutation:splice junction: IVS10+16C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia		 CTD
ClinVar
OMIM
RGD		 PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More... RGD:1302531, RGD:8158108, RGD:10412699, RGD:10412702 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia		 OMIM
CTD
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580 		JBrowse link
G Tardbp TAR DNA binding protein ISS
ISO		 OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia		 MouseDO
ClinVar		 PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:119,267,194...119,277,094
Ensembl chr 1:119,264,576...119,277,099 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS
ISO		 OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia		 MouseDO
ClinVar		 PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Vcp valosin-containing protein ISS OMIM:600274 MouseDO NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 PMID:31836585 More... NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Spata31d1c spermatogenesis associated 31 subfamily D, member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:159,402...164,239
Ensembl chr17:159,398...164,270 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar		 PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar		 PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More... NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
Gilles de la Tourette syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO DNA:snps, haplotype:multiple (human) RGD PMID:15303240 RGD:11576298 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar PMID:25590979 PMID:25741868 PMID:30257206 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
G Drd2 dopamine receptor D2 treatment IEP mRNA:increased expression:striatum (rat) RGD PMID:19467315 PMID:22876458 RGD:2311576, RGD:6907444 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd4 dopamine receptor D4 susceptibility
no_association		 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:25258183 PMID:8725747 RGD:13209010, RGD:13210516 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hdc histidine decarboxylase susceptibility ISO
ISS		 ClinVar Annotator: match by term: Tourette syndrome
OMIM:137580
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:20445167 PMID:24411733 PMID:25741868 PMID:25741909 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO
ISS		 OMIM:137580
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tourette syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20301778 More... NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078 		JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620 		JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
G Grn granulin precursor ISO
ISS		 ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
OMIM:607485
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483 		JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396 		JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765 		JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779 		JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969 		JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP
ISO		 RGD PMID:152600 PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:17885687 PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:		 RGD PMID:12095160 PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:21651979 PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA		 RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Cntf ciliary neurotrophic factor treatment IDA
ISO		 human gene in a cynomolgus monkey model RGD PMID:12040055 PMID:9121555 RGD:628474, RGD:734795 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO
IEP		 protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crebbp CREB binding protein treatment
disease_progression		 ISO protein:altered localization:nucleus RGD PMID:19291221 PMID:20448484 PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:25568121 PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376 		JBrowse link
G Drd1 dopamine receptor D1 IEP
ISO		 protein:decreased expression:cerebral cortex (mouse) RGD PMID:18815258 PMID:16905556 PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881 		JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:16405510 PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)		 RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)		 RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment
disease_progression		 ISO RGD PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association		 ISO DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple		 RGD PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 More... RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:128,923,918...128,961,926
Ensembl chr 7:128,923,920...128,962,072 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO human gene in a mouse model
protein:decreased expression:liver (mouse)		 RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Htt huntingtin onset
treatment		 ISO
ISS
IMP		 ClinVar Annotator: match by term: Huntington disease
OMIM:143100
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG (human)
mRNA:altered expression:cortex, striatum:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812 		JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443 PMID:15371744 PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO
IEP		 protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)		 RGD PMID:21145001 PMID:9761455 PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment		 ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)		 RGD PMID:19646509 PMID:18327563 PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Meg3 maternally expressed 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Npy neuropeptide Y onset
no_association		 ISO
IEP		 DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)		 RGD PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Nrf1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)		 RGD PMID:20529956 PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725 		JBrowse link
G Pde9a phosphodiesterase 9A treatment IMP RGD PMID:25315303 RGD:243048432 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
severity
no_association
treatment		 ISO
IEP
IDA		 DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 More... RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775 		JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus		 RGD PMID:20089533 PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus		 RGD PMID:21768291 PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Sirt1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex		 RGD PMID:22179316 PMID:9949199 PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409 		JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799 		JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927 		JBrowse link
G Ucp1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979 PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:46,369,963...46,433,691
Ensembl chr 7:46,369,988...46,433,764 		JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES		 CTD
ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1		 CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 More... NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5		 OMIM
CTD
ClinVar		 PMID:21409505 PMID:23913003 PMID:25741868 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification		 OMIM
CTD
ClinVar		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063 		JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,579,327...164,584,650 JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2		 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23455423 RGD:10395280 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia		 CTD
ClinVar
MouseDO		 PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
infantile parkinsonism-dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26497564 PMID:26539891 PMID:28492532 More... NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:29758562 PMID:29770430 PMID:31428396 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
juvenile-onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
Kufor-Rakeb syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO
ISS		 ClinVar Annotator: match by term: Kufor-Rakeb syndrome
OMIM:606693
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
OMIM
ClinVar		 PMID:25741868 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Atxn2 ataxin 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Atxn3 ataxin 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to		 OMIM
CTD
ClinVar		 PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar
OMIM		 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:8104867 PMID:15972314 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar		 PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 PMID:28492532 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30632081 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar		 PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929 		JBrowse link
G Tbp TATA box binding protein ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Lewy body dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation:cds:multiple (human)		 ClinVar
OMIM
CTD
RGD		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... RGD:5508424, RGD:12791014 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia
protein:decreased expression:cerebral spinal fluid:
CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid		 ClinVar
CTD
OMIM
RGD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 More... RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
protein:increased expression:hippocampus		 CTD
ClinVar
OMIM
RGD		 PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid		 RGD PMID:20697047 PMID:10557341 PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
MPTP Poisoning term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29566083 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351185 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26364587 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple system atrophy		 CTD
ClinVar		 PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type ClinVar PMID:25741868 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir96 microRNA 96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516 		JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Multiple System Atrophy (MSA) with Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: COQ2-related condition | ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension | ClinVar Annotator: match by term: Multiple system atrophy 1, susceptibility to OMIM
ClinVar		 PMID:16400613 PMID:17420317 PMID:17855635 PMID:23758206 PMID:24988567 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Olivopontocerebellar Atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy 1 ClinVar PMID:25741868 NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin onset ISO DNA:polymorphism: :p.I1000V (human) GAD
RGD		 PMID:15118671 PMID:12133586 RGD:1331525, RGD:10046014 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20558393 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO
IEP		 protein:increased phosphorylation:striatum:
protein:increased expression:brain:		 RGD PMID:20823226 PMID:24412932 PMID:24412932 RGD:8693409, RGD:8693592, RGD:8693592 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:19474411 RGD:5509846 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr17:61,750,437...62,300,984
Ensembl chr17:61,756,067...62,300,831 		JBrowse link
G Adcy5 adenylate cyclase 5 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182 		JBrowse link
G Afdn afadin, adherens junction formation factor ISO protein:decreased expression: caudate-putamen, substantia nigra RGD PMID:23393160 RGD:13838733 NCBI chr 1:53,905,344...54,034,216
Ensembl chr 1:53,905,373...54,034,216 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:caudate nucleus,putamen,substantia nigra: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 no_association ISO DNA:SNPs:introns:multiple (human)
DNA:SNPs, haplotype:introns:multiple (human)
protein:altered expression:brain		 RGD PMID:21741444 PMID:18395980 PMID:19800394 RGD:5509064, RGD:5509076, RGD:5509074 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24491970 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Ang angiogenin ISO DNA:mutations:multiple RGD PMID:22190368 RGD:6892707 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Anxa5 annexin A5 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:10584677 RGD:10053728 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO RGD PMID:24835407 RGD:13503333 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: altered expression: cerebrospinal fluid: 2 different isoforms RGD PMID:20085559 RGD:5508216 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arpc3 actin related protein 2/3 complex, subunit 3 treatment IDA RGD PMID:20713051 RGD:11049454 NCBI chr12:34,172,780...34,186,651
Ensembl chr12:34,172,780...34,186,651 		JBrowse link
G Atg7 autophagy related 7 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:cingulate gyrus RGD PMID:20502937 RGD:10053605 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23628791 PMID:25149416 PMID:26223426 RGD:10450518 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Axin2 axin 2 ameliorates IMP RGD PMID:31078578 RGD:151356747 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Bdnf brain-derived neurotrophic factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:substantia nigra pars compacta:		 CTD
RGD		 PMID:19276553 PMID:15118671 PMID:16565926 PMID:10208589 RGD:1331525, RGD:10059346, RGD:8657025 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cast calpastatin ISO DNA:SNP:intron: (rs1559085) (human)
protein:decreased expression:substantia nigra, dopaminergic neuron		 RGD PMID:20127884 PMID:10722997 RGD:5509800, RGD:5683320 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930 PMID:10668930 RGD:1626086, RGD:1626086 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159062 PMID:25758665 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human) RGD PMID:3502064 RGD:5508835 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Cripto cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:22426659 RGD:6482307 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.I462V (human)
DNA:polymorphisms (human)		 RGD PMID:11793160 PMID:8872868 PMID:11484167 RGD:5147678, RGD:5147681, RGD:5147679 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14991823 PMID:15174030 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16510128 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dbh dopamine beta-hydroxylase susceptibility ISO protein:increased expression:frontal cortex (human)
DNA:snp:5' utr:g.-1021C>T (human)		 RGD PMID:19276553 PMID:14991826 RGD:5129515, RGD:1358583 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dbn1 drebrin 1 treatment IEP levodopainduced; protein:increased expression:striatum: RGD PMID:23241013 RGD:10398811 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		JBrowse link
G Ddc dopa decarboxylase IEP
ISO
IMP		 protein:altered expression:arcuate nucleus ((rat)
CTD Direct Evidence: therapeutic
human gene in a rat model		 CTD
RGD		 PMID:2969953 PMID:11445284 PMID:15935614 PMID:12703659 PMID:9853519 RGD:5129231, RGD:4139893, RGD:5129121 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25639775 RGD:10450521 NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28215578 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
ISO
IDA		 protein:decreased expression:striatum (rat)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:8558425 PMID:16365282 PMID:23041629 RGD:7248455, RGD:7248595 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 IEP
ISS
ISO		 protein:increased expression:striatum (rat)
CTD Direct Evidence: therapeutic		 MouseDO
CTD
RGD		 PMID:8558425 PMID:18289173 RGD:2311585 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 severity ISO protein:increased expression:blood, lymphocyte
mRNA:decreased expression:blood, lymphocyte		 RGD PMID:10495037 PMID:8618685 RGD:5686418, RGD:5686419 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:blood, lymphocyte RGD PMID:10495037 RGD:5686418 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egf epidermal growth factor disease_progression ISO RGD PMID:21520231 RGD:10059679 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:15567511 RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G En1 engrailed homeobox 1 ISO
ISS		 DNA:SNP:enhancer: (rs1438852) (human) MouseDO
RGD		 PMID:19345444 RGD:5687197 NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association ISO DNA:missense mutation:exon:p.Y113H (human)
DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)		 RGD PMID:10720475 PMID:11692079 RGD:5490167, RGD:5688390 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Ephx2 epoxide hydrolase 2 no_association ISO DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) RGD PMID:11692079 RGD:5688390 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:19727138 RGD:10400901 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Esr2 estrogen receptor 2 onset ISO DNA:polymorphism: :1730A>G(human) RGD PMID:15219649 RGD:5508776 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:neurones of the substantia nigra pars: RGD PMID:11054182 RGD:12903948 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand IEP
ISO		 protein:increased expression:substantia nigra pars compacta, striatum (rat)
protein:decreased expression:neurones of the substantia nigra pars:		 RGD PMID:17959308 PMID:11054182 RGD:2290172, RGD:12903948 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar
RGD		 PMID:26223426 RGD:10450518 NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Fcer2 Fc epsilon receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 IEP RGD PMID:23888906 RGD:13208826 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Gak cyclin G associated kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711177 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398 		JBrowse link
G Gba1 glucosylceramidase beta 1 no_association
onset		 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)
DNA:missense mutation:cds:p.N370S (human)
DNA:missense mutations:cds:p.E326K, p.T369M (human)		 ClinVar
CTD
RGD		 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... RGD:5508422, RGD:12791016, RGD:10450521, RGD:10450518, RGD:5508429, RGD:5508427, RGD:5508425 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO
IEP		 mRNA:increased expression:striatum: RGD PMID:22436046 PMID:24373993 RGD:12738227, RGD:12738228 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:putamen
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:11031079 PMID:16324109 PMID:16644101 RGD:6218968 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gjc2 gap junction protein, gamma 2 treatment IEP RGD PMID:21561882 RGD:13208520 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15824117 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP protein:decreased expression:caudate putamen (rat) RGD PMID:17996024 RGD:5685370 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO
IEP		 DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293
protein: decreased expression: brain		 RGD PMID:21184589 PMID:17996024 PMID:17125886 RGD:5688382, RGD:5685370, RGD:5688384 NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO
IEP		 human gene in rat model
protein: decreased expression: brain		 RGD PMID:22090514 PMID:17996024 RGD:5684916, RGD:5685370 NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Grn granulin precursor no_association ISO protein:decreased expression:serum
DNA:SNP:3' utr:*78C>T (rs5848) (human)		 RGD PMID:23398167 PMID:19473366 RGD:10401642, RGD:10401644 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23094836 RGD:10045553 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:increased expression:striatum (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16510128 PMID:20964710 RGD:5687772 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
onset		 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:cds (human)		 CTD
RGD		 PMID:17449559 PMID:17403576 PMID:10534244 PMID:10720475 RGD:5148019, RGD:7488959, RGD:5490167 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility		 ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706 PMID:17194543 RGD:1358651, RGD:5490299 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 susceptibility
onset		 ISO DNA:polymorphism: : -183 A>G (rs2297235)(human)
DDNA:polymorphism: : -183 A>G (rs2297235)(human)		 RGD PMID:17194543 PMID:14570706 RGD:5490299, RGD:1358651 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:del: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17190945 PMID:23721876 PMID:9802272 RGD:1358669 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:10953187 RGD:5490165 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hbb hemoglobin subunit beta ISO protein:decreased expression:brain, mitochondrion RGD PMID:24333691 RGD:10449046 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:158,271,871...158,273,426
Ensembl chr 1:158,271,873...158,273,425 		JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP mRNA:increased expression:neuron: RGD PMID:19320057 RGD:9693679 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16824219 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16791285 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:18184918 RGD:5508459 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194 PMID:17985251 RGD:5509775, RGD:5509778 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA
IEP		 protein:decreased expression:midbrain (rat) RGD PMID:24852355 PMID:24296154 RGD:10402545, RGD:10402753 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15585408 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:decreased expression:striatum (rat) RGD PMID:22186119 RGD:5686884 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO
IEP		 protein: decreased expression
protein: increased expression: brain		 RGD PMID:20697033 PMID:17241115 PMID:18704197 RGD:6218982, RGD:6480228, RGD:6480203 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 disease_progression ISO DNA:mutation:cds:A>T476(human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain
DNA:mutations:multiple:		 CTD
RGD		 PMID:16565515 PMID:20817635 PMID:16565515 PMID:18219256 PMID:19657588 RGD:6784528, RGD:6784531, RGD:6784530, RGD:6784529 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:23943523 RGD:10402846 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A IMP RGD PMID:20508280 RGD:5683633 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htra2 HtrA serine peptidase 2 no_association ISO DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)
DNA:missense mutation:cds:p.P143A (human)
DNA:missense mutations:cds:p.A141S, p.G399S (human)
DNA:missense mutation:cds:p.R404W (human)
DNA:missense mutation:cds:p.S276C (mouse)		 RGD PMID:15509788 PMID:21338583 PMID:21701785 PMID:18364387 PMID:18401856 More... RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Htt huntingtin ISO RGD PMID:26192120 RGD:13452383 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
ISO		 protein: altered activity
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:brain:		 CTD
RGD		 PMID:19276553 PMID:19703168 PMID:19276553 RGD:5686429, RGD:5129515 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Il1b interleukin 1 beta ISO
IDA		 RGD PMID:12070246 PMID:23159314 RGD:1358742, RGD:7175549 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lep leptin treatment IDA rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 susceptibility
no_association		 ISO DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human)
DNA:mutation: :p.R1441G (human)
DNA:missense mutation:cds:p.R1398H (human)
DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human)
DNA:missense mutation:cds:p.G2019S (human)		 ClinVar
CTD
RGD		 PMID:16172858 PMID:16633828 PMID:17019612 PMID:17388990 PMID:17659642 More... RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17449559 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B IEP
ISO		 protein:increased activity:striatum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21318773 PMID:17417741 PMID:9129714 RGD:2316771, RGD:1358484 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21815648 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mapt microtubule-associated protein tau susceptibility ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs8070723) (human)
DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human)
DNA:SNPs, haplotypes: :multiple		 ClinVar
CTD
RGD		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Minar2 membrane integral NOTCH2 associated receptor 2 ISS MouseDO NCBI chr18:52,539,714...52,554,465
Ensembl chr18:52,539,917...52,554,461 		JBrowse link
G Mir1 microRNA 1 ISO RGD PMID:21295623 RGD:10755488 NCBI chr18:1,887,537...1,887,623 JBrowse link
G Mir106a microRNA 106a ISO RGD PMID:25553963 RGD:10450788 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir132 microRNA 132 ISO RGD PMID:25553963 RGD:10450788 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir155 microRNA 155 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28770951 NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628 		JBrowse link
G Mir19b1 microRNA 19b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr15:92,181,214...92,181,300
Ensembl chr15:92,181,214...92,181,300 		JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir210 microRNA 210 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir22 microRNA 22 ISO RGD PMID:21295623 RGD:10755488 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir29b1 microRNA 29b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067 		JBrowse link
G Mir301a microRNA 301a ISO RGD PMID:22003392 RGD:10755479 NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435 		JBrowse link
G Mir34b microRNA 34b ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:SNP:cds:m.9055A>G (human) RGD PMID:12618962 RGD:5490292 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 no_association ISO DNA:missense mutation:cds:m.4216T>C (human)
mRNA:decreased expression:substantia nigra, neuron		 RGD PMID:11022854 PMID:11506395 PMID:16784756 RGD:5148018, RGD:8657117, RGD:5508706 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:point mutation: :m.5460G>A (human)
DNA:missense mutation::m.5460G>A		 RGD PMID:8723226 PMID:10737123 RGD:2302313, RGD:5507832 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO
IMP		 DNA:polymorphism:exon:m.10398A>G(human)
ClinVar Annotator: match by term: Parkinson disease, resistance to
protein: decreased activity: brain: MPTP model of Parkinson disease
protein: decreased activity: striatum: rotenone model of Parkinson disease 		ClinVar
RGD		 PMID:6343397 PMID:17066297 PMID:15975594 PMID:21291942 PMID:21484267 RGD:5491206, RGD:5687692, RGD:5687691 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:missense mutations: :11253T>C, 12084C>T (human) RGD PMID:10737123 RGD:5507832 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mta1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27044752 NCBI chr 6:132,178,608...132,217,641
Ensembl chr 6:132,178,853...132,217,641 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30726997 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :1049A>G (human) RGD PMID:21070756 RGD:5508183 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Nanog Nanog homeobox treatment ISO mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell RGD PMID:24954161 RGD:9681444 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:9343502 RGD:2303766 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO RGD PMID:26605748 RGD:13504667 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726 		JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:26605748 RGD:13504667 NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 onset ISO protein:increased oxidation:brain, mitochondrion (mouse) RGD PMID:21196577 RGD:6484690 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO RGD PMID:21383081 RGD:6484691 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 susceptibility ISO DNA:polymorphism: :p.A29V RGD PMID:9570948 RGD:2302386 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RNA, protein:increased expression:neutrophil
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26383258 PMID:11020342 PMID:11809160 RGD:5132632, RGD:1358519 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:striatum (mouse) RGD PMID:21970803 RGD:5509573 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nox1 NADPH oxidase 1 ameliorates IMP RGD PMID:23077033 RGD:329961565 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Np4 defensin NP-4 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr16:70,494,607...70,497,261
Ensembl chr16:70,342,529...70,497,202 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17188257 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 susceptibility ISO DNA:deletion:promoter: (human) RGD PMID:18314446 RGD:11073691 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 treatment IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin treatment IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO
ISS		 DNA:insertion:intron:g.7048_7049insG (human)
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive | ClinVar Annotator: match by term: Parkinson's disease
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251		 ClinVar
MouseDO
RGD		 PMID:23066323 PMID:25741868 PMID:28492532 PMID:11914402 RGD:1358553 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Ntsr1 neurotensin receptor 1 ISO RGD PMID:7700529 RGD:9743906 NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:substantia nigra, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Optn optineurin IEP protein:increased expression:substantia nigra (rat) RGD PMID:27473339 RGD:13432580 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Park7 Parkinsonism associated deglycase onset ISO
IMP		 DNA:missense mutation, deletion: :L166P
ClinVar Annotator: match by term: Parkinson Disease, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 More... RGD:1601073, RGD:12880446, RGD:10450523 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 RGD:12880446
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility
no_association		 ISO DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)
DNA:snps:multiple (human)		 RGD PMID:17362997 PMID:21767974 RGD:5510024, RGD:5510021 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:striatum: RGD PMID:11501038 RGD:10003114 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: intron: rs11155313 RGD PMID:19429005 RGD:6483095 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP		 ClinVar Annotator: match by term: Parkinson Disease, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17010972 PMID:21366594 PMID:22043175 PMID:24374061 PMID:25149416 More... RGD:10450518, RGD:11560775, RGD:12880446, RGD:10450521 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 PMID:25421206 RGD:12880446, RGD:11560775
G Pitx3 paired-like homeodomain 3 model ISO
ISS		 OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO
RGD		 PMID:18573342 RGD:11535079 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Pla2g6 phospholipase A2 group VI onset
no_association		 ISO DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)
DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)		 RGD PMID:20938027 PMID:21368765 RGD:6482733, RGD:6482734 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit onset ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human)
DNA:missense mutations:exons:p.R853W,p.G737R(human)		 RGD PMID:15351195 PMID:23865558 PMID:16634032 RGD:8694175, RGD:8694203, RGD:8694201 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset ISO
ISS		 DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:30236862 PMID:21595954 PMID:21376232 RGD:6484270, RGD:6484271 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B IEP protein:altered localization:striate nucleus (rat) RGD PMID:18372251 RGD:10043801 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO protein:decreased tyrosine phosphorylation:brain (human) RGD PMID:24395787 RGD:8693390 NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO
IDA		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
protein:increased tyrosine-phosphorylation:substantia nigra, striatum,
DNA:deletions:exons: (human)		 CTD
RGD		 PMID:12588799 PMID:15198987 PMID:15882845 PMID:16573651 PMID:17010972 More... RGD:737763, RGD:13432567, RGD:13432563, RGD:13432207, RGD:10450521, RGD:10450518, RGD:8693409, RGD:10413859, RGD:9693725 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment ISO human gene in a rat model RGD PMID:23691265 RGD:401959749 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Ptn pleiotrophin treatment IDA RGD PMID:19615368 RGD:10044022 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456 		JBrowse link
G Rpl14 ribosomal protein L14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064 		JBrowse link
G Rpl23a ribosomal protein L23A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr10:63,076,660...63,079,346
Ensembl chr10:63,076,066...63,079,346 		JBrowse link
G Rpl6 ribosomal protein L6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G Rps8 ribosomal protein S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268 		JBrowse link
G Rrn3 RRN3 homolog, RNA polymerase I transcription factor ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:2,129,949...2,165,381
Ensembl chr10:2,129,978...2,165,663 		JBrowse link
G RT1-Da RT1 class II, locus Da onset ISO DNA:SNP:intron: (rs3129882) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711177 PMID:20711177 RGD:5490158 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism: :HLA-DRB1*03 (human) RGD PMID:20462916 RGD:5147576 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21725169 PMID:21402140 RGD:5508763, RGD:5508766 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO protein:decreased expression:substantia nigra, neuron RGD PMID:26605748 RGD:13504667 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Septin14 septin 14 susceptibility ISO DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) RGD PMID:27115672 RGD:13504669 NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO protein:increased expression:serum, extracellular exosome (human) RGD PMID:31593110 RGD:27226691 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO DNA:polymorphism:cds:1254T>C(human) RGD PMID:21777657 PMID:19011085 RGD:5688403, RGD:5688713 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 resistance IEP
ISO
IMP		 mRNA:decreased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
protein:decreased expression:putamen, caudate nucleus, striatum (human)		 CTD
RGD		 PMID:16112329 PMID:34774656 PMID:21291984 PMID:16339215 PMID:11463816 More... RGD:5131086, RGD:5131165, RGD:5131163, RGD:5131167, RGD:5129143 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25149416 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc38a2 solute carrier family 38, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:35728354 NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Snca synuclein alpha ISO
IDA		 human gene in a mouse model
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral spinal fluid:
DNA:missense mutation:cds:p.S129A(human)
DNA:mutation:cds:G209A(human)
DNA:mutation:cds:p.A30P(human)
protein:increased expression:astrocyte, oligodendroglial cell		 ClinVar
CTD
RGD		 PMID:11535288 PMID:12151787 PMID:12732244 PMID:12885775 PMID:14535945 More... RGD:1302527, RGD:13506723, RGD:13506646, RGD:10450521, RGD:10450518, RGD:10450517, RGD:6480197, RGD:6480196, RGD:6480094, RGD:6478794, RGD:730239 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive ClinVar PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929 		JBrowse link
G Sncb synuclein, beta onset ISO DNA:SNP: :rs1352303(human)
protein:increased expression:hippocampus		 RGD PMID:17556099 PMID:10557341 RGD:6478793, RGD:6480095 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus RGD PMID:10557341 RGD:6480095 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:15824117 PMID:16353238 PMID:21318773 PMID:16353238 RGD:8655933 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17188257 PMID:18353766 PMID:25279756 PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spr sepiapterin reductase ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) RGD PMID:20161708 RGD:11038728 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25639775 RGD:10450521 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Taldo1 transaldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:mutation:cds:p.A382T (human) RGD PMID:21667065 PMID:20551689 RGD:5687172, RGD:5687183 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tcn2 transcobalamin 2 ISO RGD PMID:20027219 RGD:11060125 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility
no_association		 ISO
ISS		 DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human)
DNA:missense mutation:exon:p.S12T (rs1937) (human)		 MouseDO
RGD		 PMID:19925850 PMID:17537576 PMID:18248889 RGD:14389730, RGD:6771185, RGD:6771184 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Th tyrosine hydroxylase IMP
ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (human)
protein:decreased expression:midbrain, neuron (rat)
protein:decreased expression:substantia nigra (mouse)
human gene in a rat model		 CTD
RGD		 PMID:30236862 PMID:2573072 PMID:15857400 PMID:21376343 PMID:21323909 More... RGD:5129120, RGD:2289955, RGD:5128607, RGD:5128616, RGD:5129121 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem230 transmembrane protein 230 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270108 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) RGD PMID:19780901 RGD:5130931 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868 NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27957685 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640 		JBrowse link
G Vdr vitamin D receptor onset ISO DNA:polymorphisms: :rs4334089, rs2853559(human) RGD PMID:21309754 RGD:13217419 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19476518 RGD:5685606 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26942284 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
ISS		 ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:25149416 PMID:25741868 PMID:26223426 PMID:25701813 PMID:25639775 RGD:10450518, RGD:10450845, RGD:10450521 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Parkinson's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474 		JBrowse link
G Snca synuclein alpha ISO
ISS		 OMIM:168601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1		 OMIM
MouseDO
CTD
ClinVar		 PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Parkinson's Disease 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18358451 PMID:18923002 PMID:19133664 PMID:19250854 PMID:19279319 More... NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715 		JBrowse link
Parkinson's Disease 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:18401856 PMID:18790661 NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to		 OMIM
CTD
ClinVar		 PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 More... NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM:612953
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
Parkinson's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
ISS		 ClinVar Annotator: match by term: Parkinson disease 17
OMIM:614203
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Parkinson's disease 19A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset		 OMIM
CTD
ClinVar		 PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 More... NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448 		JBrowse link
Parkinson's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 More... NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 ClinVar PMID:26864383 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM:600116		 OMIM
ClinVar
MouseDO		 PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
Parkinson's disease 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 More... NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
Parkinson's disease 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease 21 ClinVar PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
Parkinson's disease 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
Parkinson's disease 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Parkinson's disease 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM
ClinVar		 PMID:36073231 NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549 		JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4		 OMIM
CTD
ClinVar		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Parkinson's Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
Parkinson's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399 		JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601 		JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274 		JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
OMIM:605909
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716 		JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744 		JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719 		JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859 		JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415 		JBrowse link
Parkinson's disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7
OMIM:606324
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1818649 PMID:9536098 PMID:12446870 PMID:12891675 PMID:12891685 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
Parkinson's disease 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... RGD:5508405 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
Parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IEP RGD PMID:22634324 RGD:9588554 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 IEP RGD PMID:15857625 RGD:1598645 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 IEP RGD PMID:15857625 RGD:1598645 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 IDA RGD PMID:16888218 RGD:2325295 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773 		JBrowse link
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045800 NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045800 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Ang angiogenin ISO RGD PMID:21091473 RGD:6892711 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:11535810 RGD:13503334 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:21255222 RGD:5148006 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23046578 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15260953 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Bad BCL2-associated agonist of cell death IDA RGD PMID:23251488 RGD:10053712 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO RGD PMID:16018990 RGD:8657066 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 treatment ISO
IEP		 RGD PMID:19864570 PMID:25424835 RGD:6483312, RGD:11558014 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp3 caspase 3 treatment IDA
IEP
ISO		 RGD PMID:28881616 PMID:27016191 PMID:28338241 RGD:13503337, RGD:13503339, RGD:13503338 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:26612350 RGD:13503344 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:17258864 RGD:5683893 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19414037 RGD:2314672 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Comt catechol-O-methyltransferase IMP RGD PMID:15698633 RGD:2289785 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:25741868 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf2 colony stimulating factor 2 IDA RGD PMID:21291297 RGD:5131508 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19368990 RGD:4891964 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IMP RGD PMID:19368990 RGD:4891964 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA:decreased expression:striatum RGD PMID:18374908 RGD:5147675 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonian disorder		 CTD
ClinVar		 PMID:19136952 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29525180 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Ddc dopa decarboxylase ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Drd2 dopamine receptor D2 IDA
ISO		 CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770 RGD:6907448 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 IMP RGD PMID:12535962 RGD:1358605 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased expression:striatum RGD PMID:15857400 RGD:2289955 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G En1 engrailed homeobox 1 ISO RGD PMID:17015829 RGD:5687199 NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943 		JBrowse link
G En2 engrailed homeobox 2 ISO RGD PMID:17015829 RGD:5687199 NCBI chr 4:7,221,096...7,226,943
Ensembl chr 4:7,221,096...7,226,943 		JBrowse link
G Eno2 enolase 2 IEP RGD PMID:17532790 RGD:2293747 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Esr1 estrogen receptor 1 IDA RGD PMID:21420980 RGD:8553241 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:27228974 RGD:13801017 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A IEP mRNA, protein:increased expression:brain RGD PMID:17877381 RGD:2302074 NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29886133 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gba1 glucosylceramidase beta 1 severity ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 More... RGD:5508426 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment IMP
ISO		 RGD PMID:25592335 PMID:15684695 PMID:12451130 PMID:16708545 PMID:23831692 RGD:329970292, RGD:1580026, RGD:628489, RGD:401700385, RGD:401700381 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IEP
ISO
IDA		 protein:decreased expression:brain
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:9266731 PMID:12213621 PMID:22186119 PMID:16018990 PMID:21865882 RGD:5686884, RGD:8657066, RGD:6218962 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 IMP
IEP		 mRNA:altered expression:brain RGD PMID:21865882 PMID:12210101 RGD:6218962, RGD:6218972 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Gfra2 GDNF family receptor alpha 2 IEP mRNA:decreased expression:brain RGD PMID:12210101 RGD:6218972 NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714 		JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IDA RGD PMID:23783886 RGD:8662444 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gnal G protein subunit alpha L ISO RGD PMID:22539851 RGD:13513924 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 IDA RGD PMID:22546615 RGD:6771180 NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha IEP protein:decreased expression:striatum RGD PMID:18805403 RGD:10401814 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:22721943 PMID:20951685 RGD:5128840 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24169105 RGD:10755712 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO RGD PMID:15585408 RGD:5147599 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 IEP protein:decreased expression:striatum RGD PMID:21542017 RGD:6784518 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26558463 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Il1b interleukin 1 beta IMP protein:increased expression:hypothalamus RGD PMID:17520785 RGD:1626658 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 IEP mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 IEP mRNA, protein:increased expression:striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23046578 PMID:25017139 PMID:26558463 PMID:20729864 RGD:5508414 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase IEP RGD PMID:16529858 RGD:1581410 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868 		JBrowse link
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO RGD PMID:19641128 RGD:2325813 NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment IDA RGD PMID:20581854 RGD:401965387 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mapt microtubule-associated protein tau treatment ISO
IDA		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonian disorder		 CTD
ClinVar
RGD		 PMID:10802785 PMID:19458322 PMID:27228974 RGD:13801017 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:22498097 RGD:8693688 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:15075439 RGD:13204850 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I IEP mRNA:decreased expression:thalamus RGD PMID:17148469 RGD:2302296 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:20089925 RGD:10040992 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEP RGD PMID:20403401 RGD:13824972 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IMP RGD PMID:18534259 RGD:2302392 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Ngf nerve growth factor treatment ISO
IEP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:19694610 PMID:20581854 RGD:401965387 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:20581854 RGD:401965387 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:23967645 RGD:7257596 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 treatment IEP RGD PMID:31408200 RGD:124713575 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 treatment IDA RGD PMID:20581854 RGD:401965387 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Juvenile parkinsonism ClinVar PMID:25741868 NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase treatment ISO
IEP
IMP
IDA		 protein:decreased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23046578 PMID:26558463 PMID:16860563 PMID:22710069 PMID:18373560 More... RGD:1601076, RGD:13463458, RGD:13463452, RGD:13210569, RGD:13462067 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17640816 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pde1b phosphodiesterase 1B IEP RGD PMID:15305867 RGD:2312524 NCBI chr 7:134,627,378...134,654,581
Ensembl chr 7:134,627,322...134,654,580 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:25741868 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pdyn prodynorphin disease_progression ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:striatum		 CTD
RGD		 PMID:9930741 PMID:26113400 RGD:401851054 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 More... RGD:13210569 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pnoc prepronociceptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26687234 NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:22246294 PMID:21376232 PMID:22040668 RGD:6484262, RGD:6484271, RGD:6484267 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:15681813 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Juvenile parkinsonism		 CTD
ClinVar		 PMID:10072423 PMID:10824074 PMID:10894217 PMID:11179010 PMID:11254447 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18243799 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:240179 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IDA		 mRNA, protein:increased expression:neostriatum RGD PMID:21376018 PMID:16781689 PMID:15306248 RGD:5508224, RGD:5688269, RGD:5688225 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:27134041 PMID:27753167 PMID:29143421 NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805 		JBrowse link
G Ranbp2 RAN binding protein 2 severity ISO RGD PMID:22821000 RGD:9835348 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IMP RGD PMID:18534259 RGD:2302392 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ret ret proto-oncogene IEP mRNA:altered expression:brain RGD PMID:12210101 RGD:6218972 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Rgs4 regulator of G-protein signaling 4 treatment ISO RGD PMID:25844489 RGD:13524517 NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 treatment IEP
ISO		 protein:decreased expression:striatum RGD PMID:20561938 PMID:18160641 PMID:21963945 RGD:13524532, RGD:13524864, RGD:13524862 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment IMP RGD PMID:25030123 RGD:12859032 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO
IDA
IMP		 RGD PMID:19011085 PMID:20125122 PMID:19011085 RGD:5688713, RGD:5688715, RGD:5688713 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 IEP protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon RGD PMID:17435391 RGD:9999153 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220508 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 IEP protein:decreased expression:striatum RGD PMID:15680936 RGD:1625663 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP RGD PMID:20447560 RGD:4889474 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Snca synuclein alpha ISO mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20464527 PMID:22319455 PMID:23046578 PMID:23295396 PMID:26075822 More... RGD:6478799, RGD:6478802 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:15147505 RGD:6478802 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase IDA RGD PMID:16529858 RGD:1581410 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:3402014 PMID:25401298 PMID:25741868 PMID:27541164 PMID:28492532 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:increased expression:striatum RGD PMID:22040668 RGD:6484267 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Th tyrosine hydroxylase susceptibility
treatment		 ISO
IEP		 Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L
protein:decreased expression:striatum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8817341 PMID:11246459 PMID:7814018 PMID:23831692 PMID:20561938 RGD:1601634, RGD:401700381, RGD:13524532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21831964 PMID:28338241 RGD:7247422, RGD:13503338 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:21831964 RGD:7247422 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Ucn urocortin IDA RGD PMID:21362449 RGD:5508188 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IDA RGD PMID:20302395 RGD:2325190 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Vip vasoactive intestinal peptide IMP RGD PMID:15808913 RGD:5685601 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
PARKINSONISM WITH POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Parkinsonism with polyneuropathy OMIM
ClinVar		 PMID:25741868 PMID:33141179 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset | ClinVar Annotator: match by term: WARS2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
Perry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 susceptibility ISO ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... RGD:5534575, RGD:5535748 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
Pick's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 ISO RGD PMID:16496165 RGD:10047401 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased expression:frontal cortex RGD PMID:16496165 PMID:17548164 RGD:10047401, RGD:10047402 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease		 CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
primary progressive aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
progressive non-fluent aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau onset ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes::		 OMIM
ClinVar
CTD
RGD		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158095, RGD:8158100, RGD:8158099 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tra2b transformer 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249 		JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical		 CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
secondary Parkinson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285144 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30410011 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27317300 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:19909981 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25634431 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993444 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Rgs2 regulator of G-protein signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347610 NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: therapeutic CTD PMID:11771942 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34774656 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34332006 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:28595911 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
Shy-Drager Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6850280 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:25548529 PMID:25594503 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Tbp TATA box binding protein ISO
ISS		 OMIM:607136
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
OMIM:183090		 ClinVar
OMIM
MouseDO		 PMID:25741868 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vac14 VAC14 component of PIKFYVE complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27292112 PMID:28492532 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
Striatonigral Degeneration, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4i1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Nup62 nucleoporin 62 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile		 OMIM
CTD
ClinVar		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174 		JBrowse link
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial ClinVar PMID:7668837 PMID:8554662 PMID:9270604 PMID:9501263 PMID:9631394 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS		 OMIM:304340
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO
ISS		 ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion
OMIM:128100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Torsion dystonia 2		 OMIM
CTD
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
torsion dystonia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580
Ensembl chr16:69,402,989...69,406,580 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245 		JBrowse link
G Thap1 THAP domain containing 1 ISO
ISS		 ClinVar Annotator: match by term: Torsion dystonia 6
OMIM:602629
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471 		JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome ClinVar PMID:25434005 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30655162 More... NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601 		JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 7:24,313,339...25,479,307
Ensembl chr 7:24,312,843...25,477,693 		JBrowse link
G Anxa5 annexin A5 IEP
ISO		 protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21751376 PMID:21751376 RGD:10053726 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr12:16,304,719...16,309,568
Ensembl chr12:16,304,719...16,309,568 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atp7b ATPase copper transporting beta treatment IAGP
ISO
ISS
IDA		 DNA:deletion:exon
ClinVar Annotator: match by term: Wilson disease
OMIM:277900
ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease
compared to LEA/Hok
DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:626829 PMID:671269 PMID:893844 PMID:1000228 PMID:2333878 More... RGD:2292672, RGD:25823141, RGD:25823154, RGD:35316074, RGD:631728, RGD:25671604, RGD:1554300, RGD:21410182, RGD:734622 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:7951327 PMID:1561010 PMID:24358170 PMID:30733544 PMID:17303181 RGD:631728, RGD:25823154, RGD:35316074, RGD:25823141, RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339 		JBrowse link
G Commd1 copper metabolism domain containing 1 ISO Copper toxicosis, COMMD1-related OMIA PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 More... NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501 		JBrowse link
G Cp ceruloplasmin treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 CTD
RGD		 PMID:7849148 PMID:22243965 PMID:23519153 PMID:15511628 PMID:18556333 RGD:1554300, RGD:14401715 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:3348368 RGD:2307322 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IDA RGD PMID:17303181 RGD:2292672 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067 		JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity IDA RGD PMID:17259995 RGD:1601345 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304 		JBrowse link
Woodhouse-Sakati syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 More... NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676 		JBrowse link
X-linked parkinsonism-spasticity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            basal ganglia disease 1123
              Alopecia, Hypogonadism, Extrapyramidal Disorder 1
              Dystonia Musculorum Deformans + 21
              Gilles de la Tourette syndrome + 12
              Huntington's disease + 203
              Meige syndrome 0
              Neuhauser Eichner Opitz Syndrome 0
              Parkinsonism + 452
              Progressive Pallidal Degeneration with Retinitis Pigmentosa 0
              Spastic Paraplegia with Associated Extrapyramidal Signs 0
              Waisman syndrome 1
              Wilson disease + 52
              Woodhouse-Sakati syndrome 2
              basal ganglia calcification + 290
              basal ganglia cerebrovascular disease + 1
              biotin-responsive basal ganglia disease 1
              childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
              chorea gravidarum 0
              frontotemporal dementia + 169
              multiple system atrophy + 41
              neuroleptic malignant syndrome 0
              pantothenate kinase-associated neurodegeneration 60
              progressive supranuclear palsy + 11
              syndromic X-linked intellectual disability 5 2
paths to the root