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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.

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basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19506579 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Ftl ferritin light chain ISO DNA:insertion:exon:460_461insA(human) RGD PMID:11438811 RGD:5509839 NCBI chrNW_004955559:1,691,722...1,693,381 JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18480698 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345 		JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chrNW_004955437:19,021,012...19,250,831
Ensembl chrNW_004955437:19,020,652...19,253,789 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chrNW_004955425:23,512,865...23,614,326
Ensembl chrNW_004955425:23,512,151...23,635,697 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7214106 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19387023 NCBI chrNW_004955453:6,935,372...6,957,808
Ensembl chrNW_004955453:6,935,371...6,958,103 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chrNW_004955406:19,831,398...19,980,994
Ensembl chrNW_004955406:19,797,245...19,974,911 		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 ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		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 chrNW_004955532:516,772...533,774
Ensembl chrNW_004955532:516,753...533,498 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036 		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 chrNW_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		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 chrNW_004955422:19,556,129...19,557,416
Ensembl chrNW_004955422:19,556,396...19,557,307 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chrNW_004955422:24,781,476...24,795,112
Ensembl chrNW_004955422:24,781,806...24,793,625 		JBrowse link
G Trex1 three prime repair exonuclease 1 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 chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091 		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 chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,580,473...1,590,274
Ensembl chrNW_004955532:1,580,553...1,590,138 		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 chrNW_004955532:933,749...1,008,619
Ensembl chrNW_004955532:933,749...1,008,619 		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 chrNW_004955532:516,772...533,774
Ensembl chrNW_004955532:516,753...533,498 		JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,527,336...1,578,394
Ensembl chrNW_004955532:1,527,477...1,570,670 		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 chrNW_004955532:1,747,359...1,762,978
Ensembl chrNW_004955532:1,747,359...1,760,110 		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 chrNW_004955532:1,150,053...1,153,965
Ensembl chrNW_004955532:1,150,321...1,154,112 		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 chrNW_004955532:1,644,995...1,690,897
Ensembl chrNW_004955532:1,683,570...1,690,834 		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 chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173 		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 chrNW_004955532:650,913...681,186 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,243,732...1,245,499 JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,163,399...1,172,197
Ensembl chrNW_004955532:1,163,353...1,198,237 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		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 chrNW_004955532:1,038,861...1,042,362
Ensembl chrNW_004955532:1,038,970...1,041,984 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		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 chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957 		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 chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:2,107,019...2,112,356
Ensembl chrNW_004955532:2,106,565...2,108,892 		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 chrNW_004955532:2,101,202...2,106,779
Ensembl chrNW_004955532:2,101,202...2,104,104 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,198,316...1,226,875 JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,047,138...1,051,980
Ensembl chrNW_004955532:1,045,833...1,051,978 		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 chrNW_004955532:1,695,956...1,697,521
Ensembl chrNW_004955532:1,695,956...1,697,485 		JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,625,298...1,644,973
Ensembl chrNW_004955532:1,625,298...1,644,973 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,158,888...1,162,710
Ensembl chrNW_004955532:1,158,162...1,163,305 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554 		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 chrNW_004955532:2,096,231...2,101,541
Ensembl chrNW_004955532:2,096,770...2,100,876 		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 chrNW_004955532:1,793,233...1,811,675
Ensembl chrNW_004955532:1,790,929...1,812,125 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,590,685...1,595,655
Ensembl chrNW_004955532:1,590,755...1,595,148 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990 		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 chrNW_004955532:2,109,595...2,112,013
Ensembl chrNW_004955532:2,110,133...2,110,744 		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 chrNW_004955532:755,997...766,202
Ensembl chrNW_004955532:755,997...764,855 		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 chrNW_004955532:1,045,854...1,046,738
Ensembl chrNW_004955532:1,045,852...1,046,594 		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 chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,015,259...1,029,749
Ensembl chrNW_004955532:1,015,259...1,029,749 		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 chrNW_004955532:606,597...644,238
Ensembl chrNW_004955532:606,643...644,027 		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 chrNW_004955532:827,112...896,487
Ensembl chrNW_004955532:827,418...852,845 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,052,174...1,092,211
Ensembl chrNW_004955532:1,052,174...1,091,449 		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 chrNW_004955532:1,929,540...1,957,297
Ensembl chrNW_004955532:1,929,043...1,956,812 		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 chrNW_004955532:1,811,794...1,914,551
Ensembl chrNW_004955532:1,811,794...1,916,328 		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 chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,595,970...1,622,633
Ensembl chrNW_004955532:1,596,080...1,625,672 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:2,083,457...2,093,327
Ensembl chrNW_004955532:2,085,319...2,093,499 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,992,417...2,015,879
Ensembl chrNW_004955532:1,988,486...2,017,170 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:535,992...544,542 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 chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174 		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 chrNW_004955532:713,725...723,190
Ensembl chrNW_004955532:713,215...722,817 		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 chrNW_004955532:2,023,694...2,046,556
Ensembl chrNW_004955532:2,023,694...2,050,708 		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 chrNW_004955532:1,347,639...1,349,864
Ensembl chrNW_004955532:1,347,639...1,349,864 		JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,725,608...1,746,690
Ensembl chrNW_004955532:1,726,061...1,746,591 		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 chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767 		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 chrNW_004955532:1,697,667...1,706,668
Ensembl chrNW_004955532:1,695,956...1,706,676 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:648,845...650,020 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,104,212...1,115,267
Ensembl chrNW_004955532:1,104,591...1,113,567 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,247,110...1,284,564
Ensembl chrNW_004955532:1,247,110...1,285,121 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004955532:1,029,857...1,039,020
Ensembl chrNW_004955532:1,028,466...1,039,020 		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 chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		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 chrNW_004955422:18,799,372...18,812,458
Ensembl chrNW_004955422:18,799,372...18,812,711 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,852,295...17,856,946
Ensembl chrNW_004955422:17,852,329...17,859,781 		JBrowse link
G Aip aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,997,683...18,003,888
Ensembl chrNW_004955422:17,997,683...18,004,201 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,786,495...17,801,014
Ensembl chrNW_004955422:17,785,288...17,798,319 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,159,337...18,170,480
Ensembl chrNW_004955422:18,159,337...18,170,480 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,064,526...16,213,614
Ensembl chrNW_004955422:16,064,475...16,214,360 		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 chrNW_004955422:19,544,255...19,547,212
Ensembl chrNW_004955422:19,544,344...19,547,429 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,337,038...19,338,824
Ensembl chrNW_004955422:19,337,038...19,338,824 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,825,756...18,843,820
Ensembl chrNW_004955422:18,825,756...18,844,036 		JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,981,984...18,989,730
Ensembl chrNW_004955422:18,982,082...18,989,730 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,967,313...17,972,468
Ensembl chrNW_004955422:17,967,313...17,972,468 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:20,006,448...20,026,984
Ensembl chrNW_004955422:20,004,426...20,025,708 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,051,721...18,061,500
Ensembl chrNW_004955422:18,051,721...18,061,487 		JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,315,640...19,322,868 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,432,368...19,433,386
Ensembl chrNW_004955422:19,432,602...19,433,210 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,772,869...18,775,548 JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,761,703...18,772,762
Ensembl chrNW_004955422:18,758,580...18,772,757 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,006,618...19,009,532
Ensembl chrNW_004955422:19,006,653...19,009,322 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,922,179...19,928,570
Ensembl chrNW_004955422:19,922,179...19,928,570 		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 chrNW_004955422:17,981,267...17,983,480
Ensembl chrNW_004955422:17,981,267...17,984,517 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,710,981...17,766,256
Ensembl chrNW_004955422:17,710,434...17,766,256 		JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,097,779...18,108,628
Ensembl chrNW_004955422:18,097,779...18,108,628 		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 chrNW_004955422:19,033,201...19,035,135
Ensembl chrNW_004955422:19,033,201...19,035,138 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,035,629...18,041,009
Ensembl chrNW_004955422:18,034,873...18,041,483 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,326,302...19,327,449
Ensembl chrNW_004955422:19,313,352...19,327,360 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,794,207...18,799,245
Ensembl chrNW_004955422:18,793,367...18,802,535 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,439,997...19,443,451
Ensembl chrNW_004955422:19,440,394...19,443,412 		JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,563,188...17,573,079
Ensembl chrNW_004955422:17,567,268...17,574,503 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,894,502...19,910,989
Ensembl chrNW_004955422:19,892,189...19,910,989 		JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,844,391...18,865,050
Ensembl chrNW_004955422:18,844,138...18,865,050 		JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,406,106...19,408,232
Ensembl chrNW_004955422:19,406,106...19,408,232 		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 chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605 		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 chrNW_004955422:19,670,778...19,689,008 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 chrNW_004955422:19,339,111...19,343,673
Ensembl chrNW_004955422:19,339,111...19,345,109 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281 		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 chrNW_004955422:19,690,806...19,693,575
Ensembl chrNW_004955422:19,691,352...19,692,377 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,415,880...16,419,528
Ensembl chrNW_004955422:16,415,648...16,420,515 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,333,363...16,339,853
Ensembl chrNW_004955422:16,333,363...16,339,853 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,362,418...16,364,126 JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095 		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 chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,830,211...19,848,653
Ensembl chrNW_004955422:19,828,177...19,848,758 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,202,770...17,207,948
Ensembl chrNW_004955422:17,202,946...17,207,948 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,259,551...19,267,600
Ensembl chrNW_004955422:19,263,468...19,267,029 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,029,704...18,034,051
Ensembl chrNW_004955422:18,029,884...18,031,610 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650 		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 chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036 		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 chrNW_004955422:19,666,974...19,670,449
Ensembl chrNW_004955422:19,666,974...19,670,449 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,201,243...18,308,163
Ensembl chrNW_004955422:18,200,758...18,308,163 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,047,942...19,057,153
Ensembl chrNW_004955422:19,047,942...19,057,547 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,626,606...17,684,890
Ensembl chrNW_004955422:17,647,530...17,682,132 		JBrowse link
G LOC102023047 chromosome unknown open reading frame, human C11orf68 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,409,368...19,410,742
Ensembl chrNW_004955422:19,409,369...19,410,124 		JBrowse link
G LOC102027539 chromosome unknown open reading frame, human C11orf86 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,407,695...18,415,495
Ensembl chrNW_004955422:18,407,636...18,421,606 		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 chrNW_004955422:18,524,786...18,527,916
Ensembl chrNW_004955422:18,524,786...18,527,916 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		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 chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,433,589...16,440,506
Ensembl chrNW_004955422:16,433,743...16,441,739 		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 chrNW_004955422:19,651,371...19,666,468
Ensembl chrNW_004955422:19,651,372...19,667,924 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,980,896...16,981,906
Ensembl chrNW_004955422:16,980,932...16,981,903 		JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,950,136...16,957,971
Ensembl chrNW_004955422:16,950,136...16,958,623 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,897,202...18,901,896
Ensembl chrNW_004955422:18,897,027...18,903,975 		JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,047,782...17,060,963
Ensembl chrNW_004955422:17,047,782...17,061,913 		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 chrNW_004955422:19,471,552...19,479,121
Ensembl chrNW_004955422:19,471,552...19,479,121 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,907,328...18,913,088
Ensembl chrNW_004955422:18,907,322...18,913,428 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,867,395...17,876,272 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 chrNW_004955422:19,524,420...19,528,938
Ensembl chrNW_004955422:19,522,384...19,534,450 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,070,369...19,240,424
Ensembl chrNW_004955422:19,070,414...19,240,424 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004955422:19,628,243...19,650,163
Ensembl chrNW_004955422:19,628,696...19,649,634 		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 chrNW_004955422:18,868,696...18,877,826
Ensembl chrNW_004955422:18,868,696...18,877,438 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,985,698...17,997,204 JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,939,971...19,963,753
Ensembl chrNW_004955422:19,939,933...19,963,753 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,116,604...18,118,280
Ensembl chrNW_004955422:18,116,610...18,118,280 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,076,670...18,079,859
Ensembl chrNW_004955422:18,076,670...18,079,859 		JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,247,133...17,387,870
Ensembl chrNW_004955422:17,247,076...17,387,990 		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 chrNW_004955422:18,041,094...18,043,687
Ensembl chrNW_004955422:18,042,894...18,043,448 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,039,741...19,047,088
Ensembl chrNW_004955422:19,039,632...19,047,088 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,079,634...18,146,122
Ensembl chrNW_004955422:18,079,652...18,085,548 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,538,251...18,541,322
Ensembl chrNW_004955422:18,538,251...18,541,863 		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 chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,343,611...18,353,269
Ensembl chrNW_004955422:18,342,898...18,353,269 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,989,814...18,996,570
Ensembl chrNW_004955422:18,990,698...18,997,838 		JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004955422:19,556,129...19,557,416
Ensembl chrNW_004955422:19,556,396...19,557,307 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,043,785...18,050,406
Ensembl chrNW_004955422:18,041,729...18,050,406 		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 chrNW_004955422:19,360,641...19,370,623
Ensembl chrNW_004955422:19,360,641...19,371,105 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,242,041...19,266,479
Ensembl chrNW_004955422:19,240,974...19,257,104 		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 chrNW_004955422:19,615,440...19,627,195
Ensembl chrNW_004955422:19,615,440...19,627,088 		JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,854,935...19,864,585
Ensembl chrNW_004955422:19,854,708...19,866,538 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,960,862...18,970,312
Ensembl chrNW_004955422:18,960,862...18,972,676 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,149,846...18,158,257
Ensembl chrNW_004955422:18,147,149...18,158,254 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,359,105...18,381,312
Ensembl chrNW_004955422:18,357,025...18,374,621 		JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,069,686...18,075,795
Ensembl chrNW_004955422:18,069,686...18,075,794 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,857,038...17,866,507
Ensembl chrNW_004955422:17,859,775...17,866,226 		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 chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:17,161,396...17,199,649
Ensembl chrNW_004955422:17,160,711...17,199,701 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,880,777...19,883,567
Ensembl chrNW_004955422:19,880,777...19,883,567 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,013,547...18,018,155
Ensembl chrNW_004955422:18,013,617...18,017,865 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,021,524...19,026,241
Ensembl chrNW_004955422:19,019,879...19,026,247 		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 chrNW_004955422:18,541,350...18,726,269 JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:16,899,730...16,923,962
Ensembl chrNW_004955422:16,900,239...16,923,978 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:19,372,072...19,389,144
Ensembl chrNW_004955422:19,372,879...19,389,049 		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 chrNW_004955422:17,814,174...17,823,945
Ensembl chrNW_004955422:17,814,079...17,824,190 		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 chrNW_004955422:19,028,871...19,032,850
Ensembl chrNW_004955422:19,028,291...19,032,850 		JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004955422:18,813,325...18,819,878
Ensembl chrNW_004955422:18,812,821...18,819,878 		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 chrNW_004955422:19,693,190...19,694,995
Ensembl chrNW_004955422:19,693,195...19,694,995 		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 chrNW_004955415:31,936,588...31,939,540
Ensembl chrNW_004955415:31,936,757...31,939,339 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,907,660...31,935,769
Ensembl chrNW_004955415:31,907,630...31,939,762 		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 OMIM
ClinVar		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chrNW_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,957,244...31,969,922
Ensembl chrNW_004955415:31,957,489...31,969,859 		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 chrNW_004955445:19,116,945...19,127,469
Ensembl chrNW_004955445:19,117,226...19,127,469 		JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955445:18,809,389...18,975,858
Ensembl chrNW_004955445:18,809,023...18,976,255 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955422:24,481,246...24,490,529 JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955422:24,429,672...24,457,679
Ensembl chrNW_004955422:24,429,608...24,455,870 		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 chrNW_004955422:24,549,990...24,612,899
Ensembl chrNW_004955422:24,550,217...24,613,050 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955445:19,121,164...19,125,514
Ensembl chrNW_004955445:19,121,164...19,125,514 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955422:24,620,068...24,695,203
Ensembl chrNW_004955422:24,620,078...24,695,229 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004955422:24,497,288...24,550,439
Ensembl chrNW_004955422:24,497,228...24,550,439 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830 		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 chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695 		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 chrNW_004955422:24,781,476...24,795,112
Ensembl chrNW_004955422:24,781,806...24,793,625 		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 chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		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 chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349 		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 chrNW_004955408:11,871,335...11,879,041
Ensembl chrNW_004955408:11,870,524...11,879,041 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102009926 chromosome unknown open reading frame, human C12orf57 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760 		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 chrNW_004955449:3,428,311...3,458,723
Ensembl chrNW_004955449:3,428,888...3,458,377 		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 OMIM
ClinVar		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chrNW_004955475:3,260,209...3,263,586
Ensembl chrNW_004955475:3,260,503...3,262,380 		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 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 OMIM
ClinVar		 PMID:25374358 PMID:25741868 NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023 		JBrowse link
amyotrophic lateral sclerosis type 6 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: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association		 ISO ClinVar Annotator: match by term: Guam disease
DNA:mutation:cds: p.T1482I (human)		 OMIM
ClinVar
RGD		 PMID:19405049 PMID:25741868 PMID:28492532 RGD:5685008 NCBI chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908 		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 chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		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 chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		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 chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		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 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		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 chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361 		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 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
ClinVar		 PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chrNW_004955453:6,935,372...6,957,808
Ensembl chrNW_004955453:6,935,371...6,958,103 		JBrowse link
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chrNW_004955452:8,185,550...8,218,711
Ensembl chrNW_004955452:8,185,550...8,218,950 		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 chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		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 chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955424:21,962,837...22,067,745
Ensembl chrNW_004955424:21,927,079...22,050,371 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058 		JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955547:2,584,425...2,598,770
Ensembl chrNW_004955547:2,533,377...2,598,833 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		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 chrNW_004955504:121,739...191,871
Ensembl chrNW_004955504:122,562...189,297 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:416,145...434,132
Ensembl chrNW_004955504:415,904...434,142 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:305,181...335,791
Ensembl chrNW_004955504:305,161...335,477 		JBrowse link
G Clptm1l CLPTM1 like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:677,824...695,660
Ensembl chrNW_004955504:677,772...695,660 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:195,743...223,812
Ensembl chrNW_004955504:196,695...223,812 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:937,152...940,842
Ensembl chrNW_004955504:937,621...940,787 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:760,941...791,996
Ensembl chrNW_004955504:758,881...791,996 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:890,779...891,343 JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:893,112...903,282
Ensembl chrNW_004955504:893,112...903,282 		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 chrNW_004955504:507,253...527,275
Ensembl chrNW_004955504:507,388...526,407 		JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:75,378...94,654
Ensembl chrNW_004955504:74,944...98,282 		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 chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		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 chrNW_004955504:529,183...589,728
Ensembl chrNW_004955504:530,343...568,569 		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 chrNW_004955504:634,615...644,667
Ensembl chrNW_004955504:634,665...644,576 		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 chrNW_004955504:617,683...633,594
Ensembl chrNW_004955504:616,768...633,654 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		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 chrNW_004955504:226,192...260,632
Ensembl chrNW_004955504:228,049...260,650 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chrNW_004955504:434,187...452,636
Ensembl chrNW_004955504:434,159...452,671 		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 chrNW_004955495:6,818,002...6,838,177
Ensembl chrNW_004955495:6,815,562...6,836,772 		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 chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chrNW_004955407:40,792,089...40,879,872
Ensembl chrNW_004955407:40,792,887...40,874,760 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709 		JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO ClinVar Annotator: match by term: Frontotemporal dementia RGD
ClinVar		 PMID:16979267 PMID:25741868 PMID:26467025 PMID:28492532 RGD:5688721 NCBI chrNW_004955407:6,014,478...6,047,916
Ensembl chrNW_004955407:6,014,478...6,047,916 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955450:1,013,897...1,030,232
Ensembl chrNW_004955450:1,013,607...1,030,282 		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 chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825 		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 chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 PMID:35873773 NCBI chrNW_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558 		JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955430:2,678,166...2,690,555
Ensembl chrNW_004955430:2,678,166...2,690,555 		JBrowse link
G Grn granulin precursor ISO 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 ClinVar PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 More... NCBI chrNW_004955451:17,368,600...17,371,981
Ensembl chrNW_004955451:17,368,428...17,372,377 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chrNW_004955410:28,032,193...28,042,459
Ensembl chrNW_004955410:28,032,193...28,042,459 		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 chrNW_004955478:10,039,687...10,221,170
Ensembl chrNW_004955478:10,040,284...10,221,170 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Mapt microtubule associated protein tau no_association ISO DNA:haplotype
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		 RGD
OMIM
ClinVar		 PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More... RGD:8158108 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chrNW_004955453:16,820,344...16,933,106
Ensembl chrNW_004955453:16,820,344...16,933,152 		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 chrNW_004955486:2,641,730...2,655,125 JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955418:22,537,388...22,701,434
Ensembl chrNW_004955418:22,537,285...22,701,434 		JBrowse link
G Mobp myelin associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chrNW_004955420:29,902,036...29,957,364 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		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 chrNW_004955407:5,996,016...6,011,483
Ensembl chrNW_004955407:5,996,016...6,011,483 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Psen1 presenilin 1 ISO 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
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		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 chrNW_004955478:10,368,379...10,370,624
Ensembl chrNW_004955478:10,365,857...10,370,548 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia ClinVar PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chrNW_004955416:28,499,077...28,507,907
Ensembl chrNW_004955416:28,499,634...28,507,867 		JBrowse link
G Tnk1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chrNW_004955467:9,539,693...9,547,419
Ensembl chrNW_004955467:9,539,693...9,547,279 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955437:7,780,886...7,785,597
Ensembl chrNW_004955437:7,780,679...7,785,697 		JBrowse link
G Vcp valosin containing protein ISO OMIM:600274 MouseDO NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		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 chrNW_004955450:15,853,372...15,927,966
Ensembl chrNW_004955450:15,853,366...15,928,200 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chrNW_004955472:7,299,092...7,337,591
Ensembl chrNW_004955472:7,310,788...7,337,735 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:36,175,312...36,307,250 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 chrNW_004955408:1,157,826...1,367,146
Ensembl chrNW_004955408:1,157,740...1,367,146 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955472:7,299,092...7,337,591
Ensembl chrNW_004955472:7,310,788...7,337,735 		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 chrNW_004955408:850,773...894,362
Ensembl chrNW_004955408:848,808...894,362 		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 chrNW_004955408:1,421,132...1,432,010
Ensembl chrNW_004955408:1,421,132...1,433,622 		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 chrNW_004955408:937,706...944,969
Ensembl chrNW_004955408:936,595...948,064 		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 chrNW_004955408:788,856...791,505 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 chrNW_004955408:802,277...850,218
Ensembl chrNW_004955408:804,535...813,475 		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 chrNW_004955408:784,826...788,464
Ensembl chrNW_004955408:784,890...788,030 		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 chrNW_004955408:946,842...991,717
Ensembl chrNW_004955408:947,317...982,333 		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 chrNW_004955408:757,426...764,989
Ensembl chrNW_004955408:757,426...771,615 		JBrowse link
G Znf354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chrNW_004955417:2,853,263...2,854,930 JBrowse link
G Znf879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chrNW_004955408:1,376,117...1,405,204 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 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chrNW_004955455:8,472,833...8,474,745
Ensembl chrNW_004955455:8,472,833...8,479,129 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chrNW_004955455:8,474,717...8,478,840
Ensembl chrNW_004955455:8,470,295...8,477,310 		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 OMIM
ClinVar		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chrNW_004955408:757,426...764,989
Ensembl chrNW_004955408:757,426...771,615 		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 chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962 		JBrowse link
G Tbk1 TANK binding kinase 1 susceptibility ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chrNW_004955458:11,210,120...11,263,632
Ensembl chrNW_004955458:11,211,398...11,263,867 		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 chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		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 chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:2,283,426...2,297,251 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 chrNW_004955472:633,474...636,440
Ensembl chrNW_004955472:633,405...640,305 		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 chrNW_004955472:1,503,448...1,510,965
Ensembl chrNW_004955472:1,504,032...1,510,590 		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 chrNW_004955472:1,066,661...1,077,960
Ensembl chrNW_004955472:1,071,615...1,077,960 		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 chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317 		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 chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		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 chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 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 chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		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 chrNW_004955472:1,427,660...1,428,771
Ensembl chrNW_004955472:1,427,710...1,429,102 		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 chrNW_004955472:1,470,407...1,474,800
Ensembl chrNW_004955472:1,471,551...1,474,777 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 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 chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		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 chrNW_004955472:96,958...117,230
Ensembl chrNW_004955472:97,235...117,144 		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 chrNW_004955472:1,540,973...1,577,734
Ensembl chrNW_004955472:1,540,973...1,579,947 		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 chrNW_004955472:564,227...568,708
Ensembl chrNW_004955472:564,493...568,491 		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 chrNW_004955472:1,943,477...1,974,938
Ensembl chrNW_004955472:1,943,477...1,974,938 		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 chrNW_004955472:1,511,984...1,521,148
Ensembl chrNW_004955472:1,511,937...1,521,494 		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 chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024 		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 chrNW_004955472:2,604,002...2,618,033
Ensembl chrNW_004955472:2,604,002...2,618,033 		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 chrNW_004955472:1,168,568...1,177,849
Ensembl chrNW_004955472:1,167,160...1,178,726 		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 chrNW_004955472:1,597,488...1,599,274
Ensembl chrNW_004955472:1,503,498...1,599,274 		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 chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		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 chrNW_004955472:1,668,400...1,718,194
Ensembl chrNW_004955472:1,668,431...1,718,187 		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 chrNW_004955472:489,530...497,224
Ensembl chrNW_004955472:491,251...497,186 		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 chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		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 chrNW_004955419:28,915,083...28,969,374
Ensembl chrNW_004955419:28,897,288...28,969,374 		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 chrNW_004955419:28,717,277...28,888,486
Ensembl chrNW_004955419:28,716,494...28,888,495 		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 chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		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 chrNW_004955472:553,556...564,411
Ensembl chrNW_004955472:553,556...564,411 		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 chrNW_004955472:191,886...201,551
Ensembl chrNW_004955472:189,858...201,549 		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 chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		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 chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257 		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 chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352
Ensembl chrNW_004955472:1,475,178...1,482,206 		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 chrNW_004955472:1,774,850...1,868,525
Ensembl chrNW_004955472:1,792,520...1,860,056 		JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056
Ensembl chrNW_004955472:452,944...453,879 		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 chrNW_004955419:29,718,291...29,815,163
Ensembl chrNW_004955419:29,717,978...29,815,170 		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 chrNW_004955472:549,115...550,247
Ensembl chrNW_004955472:549,115...550,247 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		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 chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433 		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 chrNW_004955472:2,306,961...2,371,597
Ensembl chrNW_004955472:2,307,682...2,371,433 		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 chrNW_004955472:2,210,490...2,225,275
Ensembl chrNW_004955472:2,211,079...2,224,259 		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 chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		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 chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539 		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 chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952 		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 chrNW_004955472:1,186,021...1,204,018
Ensembl chrNW_004955472:1,185,110...1,204,040 		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 chrNW_004955472:1,084,932...1,094,243
Ensembl chrNW_004955472:1,084,932...1,094,243 		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 chrNW_004955419:28,970,982...28,983,862
Ensembl chrNW_004955419:28,967,083...28,983,862 		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 chrNW_004955472:222,261...276,869
Ensembl chrNW_004955472:223,683...287,089 		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 chrNW_004955472:550,198...554,038
Ensembl chrNW_004955472:550,198...554,038 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:3,093,895...3,135,524
Ensembl chrNW_004955472:3,093,939...3,133,987 		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 chrNW_004955419:29,903,917...30,063,705
Ensembl chrNW_004955419:29,993,358...30,063,705 		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 chrNW_004955472:1,521,651...1,522,599 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 chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		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 chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377 		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 chrNW_004955472:643,923...645,802 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 chrNW_004955472:2,570,248...2,600,551
Ensembl chrNW_004955472:2,570,340...2,600,146 		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 chrNW_004955472:503,286...506,261
Ensembl chrNW_004955472:504,087...505,835 		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 chrNW_004958072:16...1,146 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 chrNW_004955472:2,406,279...2,415,668
Ensembl chrNW_004955472:2,406,279...2,415,668 		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 chrNW_004955472:1,718,474...1,733,980
Ensembl chrNW_004955472:1,718,517...1,735,004 		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 chrNW_004955472:1,079,261...1,082,632
Ensembl chrNW_004955472:1,079,578...1,082,486 		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 chrNW_004955472:670,847...676,060
Ensembl chrNW_004955472:668,352...699,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		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 chrNW_004955472:2,875,398...2,879,115
Ensembl chrNW_004955472:2,875,398...2,879,115 		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 chrNW_004955472:467,027...489,287
Ensembl chrNW_004955472:467,492...488,892 		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 chrNW_004955419:28,897,328...28,900,289 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 chrNW_004955472:3,073,090...3,076,607 JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		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 chrNW_004955419:28,693,509...28,720,006
Ensembl chrNW_004955419:28,693,821...28,713,349 		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 chrNW_004955472:1,860,476...1,903,478
Ensembl chrNW_004955472:1,860,476...1,903,478 		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 chrNW_004955472:2,044,397...2,100,904
Ensembl chrNW_004955472:2,020,232...2,100,155 		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 OMIM
ClinVar		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 More... NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955419:29,000,070...29,032,446
Ensembl chrNW_004955419:29,001,265...29,032,446 		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 chrNW_004955419:29,108,905...29,339,602
Ensembl chrNW_004955419:29,108,644...29,334,670 		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 ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chrNW_004955407:6,014,478...6,047,916
Ensembl chrNW_004955407:6,014,478...6,047,916 		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 chrNW_004955407:5,996,016...6,011,483
Ensembl chrNW_004955407:5,996,016...6,011,483 		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 chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709 		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 chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925 		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 chrNW_004955506:1,868,624...1,936,786
Ensembl chrNW_004955506:1,868,624...1,936,786 		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 chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173 		JBrowse link
G Drd2 dopamine receptor D2 treatment ISO mRNA:increased expression:striatum (rat) RGD PMID:19467315 PMID:22876458 RGD:2311576 RGD:6907444 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Drd4 dopamine receptor D4 no_association
susceptibility		 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:8725747 PMID:25258183 RGD:13209010 RGD:13210516 NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377 		JBrowse link
G Hdc histidine decarboxylase susceptibility ISO ClinVar Annotator: match by term: Tourette syndrome OMIM
ClinVar		 PMID:20445167 PMID:24411733 PMID:25741868 PMID:25741909 NCBI chrNW_004955409:4,051,574...4,072,641
Ensembl chrNW_004955409:4,051,271...4,072,642 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO OMIM:137580 MouseDO NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO OMIM:137580 MouseDO NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Tourette syndrome OMIM
ClinVar		 PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20301778 More... NCBI chrNW_004955404:24,436,394...24,439,749
Ensembl chrNW_004955404:24,437,299...24,439,389 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar NCBI chrNW_004955413:18,831,931...19,676,371
Ensembl chrNW_004955413:18,831,931...19,204,217 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chrNW_004955471:11,229,795...11,245,255
Ensembl chrNW_004955471:11,229,273...11,245,375 		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 chrNW_004955451:17,265,904...17,273,289 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 chrNW_004955451:17,280,659...17,286,140
Ensembl chrNW_004955451:17,280,659...17,286,140 		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 chrNW_004955451:17,219,763...17,221,889
Ensembl chrNW_004955451:17,219,551...17,221,689 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions OMIM
ClinVar		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... NCBI chrNW_004955451:17,368,600...17,371,981
Ensembl chrNW_004955451:17,368,428...17,372,377 		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 chrNW_004955451:17,223,217...17,246,451
Ensembl chrNW_004955451:17,223,287...17,244,051 		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 chrNW_004955451:17,256,593...17,264,872 JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chrNW_004955451:17,194,409...17,213,547
Ensembl chrNW_004955451:17,195,287...17,213,547 		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 chrNW_004955451:17,348,822...17,352,271
Ensembl chrNW_004955451:17,346,844...17,352,497 		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 chrNW_004955451:17,352,853...17,356,466
Ensembl chrNW_004955451:17,352,796...17,355,551 		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 chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103 		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 chrNW_004955451:17,277,530...17,280,585
Ensembl chrNW_004955451:17,276,575...17,279,995 		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 chrNW_004955451:17,294,163...17,302,807
Ensembl chrNW_004955451:17,294,251...17,302,746 		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 ISO RGD PMID:152600 PMID:6237280 RGD:10046047 RGD:10047058 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chrNW_004955559:1,008,208...1,013,023
Ensembl chrNW_004955559:1,008,208...1,013,023 		JBrowse link
G Atrx ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724 		JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244 		JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:17885687 PMID:18093249 PMID:19499586 RGD:10058981 RGD:10059353 RGD:10415531 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053 		JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:striatum:
protein:increased expression:caudate nucleus:		 RGD PMID:12095160 RGD:13432083 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738 		JBrowse link
G Cat catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Cebpa CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:17213233 PMID:21651979 RGD:10401191 RGD:6484269 NCBI chrNW_004955468:3,046,544...3,049,217
Ensembl chrNW_004955468:3,047,931...3,049,080 		JBrowse link
G Cebpb CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chrNW_004955445:8,060,432...8,061,289 JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chrNW_004955556:650,290...695,135
Ensembl chrNW_004955556:650,279...693,276 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069 		JBrowse link
G Cntf ciliary neurotrophic factor treatment ISO human gene in a cynomolgus monkey model RGD PMID:9121555 PMID:12040055 RGD:628474 RGD:734795 NCBI chrNW_004955511:3,527,552...3,531,275
Ensembl chrNW_004955511:3,527,552...3,534,348 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:10059577 RGD:734817 NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149 		JBrowse link
G Crebbp CREB binding protein disease_progression
treatment		 ISO protein:altered localization:nucleus RGD PMID:11264541 PMID:19291221 PMID:20448484 RGD:10059583 RGD:13432093 RGD:13432094 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837 		JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004955482:6,354,502...6,364,424
Ensembl chrNW_004955482:6,354,146...6,365,344 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		JBrowse link
G Dnah6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chrNW_004955424:2,575,333...2,788,742
Ensembl chrNW_004955424:2,575,496...2,787,739 		JBrowse link
G Drd1 dopamine receptor D1 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 PMID:18815258 RGD:2302117 RGD:5686414 RGD:7248682 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595 		JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004955514:5,450,495...5,452,282 JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chrNW_004955422:27,638,625...27,643,261
Ensembl chrNW_004955422:27,633,827...27,642,241 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chrNW_004955441:4,908,318...4,944,343 JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871 		JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004955464:11,873,368...11,885,366
Ensembl chrNW_004955464:11,873,368...11,885,369 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:striatum (mouse)		 RGD PMID:16405510 RGD:11560524 NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chrNW_004955481:3,671,728...3,681,279
Ensembl chrNW_004955481:3,670,111...3,685,051 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chrNW_004955411:27,096,214...27,759,503
Ensembl chrNW_004955411:27,103,470...27,801,177 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)		 RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059 		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:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 disease_progression
treatment		 ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chrNW_004955414:4,424,245...4,919,399 JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864 		JBrowse link
G Hdac3 histone deacetylase 3 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234 		JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chrNW_004955500:6,692,656...6,707,453
Ensembl chrNW_004955500:6,693,668...6,709,864 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348 		JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chrNW_004955452:11,142,282...11,150,798
Ensembl chrNW_004955452:11,140,373...11,154,261 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO protein:decreased expression:liver (mouse)
human gene in a mouse model		 RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372 RGD:10402386 RGD:10402387 NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		JBrowse link
G Htt huntingtin onset
treatment		 ISO ClinVar Annotator: match by term: Huntington disease
DNA:repeats:cds:CAG (human)		 OMIM
ClinVar
RGD		 PMID:8242074 PMID:17940007 PMID:25741868 PMID:25741909 PMID:28492532 RGD:10403026 RGD:10403029 NCBI chrNW_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889 		JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004955427:8,814,298...8,871,671
Ensembl chrNW_004955427:8,814,298...8,871,720 		JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122 		JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:15371744 PMID:23384443 PMID:25140802 RGD:10045865 RGD:10045870 RGD:12904970 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409 		JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G LOC102023786 cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chrNW_004955410:27,086,405...27,089,255
Ensembl chrNW_004955410:27,086,405...27,089,255 		JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593 		JBrowse link
G Map2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment		 ISO DNa:SNO:promoter:rs5880308(human)
protein:increased expression:cortex,striatum,nucleus:		 RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808 		JBrowse link
G Mbp myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chrNW_004955403:22,636,212...22,658,566
Ensembl chrNW_004955403:22,636,212...22,658,566 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chrNW_004955410:8,217,684...8,233,302
Ensembl chrNW_004955410:8,220,400...8,247,486 		JBrowse link
G Ncor1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chrNW_004955467:1,408,292...1,568,539
Ensembl chrNW_004955467:1,409,281...1,546,842 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305 		JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Npy neuropeptide Y no_association
onset		 ISO mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)
DNA:SNP: :rs3037354 (human)		 RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114 		JBrowse link
G Nrf1 nuclear respiratory factor 1 onset ISO DNA:SNPs: :rs6949152, rs7781972 (human)
mRNA:decreased expression:striatum		 RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chrNW_004955479:10,325,214...10,471,421
Ensembl chrNW_004955479:10,324,443...10,472,875 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chrNW_004955407:39,853,029...39,908,151
Ensembl chrNW_004955407:39,853,034...39,908,151 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chrNW_004955422:20,810,871...20,827,267
Ensembl chrNW_004955422:20,810,544...20,827,267 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
no_association
treatment
severity		 ISO DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
DNA:snps, haplotypes:multiple (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
mRNA:decreased expression:caudate nucleus (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
mRNA:decreased expression:medium spiny neuron (mouse)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:subthalamic nucleus (rat)
protein:increased expression:brain (human)		 RGD PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 More... RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chrNW_004955451:14,378,186...14,394,910
Ensembl chrNW_004955451:14,389,533...14,394,169 		JBrowse link
G Ppp1r9a protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus		 RGD PMID:20089533 RGD:10043799 NCBI chrNW_004955432:11,607,269...11,891,568
Ensembl chrNW_004955432:11,608,382...11,886,044 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816 		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 RGD:6484534 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chrNW_004955493:7,225,472...7,243,078
Ensembl chrNW_004955493:7,224,983...7,242,852 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chrNW_004955407:33,873,427...33,951,762
Ensembl chrNW_004955407:33,873,383...33,951,498 		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 chrNW_004955588:290,497...338,438
Ensembl chrNW_004955588:290,168...338,426 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450 		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:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:striatum
mRNA, protein:decreased expression:brain, spinal cord		 RGD PMID:16987871 RGD:5686805 NCBI chrNW_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566 		JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chrNW_004955422:10,929,987...11,082,220
Ensembl chrNW_004955422:10,930,296...11,073,032 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chrNW_004955437:9,850,279...9,862,412
Ensembl chrNW_004955437:9,855,434...9,861,929 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chrNW_004955445:13,663,474...13,669,102
Ensembl chrNW_004955445:13,661,209...13,669,102 		JBrowse link
G Syne3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chrNW_004955438:17,093,612...17,178,177
Ensembl chrNW_004955438:17,094,586...17,177,216 		JBrowse link
G Tbp TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chrNW_004955495:2,770,449...2,780,650
Ensembl chrNW_004955495:2,770,713...2,780,568 		JBrowse link
G Ucp1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:17055784 PMID:20561979 RGD:10045649 RGD:10045650 NCBI chrNW_004955428:3,253,363...3,282,518
Ensembl chrNW_004955428:3,274,810...3,283,237 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477 		JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615 		JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chrNW_004955405:15,915,756...15,997,777
Ensembl chrNW_004955405:15,915,756...15,997,777 		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 chrNW_004955415:14,523,517...14,535,701
Ensembl chrNW_004955415:14,524,354...14,533,700 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,596,522...14,610,181
Ensembl chrNW_004955415:14,596,522...14,610,181 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,000,257...15,022,712
Ensembl chrNW_004955415:15,000,257...15,022,712 		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 chrNW_004955415:14,665,450...14,669,456
Ensembl chrNW_004955415:14,664,849...14,672,478 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,341,635...14,505,955
Ensembl chrNW_004955415:14,340,403...14,506,024 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,762,672...15,806,454
Ensembl chrNW_004955415:15,792,239...15,806,454 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,311,769...16,324,962
Ensembl chrNW_004955415:16,311,621...16,325,019 		JBrowse link
G Cpxm1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,756,752...13,763,764
Ensembl chrNW_004955415:13,756,889...13,763,120 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,389,379...16,410,486
Ensembl chrNW_004955415:16,389,389...16,411,238 		JBrowse link
G CUNH20orf141 chromosome unknown C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,770,300...13,771,257 JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,085,404...14,098,220
Ensembl chrNW_004955415:14,085,404...14,098,856 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,148,462...14,276,908
Ensembl chrNW_004955415:14,151,551...14,276,627 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,673,700...13,734,344
Ensembl chrNW_004955415:13,673,700...13,734,344 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,052,009...14,063,208
Ensembl chrNW_004955415:14,052,406...14,054,850 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,513,183...14,514,140 JBrowse link
G Gnrh2 gonadotropin releasing hormone 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,970,416...13,974,147 JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,062,068...16,118,029
Ensembl chrNW_004955415:16,060,931...16,118,059 		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 chrNW_004955415:14,576,956...14,596,135
Ensembl chrNW_004955415:14,576,354...14,596,135 		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 chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,413,666...16,423,605
Ensembl chrNW_004955415:16,411,369...16,423,814 		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 chrNW_004955415:14,065,338...14,075,718
Ensembl chrNW_004955415:14,065,338...14,072,617 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,691,918...14,704,782
Ensembl chrNW_004955415:14,695,438...14,703,672 		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 chrNW_004955415:16,345,472...16,379,922
Ensembl chrNW_004955415:16,346,253...16,379,021 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,974,393...13,976,839
Ensembl chrNW_004955415:13,974,393...13,976,839 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,786,243...13,792,914
Ensembl chrNW_004955415:13,782,986...13,792,914 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,469,500...15,474,817
Ensembl chrNW_004955415:15,469,500...15,474,817 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES OMIM
ClinVar		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582 		JBrowse link
G Ptpra protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,819,934...13,967,068
Ensembl chrNW_004955415:13,819,717...13,967,068 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,500,726...15,542,939
Ensembl chrNW_004955415:15,500,726...15,541,135 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,755,539...14,816,046
Ensembl chrNW_004955415:14,755,539...14,816,188 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,180,074...16,282,937
Ensembl chrNW_004955415:16,180,051...16,280,864 		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 chrNW_004955415:14,539,284...14,560,614
Ensembl chrNW_004955415:14,536,266...14,560,632 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,937,438...14,971,874
Ensembl chrNW_004955415:14,937,131...14,989,972 		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 chrNW_004955415:13,522,638...13,530,725
Ensembl chrNW_004955415:13,520,530...13,531,466 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,620,593...14,626,049
Ensembl chrNW_004955415:14,620,593...14,626,049 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,212,152...13,249,097
Ensembl chrNW_004955415:13,212,152...13,249,102 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,391,857...13,435,342
Ensembl chrNW_004955415:13,391,831...13,436,007 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
G Tmc2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,545,266...13,626,125
Ensembl chrNW_004955415:13,565,935...13,625,843 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,733,134...15,743,078
Ensembl chrNW_004955415:15,733,134...15,742,909 		JBrowse link
G Tmem239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,771,688...13,772,415
Ensembl chrNW_004955415:13,771,688...13,772,415 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,333,766...16,390,112
Ensembl chrNW_004955415:16,330,482...16,344,973 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,025,908...14,063,204
Ensembl chrNW_004955415:14,023,082...14,040,307 		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 chrNW_004955415:13,791,611...13,813,500
Ensembl chrNW_004955415:13,791,611...13,813,500 		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 chrNW_004955536:166,212...172,551
Ensembl chrNW_004955536:166,212...172,551 		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 chrNW_004955536:189,881...229,835
Ensembl chrNW_004955536:190,949...232,424 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		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 OMIM
ClinVar		 PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 More... NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004955536:380,062...384,608
Ensembl chrNW_004955536:377,517...387,978 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		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 OMIM
ClinVar		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		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 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar		 PMID:21409505 PMID:23913003 PMID:25741868 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987 		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 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification OMIM
ClinVar		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chrNW_004955406:19,831,398...19,980,994
Ensembl chrNW_004955406:19,797,245...19,974,911 		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 (putative) 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 chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		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 chrNW_004955407:25,531,891...25,599,551
Ensembl chrNW_004955407:25,571,570...25,599,551 		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 chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349 		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 chrNW_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214 		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 chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744 		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 chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991 		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 chrNW_004955486:9,383,502...9,384,519 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 chrNW_004955486:8,109,291...8,128,184
Ensembl chrNW_004955486:8,109,291...8,123,404 		JBrowse link
G Aurkaip1 aurora kinase A interacting 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 chrNW_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857 		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 chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459 		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 chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097 		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 chrNW_004955486:7,895,376...7,907,678 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 chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811 		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 chrNW_004955486:9,251,242...9,270,218 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 chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047 		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 chrNW_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600 		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 chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog 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 chrNW_004955486:9,632,940...9,659,682
Ensembl chrNW_004955486:9,638,645...9,659,682 		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 chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984 		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 chrNW_004955486:8,938,352...8,944,631 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 chrNW_004955486:9,301,802...9,303,246 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 chrNW_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557 		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 chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066 		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 chrNW_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748 		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 chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629 		JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949 		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 chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874 		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 chrNW_004955486:7,880,259...7,890,709
Ensembl chrNW_004955486:7,880,259...7,889,274 		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 chrNW_004955486:8,029,200...8,103,395
Ensembl chrNW_004955486:8,029,200...8,102,876 		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 chrNW_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682 		JBrowse link
G Mmel1 membrane metalloendopeptidase 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 chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053 		JBrowse link
G Mmp23b matrix metallopeptidase 23B 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 chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420 		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 chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445 		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 chrNW_004955486:9,417,925...9,420,789 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 chrNW_004955486:9,452,707...9,456,640 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 chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538 		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 chrNW_004955486:9,750,969...9,763,622
Ensembl chrNW_004955486:9,751,053...9,767,104 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) 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 chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377 		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 chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		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 chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228 		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 chrNW_004955486:9,736,801...9,744,659
Ensembl chrNW_004955486:9,737,365...9,744,111 		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 chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977 		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 chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702 		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 chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469 		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 chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520 		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 chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691 		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 chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467 		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 chrNW_004955486:9,763,704...9,781,132
Ensembl chrNW_004955486:9,763,725...9,779,197 		JBrowse link
G Scnn1d sodium channel epithelial 1 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 chrNW_004955486:9,508,435...9,514,107 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 chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340 		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 chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		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 chrNW_004955486:7,889,510...7,895,281
Ensembl chrNW_004955486:7,889,510...7,894,567 		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 chrNW_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414 		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 chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780 		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 chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025 		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 chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668 		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 chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315 		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 chrNW_004955486:8,670,182...8,684,677 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 chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733 		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 chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676 		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 chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982 		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 chrNW_004955486:8,007,678...8,013,996
Ensembl chrNW_004955486:8,007,842...8,013,910 		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 chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399 		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 chrNW_004955486:9,576,174...9,589,297 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 chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562 		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 chrNW_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115 		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 chrNW_004955486:7,992,684...8,006,121
Ensembl chrNW_004955486:7,992,015...8,006,115 		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 chrNW_004955437:13,119,782...13,161,196
Ensembl chrNW_004955437:13,119,782...13,161,536 		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 chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955410:28,032,193...28,042,459
Ensembl chrNW_004955410:28,032,193...28,042,459 		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 chrNW_004955458:1,530,163...1,536,874 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 chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955458:1,530,163...1,536,874 JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D290V (human)		 CTD
RGD		 PMID:23455423 RGD:10395280 NCBI chrNW_004955410:28,032,193...28,042,459
Ensembl chrNW_004955410:28,032,193...28,042,459 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Vcp valosin containing protein ISO 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 ClinVar PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		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 chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731 		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 chrNW_004955439:18,152,719...18,664,026
Ensembl chrNW_004955439:18,153,227...18,663,780 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chrNW_004955486:4,986,245...5,009,437
Ensembl chrNW_004955486:4,989,582...5,010,213 		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 ClinVar Annotator: match by term: Kufor-Rakeb syndrome OMIM
ClinVar		 PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 More... NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344 		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 susceptibility ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955496:8,136,279...8,149,496 JBrowse link
G Atxn2 ataxin 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219 		JBrowse link
G Atxn3 ataxin 3 ISO OMIM NCBI chrNW_004955438:14,405,415...14,443,457
Ensembl chrNW_004955438:14,405,643...14,440,009 		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 chrNW_004955579:240,058...298,592
Ensembl chrNW_004955579:240,058...298,592 		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 chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to OMIM
ClinVar		 PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 NCBI chrNW_004955420:23,161,541...23,179,788
Ensembl chrNW_004955420:23,161,078...23,180,568 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chrNW_004955463:528,651...536,927
Ensembl chrNW_004955463:528,651...536,927 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset OMIM
ClinVar		 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428 		JBrowse link
G LOC102019320 mamu class II histocompatibility antigen, DR alpha chain ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chrNW_004955437:1,109,735...1,114,742
Ensembl chrNW_004955437:1,109,713...1,114,802 		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 chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Mapt microtubule associated protein tau ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		JBrowse link
G Podxl podocalyxin like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 PMID:28492532 NCBI chrNW_004955410:36,191,797...36,239,970 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 chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Sncaip synuclein alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12761037 PMID:18366718 PMID:28492532 NCBI chrNW_004955521:410,270...548,691
Ensembl chrNW_004955521:482,433...548,751 		JBrowse link
G Tbp TATA-box binding protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955437:157,509...158,919 JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia OMIM
ClinVar		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chrNW_004955479:6,061,424...6,080,129
Ensembl chrNW_004955479:6,057,276...6,080,994 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19276553 RGD:5129515 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19276553 RGD:5129515 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chrNW_004955558:1,501,806...1,509,461
Ensembl chrNW_004955558:1,502,881...1,509,558 		JBrowse link
G Mag myelin associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955468:4,584,068...4,598,772
Ensembl chrNW_004955468:4,584,162...4,598,914 		JBrowse link
G Map2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20024519 PMID:30236862 RGD:6483091 NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024 		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 chrNW_004955405:1,043,661...1,092,862
Ensembl chrNW_004955405:1,043,656...1,095,321 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889 RGD:127285384 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chrNW_004955451:4,505,318...4,530,387 JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia OMIM
ClinVar		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 More... NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Sncb synuclein beta ISO ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia OMIM
ClinVar		 PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Sncg synuclein gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid		 RGD PMID:10557341 PMID:18577885 PMID:20697047 RGD:6478704 RGD:6478792 RGD:6480095 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351185 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:26364587 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		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 chrNW_004955422:1,455,392...1,644,368
Ensembl chrNW_004955422:1,455,380...1,644,452 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 More... NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Igf2 insulin like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chrNW_004955558:1,501,806...1,509,461
Ensembl chrNW_004955558:1,502,881...1,509,558 		JBrowse link
G Mapt microtubule associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type ClinVar PMID:25741868 NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		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 chrNW_004955474:6,403,409...6,422,135 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 chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		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 chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		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 chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731 		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 chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704 		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 chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429 		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 chrNW_004955483:9,159,877...9,559,453
Ensembl chrNW_004955483:9,536,261...9,552,321 		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 chrNW_004955415:14,523,517...14,535,701
Ensembl chrNW_004955415:14,524,354...14,533,700 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,596,522...14,610,181
Ensembl chrNW_004955415:14,596,522...14,610,181 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,000,257...15,022,712
Ensembl chrNW_004955415:15,000,257...15,022,712 		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 chrNW_004955415:14,665,450...14,669,456
Ensembl chrNW_004955415:14,664,849...14,672,478 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,341,635...14,505,955
Ensembl chrNW_004955415:14,340,403...14,506,024 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,762,672...15,806,454
Ensembl chrNW_004955415:15,792,239...15,806,454 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,311,769...16,324,962
Ensembl chrNW_004955415:16,311,621...16,325,019 		JBrowse link
G Cpxm1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,756,752...13,763,764
Ensembl chrNW_004955415:13,756,889...13,763,120 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,389,379...16,410,486
Ensembl chrNW_004955415:16,389,389...16,411,238 		JBrowse link
G CUNH20orf141 chromosome unknown C20orf141 homolog ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,770,300...13,771,257 JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,085,404...14,098,220
Ensembl chrNW_004955415:14,085,404...14,098,856 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,148,462...14,276,908
Ensembl chrNW_004955415:14,151,551...14,276,627 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,673,700...13,734,344
Ensembl chrNW_004955415:13,673,700...13,734,344 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,052,009...14,063,208
Ensembl chrNW_004955415:14,052,406...14,054,850 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,513,183...14,514,140 JBrowse link
G Gnrh2 gonadotropin releasing hormone 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,970,416...13,974,147 JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,062,068...16,118,029
Ensembl chrNW_004955415:16,060,931...16,118,059 		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 chrNW_004955415:14,576,956...14,596,135
Ensembl chrNW_004955415:14,576,354...14,596,135 		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 chrNW_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,413,666...16,423,605
Ensembl chrNW_004955415:16,411,369...16,423,814 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,065,338...14,075,718
Ensembl chrNW_004955415:14,065,338...14,072,617 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:14,691,918...14,704,782
Ensembl chrNW_004955415:14,695,438...14,703,672 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,345,472...16,379,922
Ensembl chrNW_004955415:16,346,253...16,379,021 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,974,393...13,976,839
Ensembl chrNW_004955415:13,974,393...13,976,839 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938 		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 OMIM
ClinVar		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,786,243...13,792,914
Ensembl chrNW_004955415:13,782,986...13,792,914 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,469,500...15,474,817
Ensembl chrNW_004955415:15,469,500...15,474,817 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582 		JBrowse link
G Ptpra protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,819,934...13,967,068
Ensembl chrNW_004955415:13,819,717...13,967,068 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,500,726...15,542,939
Ensembl chrNW_004955415:15,500,726...15,541,135 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,755,539...14,816,046
Ensembl chrNW_004955415:14,755,539...14,816,188 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,180,074...16,282,937
Ensembl chrNW_004955415:16,180,051...16,280,864 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,539,284...14,560,614
Ensembl chrNW_004955415:14,536,266...14,560,632 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,937,438...14,971,874
Ensembl chrNW_004955415:14,937,131...14,989,972 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Sncb synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Sncg synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,522,638...13,530,725
Ensembl chrNW_004955415:13,520,530...13,531,466 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,620,593...14,626,049
Ensembl chrNW_004955415:14,620,593...14,626,049 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,212,152...13,249,097
Ensembl chrNW_004955415:13,212,152...13,249,102 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,391,857...13,435,342
Ensembl chrNW_004955415:13,391,831...13,436,007 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
G Tmc2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,545,266...13,626,125
Ensembl chrNW_004955415:13,565,935...13,625,843 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:15,733,134...15,743,078
Ensembl chrNW_004955415:15,733,134...15,742,909 		JBrowse link
G Tmem239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:13,771,688...13,772,415
Ensembl chrNW_004955415:13,771,688...13,772,415 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:16,333,766...16,390,112
Ensembl chrNW_004955415:16,330,482...16,344,973 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chrNW_004955415:14,025,908...14,063,204
Ensembl chrNW_004955415:14,023,082...14,040,307 		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 chrNW_004955415:13,791,611...13,813,500
Ensembl chrNW_004955415:13,791,611...13,813,500 		JBrowse link
Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20558393 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased phosphorylation:striatum:
protein:increased expression:brain:		 RGD PMID:20823226 PMID:24412932 RGD:8693409 RGD:8693592 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239 		JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO RGD PMID:19474411 RGD:5509846 NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799 		JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 (inactive) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955421:29,705,289...30,028,013
Ensembl chrNW_004955421:29,830,905...30,022,685 		JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955496:8,065,943...8,100,878
Ensembl chrNW_004955496:8,065,943...8,102,066 		JBrowse link
G Afdn afadin, adherens junction formation factor ISO protein:decreased expression: caudate-putamen, substantia nigra RGD PMID:23393160 RGD:13838733 NCBI chrNW_004955439:14,324,910...14,428,846
Ensembl chrNW_004955439:14,326,793...14,428,850 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:decreased expression:caudate nucleus,putamen,substantia nigra: RGD PMID:8666063 RGD:10047397 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955437:157,509...158,919 JBrowse link
G Akt1 AKT serine/threonine kinase 1 no_association ISO DNA:SNPs, haplotype:introns:multiple (human)
protein:altered expression:brain
DNA:SNPs:introns:multiple (human)		 RGD PMID:18395980 PMID:19800394 PMID:21741444 RGD:5509064 RGD:5509074 RGD:5509076 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24491970 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899 		JBrowse link
G Anxa5 annexin A5 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:10584677 RGD:10053728 NCBI chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO RGD PMID:24835407 RGD:13503333 NCBI chrNW_004955405:34,619,780...34,693,616
Ensembl chrNW_004955405:34,623,267...34,693,677 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: altered expression: cerebrospinal fluid: 2 different isoforms RGD PMID:20085559 RGD:5508216 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Arpc3 actin related protein 2/3 complex subunit 3 treatment ISO RGD PMID:20713051 RGD:11049454 NCBI chrNW_004955482:7,350,456...7,364,266
Ensembl chrNW_004955482:7,350,456...7,364,266 		JBrowse link
G Atg7 autophagy related 7 ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955429:14,076,976...14,301,034
Ensembl chrNW_004955429:14,076,960...14,304,236 		JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:cingulate gyrus RGD PMID:20502937 RGD:10053605 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		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 chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344 		JBrowse link
G Axin2 axin 2 ameliorates ISO RGD PMID:31078578 RGD:151356747 NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225 		JBrowse link
G B2m beta-2-microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chrNW_004955538:2,412,297...2,416,094
Ensembl chrNW_004955538:2,412,297...2,415,132 		JBrowse link
G Bdnf brain derived neurotrophic factor no_association ISO protein:decreased expression:substantia nigra pars compacta:
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10208589 PMID:16565926 PMID:19276553 RGD:10059346 RGD:8657025 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978 		JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chrNW_004955480:8,273,887...8,304,127
Ensembl chrNW_004955480:8,271,165...8,304,548 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738 		JBrowse link
G Cast calpastatin ISO protein:decreased expression:substantia nigra, dopaminergic neuron
DNA:SNP:intron: (rs1559085) (human)		 RGD PMID:10722997 PMID:20127884 RGD:5509800 RGD:5683320 NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169 		JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930 RGD:1626086 NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830 		JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955488:4,984,140...5,288,530
Ensembl chrNW_004955488:4,984,159...5,287,718 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159062 PMID:25758665 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149 		JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human) RGD PMID:3502064 RGD:5508835 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Cripto cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chrNW_004955420:25,476,975...25,479,969
Ensembl chrNW_004955420:25,477,122...25,479,969 		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:14991826 PMID:19276553 RGD:1358583 RGD:5129515 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247 		JBrowse link
G Dbn1 drebrin 1 treatment ISO levodopainduced; protein:increased expression:striatum: RGD PMID:23241013 RGD:10398811 NCBI chrNW_004955408:29,695,442...29,705,417
Ensembl chrNW_004955408:29,696,266...29,705,416 		JBrowse link
G Ddc dopa decarboxylase ISO protein:altered expression:arcuate nucleus ((rat)
CTD Direct Evidence: therapeutic
human gene in a rat model		 RGD
CTD		 PMID:2969953 PMID:9853519 PMID:11445284 PMID:12703659 PMID:15935614 RGD:4139893 RGD:5129121 RGD:5129231 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911 		JBrowse link
G Ddit4 DNA damage inducible transcript 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chrNW_004955437:19,322,407...19,324,562
Ensembl chrNW_004955437:19,322,407...19,324,562 		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 chrNW_004955452:1,186,733...1,195,691
Ensembl chrNW_004955452:1,186,733...1,240,087 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chrNW_004955462:13,578,638...13,644,834
Ensembl chrNW_004955462:13,584,724...13,642,968 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chrNW_004955420:13,068,289...13,273,805
Ensembl chrNW_004955420:13,068,289...13,273,805 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		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 chrNW_004955579:240,058...298,592
Ensembl chrNW_004955579:240,058...298,592 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25639775 RGD:10450521 NCBI chrNW_004955423:25,269,459...25,382,664
Ensembl chrNW_004955423:25,269,466...25,377,641 		JBrowse link
G Dnm1l dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28215578 NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955486:2,161,927...2,185,230
Ensembl chrNW_004955486:2,161,913...2,174,013 		JBrowse link
G Drd1 dopamine receptor D1 treatment ISO protein:decreased expression:striatum (rat)
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:8558425 PMID:16365282 PMID:23041629 RGD:7248455 RGD:7248595 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: therapeutic
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
protein:increased expression:striatum (rat)		 CTD
MouseDO
RGD		 PMID:8558425 PMID:18289173 RGD:2311585 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Drd3 dopamine receptor D3 severity ISO mRNA:decreased expression:blood, lymphocyte
protein:increased expression:blood, lymphocyte		 RGD PMID:8618685 PMID:10495037 RGD:5686418 RGD:5686419 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:blood, lymphocyte RGD PMID:10495037 RGD:5686418 NCBI chrNW_004955514:5,450,495...5,452,282 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Egf epidermal growth factor disease_progression ISO RGD PMID:21520231 RGD:10059679 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:15567511 RGD:10395348 NCBI chrNW_004955441:4,908,318...4,944,343 JBrowse link
G En1 engrailed homeobox 1 ISO DNA:SNP:enhancer: (rs1438852) (human) RGD
MouseDO		 PMID:19345444 RGD:5687197 NCBI chrNW_004955459:10,839,581...10,844,198 JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769 		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 chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665 		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 chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:19727138 RGD:10400901 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379 		JBrowse link
G Esr2 estrogen receptor 2 onset ISO DNA:polymorphism: :1730A>G(human) RGD PMID:15219649 RGD:5508776 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		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 chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:neurones of the substantia nigra pars:
protein:increased expression:substantia nigra pars compacta, striatum (rat)		 RGD PMID:11054182 PMID:17959308 RGD:12903948 RGD:2290172 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar NCBI chrNW_004955405:41,429,421...41,449,670
Ensembl chrNW_004955405:41,433,082...41,453,909 		JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955563:1,587,471...1,596,707
Ensembl chrNW_004955563:1,587,396...1,596,063 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO RGD PMID:23888906 RGD:13208826 NCBI chrNW_004955412:26,477,995...26,530,686
Ensembl chrNW_004955412:26,477,301...26,531,354 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chrNW_004955471:8,824,901...8,832,836
Ensembl chrNW_004955471:8,822,965...8,832,884 		JBrowse link
G Gak cyclin G associated kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711177 NCBI chrNW_004955514:391,305...434,198
Ensembl chrNW_004955514:387,179...434,077 		JBrowse link
G Gba1 glucosylceramidase beta 1 onset
no_association		 ISO DNA:missense mutation:cds:p.N370S (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)		 RGD
ClinVar		 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... RGD:5508427 RGD:5508429 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO mRNA:increased expression:striatum: RGD PMID:22436046 PMID:24373993 RGD:12738227 RGD:12738228 NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic
mRNA:increased expression:putamen		 CTD
RGD		 PMID:11031079 PMID:16324109 PMID:16644101 RGD:6218968 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268 		JBrowse link
G Gjc2 gap junction protein gamma 2 treatment ISO RGD PMID:21561882 RGD:13208520 NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chrNW_004955479:6,061,424...6,080,129
Ensembl chrNW_004955479:6,057,276...6,080,994 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15824117 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412 		JBrowse link
G Grk3 G protein-coupled receptor kinase 3 ISO protein:decreased expression:caudate putamen (rat) RGD PMID:17996024 RGD:5685370 NCBI chrNW_004955442:19,640,145...19,785,803
Ensembl chrNW_004955442:19,640,145...19,785,803 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO protein: decreased expression: brain
DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293		 RGD PMID:17125886 PMID:17996024 PMID:21184589 RGD:5685370 RGD:5688382 RGD:5688384 NCBI chrNW_004955551:43,918...255,118
Ensembl chrNW_004955551:44,156...254,534 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO human gene in rat model
protein: decreased expression: brain		 RGD PMID:17996024 PMID:22090514 RGD:5684916 RGD:5685370 NCBI chrNW_004955408:29,665,534...29,684,225
Ensembl chrNW_004955408:29,665,260...29,684,207 		JBrowse link
G Grn granulin precursor no_association ISO protein:decreased expression:serum
DNA:SNP:3' utr:*78C>T (rs5848) (human)		 RGD PMID:19473366 PMID:23398167 RGD:10401642 RGD:10401644 NCBI chrNW_004955451:17,368,600...17,371,981
Ensembl chrNW_004955451:17,368,428...17,372,377 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:23094836 RGD:10045553 NCBI chrNW_004955427:19,489,972...19,671,137
Ensembl chrNW_004955427:19,495,422...19,671,137 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:del: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9802272 PMID:17190945 PMID:23721876 RGD:1358669 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428 		JBrowse link
G Hbb hemoglobin subunit beta ISO protein:decreased expression:brain, mitochondrion RGD PMID:24333691 RGD:10449046 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO mRNA:increased expression:neuron: RGD PMID:19320057 RGD:9693679 NCBI chrNW_004955545:1,730,940...1,744,439
Ensembl chrNW_004955545:1,730,940...1,742,065 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16824219 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16791285 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:18184918 RGD:5508459 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:17985251 PMID:19773194 RGD:5509775 RGD:5509778 NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO protein:decreased expression:midbrain (rat) RGD PMID:24296154 PMID:24852355 RGD:10402545 RGD:10402753 NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:decreased expression:striatum (rat) RGD PMID:22186119 RGD:5686884 NCBI chrNW_004955408:4,379,825...4,422,710
Ensembl chrNW_004955408:4,379,825...4,423,381 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: brain
protein: decreased expression		 RGD PMID:17241115 PMID:18704197 PMID:20697033 RGD:6218982 RGD:6480203 RGD:6480228 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 disease_progression ISO DNA:mutations:multiple:
DNA:mutation:cds:A>T476(human)
protein:decreased expression:brain
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16565515 PMID:18219256 PMID:19657588 PMID:20817635 RGD:6784528 RGD:6784529 RGD:6784530 RGD:6784531 NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:23943523 RGD:10402846 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508280 RGD:5683633 NCBI chrNW_004955446:4,913,181...4,917,726
Ensembl chrNW_004955446:4,913,884...4,915,146 		JBrowse link
G Htra2 HtrA serine peptidase 2 no_association ISO DNA:missense mutations:cds:p.A141S, p.G399S (human)
DNA:missense mutation:cds:p.R404W (human)
DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)
DNA:missense mutation:cds:p.P143A (human)
DNA:missense mutation:cds:p.S276C (mouse)		 RGD PMID:14534547 PMID:15509788 PMID:15961413 PMID:18364387 PMID:18401856 More... RGD:5688367 RGD:5688381 RGD:5688392 RGD:5688393 RGD:5688394 RGD:5688395 RGD:5688714 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		JBrowse link
G Htt huntingtin ISO RGD PMID:26192120 RGD:13452383 NCBI chrNW_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO protein: altered activity
mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19276553 PMID:19703168 RGD:5129515 RGD:5686429 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19276553 RGD:5129515 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:12070246 PMID:23159314 RGD:1358742 RGD:7175549 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Kcnj4 potassium inwardly rectifying channel subfamily J member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chrNW_004955413:24,605,887...24,634,524
Ensembl chrNW_004955413:24,605,887...24,634,524 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955408:34,223,523...34,366,191
Ensembl chrNW_004955408:34,109,334...34,368,114 		JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chrNW_004955558:1,501,806...1,509,461
Ensembl chrNW_004955558:1,502,881...1,509,558 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lep leptin treatment ISO rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G LOC102010850 cytochrome P450 1A1 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.I462V (human)
DNA:polymorphisms (human)		 RGD PMID:8872868 PMID:11484167 PMID:11793160 RGD:5147678 RGD:5147679 RGD:5147681 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G LOC102019320 mamu class II histocompatibility antigen, DR alpha chain onset ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs3129882) (human)		 CTD
RGD		 PMID:20711177 RGD:5490158 NCBI chrNW_004955437:1,109,735...1,114,742
Ensembl chrNW_004955437:1,109,713...1,114,802 		JBrowse link
G LOC102021956 alpha-2-macroglobulin onset ISO DNA:polymorphism: :p.I1000V (human) RGD PMID:12133586 RGD:10046014 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529 		JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778 		JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16510128 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.G2019S (human)
ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease
DNA:missense mutation:cds:p.R1398H (human)		 RGD
ClinVar		 PMID:16172858 PMID:16633828 PMID:17019612 PMID:17659642 PMID:18688798 More... RGD:5508406 RGD:5508409 NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Mag myelin associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955468:4,584,068...4,598,772
Ensembl chrNW_004955468:4,584,162...4,598,914 		JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17449559 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317 		JBrowse link
G Maob monoamine oxidase B ISO protein:increased activity:striatum (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9129714 PMID:17417741 PMID:21318773 RGD:1358484 RGD:2316771 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593 		JBrowse link
G Map2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21815648 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152 		JBrowse link
G Mapt microtubule associated protein tau susceptibility ISO DNA:SNP:intron: (rs8070723) (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease		 RGD
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158107 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO MouseDO NCBI chrNW_004955415:2,627,047...2,644,602
Ensembl chrNW_004955415:2,626,926...2,644,610 		JBrowse link
G Mta1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27044752 NCBI chrNW_004955538:3,630,383...3,671,005
Ensembl chrNW_004955538:3,634,341...3,671,005 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30726997 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :1049A>G (human) RGD PMID:21070756 RGD:5508183 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645 		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 chrNW_004955413:6,561,323...6,565,770 JBrowse link
G Ncapg2 non-SMC condensin II complex subunit G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955579:896,507...955,515
Ensembl chrNW_004955579:895,249...955,517 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO RGD PMID:26605748 RGD:13504667 NCBI chrNW_004955524:2,426,604...2,433,682
Ensembl chrNW_004955524:2,426,604...2,433,679 		JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:26605748 RGD:13504667 NCBI chrNW_004955485:9,607,781...9,613,123
Ensembl chrNW_004955485:9,607,781...9,613,151 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 onset ISO protein:increased oxidation:brain, mitochondrion (mouse) RGD PMID:21196577 RGD:6484690 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO RGD PMID:21383081 RGD:6484691 NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 susceptibility ISO DNA:polymorphism: :p.A29V RGD PMID:9570948 RGD:2302386 NCBI chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chrNW_004955555:1,959,702...1,985,679 JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chrNW_004955409:36,173,533...36,182,444
Ensembl chrNW_004955409:36,173,533...36,182,444 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RNA, protein:increased expression:neutrophil
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11020342 PMID:11809160 PMID:26383258 RGD:1358519 RGD:5132632 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:striatum (mouse) RGD PMID:21970803 RGD:5509573 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nox1 NADPH oxidase 1 ameliorates ISO RGD PMID:23077033 RGD:329961565 NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17188257 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 susceptibility ISO DNA:deletion:promoter: (human) RGD PMID:18314446 RGD:11073691 NCBI chrNW_004955465:10,186,928...10,200,098
Ensembl chrNW_004955465:10,186,928...10,200,237 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 treatment ISO compared to wild-type and untreated RGD PMID:29530712 RGD:40924655 NCBI chrNW_004955547:2,404,532...2,426,882
Ensembl chrNW_004955547:2,404,532...2,431,050 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive | ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:23066323 PMID:25741868 PMID:28492532 NCBI chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731 		JBrowse link
G Ntsr1 neurotensin receptor 1 ISO RGD PMID:7700529 RGD:9743906 NCBI chrNW_004955528:1,348,616...1,394,798
Ensembl chrNW_004955528:1,348,555...1,394,868 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:substantia nigra, neuron RGD PMID:15841414 RGD:8657142 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793 		JBrowse link
G Optn optineurin ISO protein:increased expression:substantia nigra (rat) RGD PMID:27473339 RGD:13432580 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		JBrowse link
G Orc6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chrNW_004955448:240,518...248,379
Ensembl chrNW_004955448:240,697...247,986 		JBrowse link
G Park7 Parkinsonism associated deglycase onset ISO DNA:missense mutation, deletion: :L166P
ClinVar Annotator: match by term: Parkinson Disease, Recessive		 RGD
ClinVar		 PMID:12851414 PMID:12953260 PMID:20981092 PMID:26467025 PMID:27884173 More... RGD:1601073 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 no_association
susceptibility		 ISO DNA:snps:multiple (human)
DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)		 RGD PMID:17362997 PMID:21767974 RGD:5510021 RGD:5510024 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615 		JBrowse link
G Penk proenkephalin ISO mRNA:increased expression:striatum: RGD PMID:11501038 RGD:10003114 NCBI chrNW_004955454:15,425,712...15,426,685
Ensembl chrNW_004955454:15,426,017...15,426,685 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: intron: rs11155313 RGD PMID:19429005 RGD:6483095 NCBI chrNW_004955436:16,607,279...16,690,412
Ensembl chrNW_004955436:16,619,552...16,694,053 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		JBrowse link
G Pitx3 paired like homeodomain 3 ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 RGD
MouseDO		 PMID:18573342 RGD:11535079 NCBI chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292 		JBrowse link
G Pla2g6 phospholipase A2 group VI no_association
onset		 ISO DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)
DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)		 RGD PMID:20938027 PMID:21368765 RGD:6482733 RGD:6482734 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit onset ISO DNA:missense mutations:exons:p.R853W,p.G737R(human)
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human)
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :		 RGD PMID:15351195 PMID:16634032 PMID:23865558 RGD:8694175 RGD:8694201 RGD:8694203 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset ISO DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human)
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:21376232 PMID:21595954 PMID:30236862 RGD:6484270 RGD:6484271 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Ppp1r9b protein phosphatase 1 regulatory subunit 9B ISO protein:altered localization:striate nucleus (rat) RGD PMID:18372251 RGD:10043801 NCBI chrNW_004955451:11,516,548...11,530,263
Ensembl chrNW_004955451:11,516,548...11,530,830 		JBrowse link
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO protein:decreased tyrosine phosphorylation:brain (human) RGD PMID:24395787 RGD:8693390 NCBI chrNW_004955408:5,435,117...5,460,361
Ensembl chrNW_004955408:5,433,268...5,460,361 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO DNA:deletions:exons: (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
protein:increased tyrosine-phosphorylation:substantia nigra, striatum, 		RGD
CTD		 PMID:9560156 PMID:12588799 PMID:12629236 PMID:15198987 PMID:15882845 More... RGD:10413859 RGD:10450518 RGD:10450521 RGD:13432207 RGD:13432563 RGD:13432567 RGD:737763 RGD:8693409 RGD:9693725 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment ISO human gene in a rat model RGD PMID:23691265 RGD:401959749 NCBI chrNW_004955445:8,624,228...8,663,385
Ensembl chrNW_004955445:8,623,430...8,677,658 		JBrowse link
G Ptn pleiotrophin treatment ISO RGD PMID:19615368 RGD:10044022 NCBI chrNW_004955494:5,580,264...5,681,848
Ensembl chrNW_004955494:5,580,422...5,684,190 		JBrowse link
G Rpl14 ribosomal protein L14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chrNW_004955420:29,430,757...29,434,669
Ensembl chrNW_004955420:29,426,694...29,435,126 		JBrowse link
G Rpl23a ribosomal protein L23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chrNW_004955481:4,433,367...4,437,838
Ensembl chrNW_004955481:4,433,417...4,437,754 		JBrowse link
G Rpl6 ribosomal protein L6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chrNW_004955482:8,917,777...8,923,150 JBrowse link
G Rps8 ribosomal protein S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chrNW_004955464:13,443,580...13,445,391
Ensembl chrNW_004955464:13,443,631...13,445,389 		JBrowse link
G Rrn3 RRN3 homolog, RNA polymerase I transcription factor ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955442:129,106...166,258
Ensembl chrNW_004955442:129,106...166,258 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21402140 PMID:21725169 RGD:5508763 RGD:5508766 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO protein:decreased expression:substantia nigra, neuron RGD PMID:26605748 RGD:13504667 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		JBrowse link
G Septin14 septin 14 susceptibility ISO DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) RGD PMID:27115672 RGD:13504669 NCBI chrNW_004955456:8,066,570...8,102,318
Ensembl chrNW_004955456:8,066,832...8,103,049 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chrNW_004955451:4,505,318...4,530,387 JBrowse link
G Serpinf1 serpin family F member 1 severity ISO protein:increased expression:serum, extracellular exosome (human) RGD PMID:31593110 RGD:27226691 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 resistance ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:putamen, caudate nucleus, striatum (human)
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
mRNA:decreased expression:substantia nigra (rat)		 RGD
CTD		 PMID:11463816 PMID:16112329 PMID:16269145 PMID:16339215 PMID:16421508 More... RGD:5129143 RGD:5131086 RGD:5131163 RGD:5131165 RGD:5131167 NCBI chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25149416 NCBI chrNW_004955520:3,631,192...3,641,595 JBrowse link
G Slc38a2 solute carrier family 38 member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:35728354 NCBI chrNW_004955500:5,517,323...5,530,055
Ensembl chrNW_004955500:5,516,039...5,531,758 		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 chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:23427326 PMID:23457019 PMID:24047453 PMID:24752924 PMID:24936070 More... NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		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 chrNW_004955521:410,270...548,691
Ensembl chrNW_004955521:482,433...548,751 		JBrowse link
G Sncb synuclein beta onset ISO DNA:SNP: :rs1352303(human)
protein:increased expression:hippocampus		 RGD PMID:10557341 PMID:17556099 RGD:6478793 RGD:6480095 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Sncg synuclein gamma ISO protein:increased expression:hippocampus RGD PMID:10557341 RGD:6480095 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:15824117 PMID:16353238 PMID:21318773 RGD:8655933 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11161607 PMID:17188257 PMID:18353766 PMID:25279756 RGD:13464352 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Spr sepiapterin reductase ISO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chrNW_004955424:12,711,064...12,716,000
Ensembl chrNW_004955424:12,711,064...12,716,000 		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 chrNW_004955442:14,478,350...14,498,152
Ensembl chrNW_004955442:14,482,154...14,497,639 		JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25639775 RGD:10450521 NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795 		JBrowse link
G Taldo1 transaldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chrNW_004955476:11,356,601...11,364,573
Ensembl chrNW_004955476:11,356,603...11,364,259 		JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:mutation:cds:p.A382T (human) RGD PMID:20551689 PMID:21667065 RGD:5687172 RGD:5687183 NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		JBrowse link
G Tcn2 transcobalamin 2 ISO RGD PMID:20027219 RGD:11060125 NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613 		JBrowse link
G Tfam transcription factor A, mitochondrial no_association
susceptibility		 ISO DNA:missense mutation:exon:p.S12T (rs1937) (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:SNP:intron:IVS4+113A>G (rs2306604) (human)		 RGD
MouseDO		 PMID:17537576 PMID:18248889 PMID:19925850 RGD:14389730 RGD:6771184 RGD:6771185 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782 		JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:midbrain, neuron (rat)
protein:decreased expression:striatum (human)
human gene in a rat model
CTD Direct Evidence: marker/mechanism
protein:decreased expression:substantia nigra (mouse)		 RGD
CTD		 PMID:2573072 PMID:9853519 PMID:15857400 PMID:21323909 PMID:21376343 More... RGD:2289955 RGD:5128607 RGD:5128616 RGD:5129120 RGD:5129121 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
G Tmem230 transmembrane protein 230 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270108 NCBI chrNW_004955415:15,733,134...15,743,078
Ensembl chrNW_004955415:15,733,134...15,742,909 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) RGD PMID:19780901 RGD:5130931 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		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 chrNW_004955420:12,302,463...12,337,976
Ensembl chrNW_004955420:12,300,572...12,338,058 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868 NCBI chrNW_004955406:15,007,248...15,512,219
Ensembl chrNW_004955406:15,088,843...15,282,937 		JBrowse link
G Trpm2 transient receptor potential cation channel subfamily M member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27957685 NCBI chrNW_004955407:41,062,217...41,110,500
Ensembl chrNW_004955407:41,057,941...41,110,668 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462 		JBrowse link
G Vdac1 voltage dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chrNW_004955408:5,260,444...5,275,972
Ensembl chrNW_004955408:5,260,353...5,275,990 		JBrowse link
G Vdr vitamin D receptor onset ISO DNA:polymorphisms: :rs4334089, rs2853559(human) RGD PMID:21309754 RGD:13217419 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19476518 RGD:5685606 NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26942284 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		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 chrNW_004955405:1,043,661...1,092,862
Ensembl chrNW_004955405:1,043,656...1,095,321 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 OMIM
ClinVar		 PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		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 OMIM
ClinVar		 PMID:18358451 PMID:18923002 PMID:19133664 PMID:19250854 PMID:19279319 More... NCBI chrNW_004955453:3,201,593...3,301,541
Ensembl chrNW_004955453:3,203,358...3,301,547 		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 chrNW_004955424:11,259,288...11,262,413
Ensembl chrNW_004955424:11,259,432...11,262,269 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to OMIM
ClinVar		 PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 More... NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		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 chrNW_004955424:11,236,415...11,255,801
Ensembl chrNW_004955424:11,236,836...11,259,570 		JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET OMIM
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chrNW_004955403:45,828,247...45,867,309
Ensembl chrNW_004955403:45,827,942...45,867,309 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chrNW_004955405:41,429,421...41,449,670
Ensembl chrNW_004955405:41,433,082...41,453,909 		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 chrNW_004955448:254,280...287,451
Ensembl chrNW_004955448:255,119...287,712 		JBrowse link
G Orc6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chrNW_004955448:240,518...248,379
Ensembl chrNW_004955448:240,697...247,986 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease 17 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chrNW_004955448:207,582...240,264
Ensembl chrNW_004955448:204,991...240,160 		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 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
ClinVar		 PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 More... NCBI chrNW_004955423:25,269,459...25,382,664
Ensembl chrNW_004955423:25,269,466...25,377,641 		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 chrNW_004955545:424,997...519,031
Ensembl chrNW_004955545:430,245...517,790 		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 chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		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 chrNW_004955439:18,152,719...18,664,026
Ensembl chrNW_004955439:18,153,227...18,663,780 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Podxl podocalyxin like ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 ClinVar PMID:26864383 NCBI chrNW_004955410:36,191,797...36,239,970 JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase 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 OMIM
ClinVar		 PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 More... NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		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 chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		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 chrNW_004955407:32,076,670...32,089,307
Ensembl chrNW_004955407:32,076,507...32,089,307 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:34,002,656...34,042,524 JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,016,289...33,055,495
Ensembl chrNW_004955407:33,015,545...33,055,495 		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 chrNW_004955407:32,928,655...32,931,331
Ensembl chrNW_004955407:32,928,663...32,929,814 		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 chrNW_004955407:33,007,257...33,014,600
Ensembl chrNW_004955407:33,007,257...33,015,039 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,229,108...32,249,097 JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,934,954...32,043,827
Ensembl chrNW_004955407:31,934,965...32,044,228 		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 chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863 		JBrowse link
G Hunk hormonally up-regulated Neu-associated kinase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,439,045...31,555,542
Ensembl chrNW_004955407:31,439,124...31,552,732 		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 chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651 		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 chrNW_004955407:32,601,862...32,637,852
Ensembl chrNW_004955407:32,601,826...32,638,564 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,641,097...32,659,360
Ensembl chrNW_004955407:32,640,622...32,663,259 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675 		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 chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356 		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 chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,799,537...31,813,897
Ensembl chrNW_004955407:31,798,924...31,813,862 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,833,469...31,847,043 JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,471,501...32,480,358
Ensembl chrNW_004955407:32,471,516...32,479,079 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,432,888...32,436,209
Ensembl chrNW_004955407:32,433,849...32,434,923 		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 chrNW_004955407:32,178,837...32,210,470
Ensembl chrNW_004955407:32,179,879...32,210,352 		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 chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,873,427...33,951,762
Ensembl chrNW_004955407:33,873,383...33,951,498 		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 chrNW_004955407:31,269,673...31,303,823
Ensembl chrNW_004955407:31,270,035...31,303,823 		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 chrNW_004955407:33,460,238...33,511,889
Ensembl chrNW_004955407:33,494,816...33,511,968 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,740,552...33,750,974
Ensembl chrNW_004955407:33,740,552...33,750,653 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		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 chrNW_004955407:32,974,656...33,007,073
Ensembl chrNW_004955407:32,974,725...33,006,297 		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 chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 OMIM
ClinVar		 PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 More... NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:30,804,769...31,178,420
Ensembl chrNW_004955407:30,803,653...30,942,854 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,876,380...32,916,036
Ensembl chrNW_004955407:32,874,905...32,916,036 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,849,103...31,915,457
Ensembl chrNW_004955407:31,848,012...31,915,362 		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 chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384 		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 OMIM
ClinVar		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488 		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 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 OMIM
ClinVar		 PMID:25741868 PMID:26942284 PMID:28492532 NCBI chrNW_004955450:13,016,933...13,178,797
Ensembl chrNW_004955450:13,016,950...13,174,990 		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 chrNW_004955570:1,429,316...1,454,820
Ensembl chrNW_004955570:1,429,316...1,455,562 		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 ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 OMIM
ClinVar		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		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 ClinVar
OMIM		 PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462 		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 chrNW_004955452:6,844...13,868 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 chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872 		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 chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226 		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 chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488 		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 chrNW_004955452:2,765,844...2,771,695
Ensembl chrNW_004955452:2,769,752...2,772,534 		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 chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522 		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 chrNW_004955452:1,044,696...1,046,657
Ensembl chrNW_004955452:1,043,459...1,046,669 		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 chrNW_004955452:34,454...168,514
Ensembl chrNW_004955452:30,589...169,693 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565 		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 chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042 		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 chrNW_004955452:2,190,177...2,194,453 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 chrNW_004955452:1,186,733...1,195,691
Ensembl chrNW_004955452:1,186,733...1,240,087 		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 chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489 		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 chrNW_004955452:1,328,103...1,625,341
Ensembl chrNW_004955452:1,328,345...1,625,934 		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 chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951 		JBrowse link
G Epha8 EPH receptor A8 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004955452:2,702,277...2,729,161
Ensembl chrNW_004955452:2,701,803...2,729,277 		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 chrNW_004955452:1,102,342...1,104,346
Ensembl chrNW_004955452:1,102,362...1,103,383 		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 chrNW_004955452:1,271,133...1,308,167
Ensembl chrNW_004955452:1,270,658...1,308,167 		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 chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		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 chrNW_004955452:323,641...338,312 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 chrNW_004955527:294,950...332,716
Ensembl chrNW_004955527:294,488...333,823 		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 chrNW_004955452:1,197,839...1,239,209 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 chrNW_004955452:2,031,868...2,057,264 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 chrNW_004955452:248,892...289,711
Ensembl chrNW_004955452:248,974...289,480 		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 chrNW_004955527:12,547...18,906
Ensembl chrNW_004955527:12,547...18,906 		JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chrNW_004955455:4,660,847...4,664,323
Ensembl chrNW_004955455:4,660,904...4,664,323 		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 chrNW_004955452:1,059,168...1,066,096
Ensembl chrNW_004955452:1,058,930...1,066,096 		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 chrNW_004955452:316,867...319,883
Ensembl chrNW_004955452:308,573...319,989 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004955452:488,295...516,162
Ensembl chrNW_004955452:487,994...516,217 		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 chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO 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
ClinVar		 PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		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 chrNW_004955452:771,031...783,323
Ensembl chrNW_004955452:770,952...783,375 		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 chrNW_004955452:738,133...743,718
Ensembl chrNW_004955452:736,600...743,806 		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 chrNW_004955452:522,314...526,095
Ensembl chrNW_004955452:520,361...525,846 		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 chrNW_004955452:755,738...765,304
Ensembl chrNW_004955452:755,478...763,571 		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 chrNW_004955452:662,281...721,507
Ensembl chrNW_004955452:710,271...723,142 		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 chrNW_004955452:1,886,557...1,950,942
Ensembl chrNW_004955452:1,886,557...1,933,977 		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 chrNW_004955452:433,413...450,261 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 chrNW_004955452:1,240,621...1,252,088
Ensembl chrNW_004955452:1,240,148...1,248,569 		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 chrNW_004955452:17,459...22,259
Ensembl chrNW_004955452:16,770...26,189 		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 chrNW_004955452:338,779...425,901
Ensembl chrNW_004955452:338,779...414,201 		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 chrNW_004955527:57,335...185,727
Ensembl chrNW_004955527:57,335...185,727 		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 chrNW_004955452:790,950...799,378
Ensembl chrNW_004955452:790,950...799,378 		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 chrNW_004955452:1,959,396...2,031,829
Ensembl chrNW_004955452:1,959,396...2,031,829 		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 chrNW_004955452:874,819...938,134
Ensembl chrNW_004955452:882,051...938,333 		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 chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989 		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 chrNW_004955452:2,597,020...2,672,496
Ensembl chrNW_004955452:2,632,597...2,672,610 		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 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7 OMIM
ClinVar		 PMID:1818649 PMID:9536098 PMID:12446870 PMID:12891675 PMID:12891685 More... NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		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 ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition OMIM
ClinVar		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		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 chrNW_004955496:8,136,279...8,149,496 JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chrNW_004955494:3,722,359...3,730,217
Ensembl chrNW_004955494:3,722,519...3,728,622 		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 chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375 		JBrowse link
Parkinson's Disease, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Parkinson disease, X-linked dominant ClinVar PMID:26399558 NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		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 ISO RGD PMID:22634324 RGD:9588554 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO RGD PMID:15857625 RGD:1598645 NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO RGD PMID:15857625 RGD:1598645 NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132 		JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:16888218 RGD:2325295 NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045800 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:11535810 RGD:13503334 NCBI chrNW_004955405:34,619,780...34,693,616
Ensembl chrNW_004955405:34,623,267...34,693,677 		JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:21255222 RGD:5148006 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23046578 NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15260953 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
G Bad BCL2 associated agonist of cell death ISO RGD PMID:23251488 RGD:10053712 NCBI chrNW_004955422:20,795,585...20,809,039
Ensembl chrNW_004955422:20,795,676...20,809,245 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:16018990 RGD:8657066 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Becn1 beclin 1 treatment ISO RGD PMID:19864570 PMID:25424835 RGD:11558014 RGD:6483312 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:27016191 PMID:28338241 PMID:28881616 RGD:13503337 RGD:13503338 RGD:13503339 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:26612350 RGD:13503344 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO RGD PMID:19414037 RGD:2314672 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320 		JBrowse link
G Comt catechol-O-methyltransferase ISO RGD PMID:15698633 RGD:2289785 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:25741868 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751 		JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:21291297 RGD:5131508 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:19368990 RGD:4891964 NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:19368990 RGD:4891964 NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29525180 PMID:32461654 NCBI chrNW_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140 		JBrowse link
G Ddc dopa decarboxylase ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD		 PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770 RGD:6907448 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12535962 RGD:1358605 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:striatum RGD PMID:15857400 RGD:2289955 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G En1 engrailed homeobox 1 ISO RGD PMID:17015829 RGD:5687199 NCBI chrNW_004955459:10,839,581...10,844,198 JBrowse link
G En2 engrailed homeobox 2 ISO RGD PMID:17015829 RGD:5687199 NCBI chrNW_004955491:8,422,295...8,427,038 JBrowse link
G Eno2 enolase 2 ISO RGD PMID:17532790 RGD:2293747 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:21420980 RGD:8553241 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:27228974 RGD:13801017 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO mRNA, protein:increased expression:brain RGD PMID:17877381 RGD:2302074 NCBI chrNW_004955596:580,106...606,210
Ensembl chrNW_004955596:580,106...603,255 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29886133 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783 		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		 RGD
ClinVar		 PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 More... RGD:5508426 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO RGD PMID:12451130 PMID:15684695 PMID:16708545 PMID:23831692 PMID:25592335 RGD:1580026 RGD:329970292 RGD:401700381 RGD:401700385 RGD:628489 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO protein:decreased expression:brain
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:9266731 PMID:12213621 PMID:16018990 PMID:21865882 PMID:22186119 RGD:5686884 RGD:6218962 RGD:8657066 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO mRNA:altered expression:brain RGD PMID:12210101 PMID:21865882 RGD:6218962 RGD:6218972 NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853 		JBrowse link
G Gfra2 GDNF family receptor alpha 2 ISO mRNA:decreased expression:brain RGD PMID:12210101 RGD:6218972 NCBI chrNW_004955403:45,235,161...45,324,825
Ensembl chrNW_004955403:45,235,119...45,324,946 		JBrowse link
G Gja1 gap junction protein alpha 1 treatment ISO RGD PMID:23783886 RGD:8662444 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Gnal G protein subunit alpha L ISO RGD PMID:22539851 RGD:13513924 NCBI chrNW_004955402:1,182,515...1,249,301
Ensembl chrNW_004955402:1,181,133...1,248,616 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO RGD PMID:22546615 RGD:6771180 NCBI chrNW_004955479:7,520,537...8,279,942
Ensembl chrNW_004955479:7,520,396...8,279,755 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar NCBI chrNW_004955451:17,368,600...17,371,981
Ensembl chrNW_004955451:17,368,428...17,372,377 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO protein:decreased expression:striatum RGD PMID:18805403 RGD:10401814 NCBI chrNW_004955555:668,641...676,351
Ensembl chrNW_004955555:667,973...676,351 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:20951685 PMID:22721943 RGD:5128840 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:24169105 RGD:10755712 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO protein:decreased expression:striatum RGD PMID:21542017 RGD:6784518 NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26558463 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:hypothalamus RGD PMID:17520785 RGD:1626658 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO mRNA, protein:increased expression:striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chrNW_004955413:17,364,447...17,371,255
Ensembl chrNW_004955413:17,364,213...17,371,255 		JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO mRNA:decreased expression:striatum RGD PMID:18374908 RGD:5147675 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20729864 PMID:23046578 PMID:25017139 PMID:26558463 RGD:5508414 NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO RGD PMID:16529858 RGD:1581410 NCBI chrNW_004955454:15,025,967...15,111,142
Ensembl chrNW_004955454:15,035,979...15,111,142 		JBrowse link
G Manf mesencephalic astrocyte derived neurotrophic factor ISO RGD PMID:19641128 RGD:2325813 NCBI chrNW_004955532:3,075,195...3,077,505
Ensembl chrNW_004955532:3,075,110...3,079,116 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO RGD PMID:20581854 RGD:401965387 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784 		JBrowse link
G Mapt microtubule associated protein tau treatment ISO ClinVar Annotator: match by term: Parkinsonian disorder RGD
ClinVar		 PMID:27228974 RGD:13801017 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:15075439 RGD:13204850 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:20089925 RGD:10040992 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO RGD PMID:20403401 RGD:13824972 NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO RGD PMID:18534259 RGD:2302392 NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444 		JBrowse link
G Ngf nerve growth factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:19694610 PMID:20581854 RGD:401965387 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059 		JBrowse link
G Ngfr nerve growth factor receptor treatment ISO RGD PMID:20581854 RGD:401965387 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:23967645 RGD:7257596 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 treatment ISO RGD PMID:31408200 RGD:124713575 NCBI chrNW_004955449:16,928,780...16,944,536
Ensembl chrNW_004955449:16,937,794...16,945,731 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 treatment ISO RGD PMID:20581854 RGD:401965387 NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Juvenile parkinsonism ClinVar PMID:25741868 NCBI chrNW_004955439:18,152,719...18,664,026
Ensembl chrNW_004955439:18,153,227...18,663,780 		JBrowse link
G Park7 Parkinsonism associated deglycase treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain		 RGD
CTD		 PMID:16860563 PMID:18373560 PMID:22041943 PMID:22710069 PMID:23046578 More... RGD:13210569 RGD:13462067 RGD:13463452 RGD:13463458 RGD:1601076 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17640816 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615 		JBrowse link
G Pde1b phosphodiesterase 1B ISO RGD PMID:15305867 RGD:2312524 NCBI chrNW_004955458:1,791,090...1,819,261
Ensembl chrNW_004955458:1,791,090...1,821,813 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Parkinsonian disorder ClinVar PMID:25741868 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
G Pdyn prodynorphin disease_progression ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:striatum		 CTD
RGD		 PMID:9930741 PMID:26113400 RGD:401851054 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 More... RGD:13210569 NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		JBrowse link
G Pnoc prepronociceptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26687234 NCBI chrNW_004955403:50,735,567...50,755,892
Ensembl chrNW_004955403:50,735,390...50,755,902 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:21376232 PMID:22040668 PMID:22246294 RGD:6484262 RGD:6484267 RGD:6484271 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prkcd protein kinase C delta ISO CTD Direct Evidence: therapeutic CTD PMID:15681813 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Juvenile parkinsonism ClinVar PMID:10072423 PMID:10824074 PMID:11179010 PMID:11558785 PMID:11889248 More... NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18243799 NCBI chrNW_004955403:18,394,609...18,410,381
Ensembl chrNW_004955403:18,373,375...18,410,627 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:240179 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neostriatum RGD PMID:15306248 PMID:16781689 PMID:21376018 RGD:5508224 RGD:5688225 RGD:5688269 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		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 chrNW_004955469:6,909,627...6,913,411
Ensembl chrNW_004955469:6,907,283...6,913,411 		JBrowse link
G Ranbp2 RAN binding protein 2 severity ISO RGD PMID:22821000 RGD:9835348 NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO RGD PMID:18534259 RGD:2302392 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516 		JBrowse link
G Ret ret proto-oncogene ISO mRNA:altered expression:brain RGD PMID:12210101 RGD:6218972 NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		JBrowse link
G Rgs4 regulator of G protein signaling 4 treatment ISO RGD PMID:25844489 RGD:13524517 NCBI chrNW_004955462:13,340,812...13,347,598
Ensembl chrNW_004955462:13,338,960...13,347,610 		JBrowse link
G Rgs9 regulator of G protein signaling 9 treatment ISO protein:decreased expression:striatum RGD PMID:18160641 PMID:20561938 PMID:21963945 RGD:13524532 RGD:13524862 RGD:13524864 NCBI chrNW_004955478:4,614,730...4,683,152
Ensembl chrNW_004955478:4,614,701...4,683,167 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO RGD PMID:25030123 RGD:12859032 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon RGD PMID:17435391 RGD:9999153 NCBI chrNW_004955405:36,063,688...36,115,312
Ensembl chrNW_004955405:36,063,688...36,115,312 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220508 NCBI chrNW_004955520:3,631,192...3,641,595 JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO protein:decreased expression:striatum RGD PMID:15680936 RGD:1625663 NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:20447560 RGD:4889474 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
G Snca synuclein alpha ISO mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15147505 PMID:15499605 PMID:20464527 PMID:22319455 PMID:23046578 More... RGD:6478799 RGD:6478802 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Sncg synuclein gamma ISO RGD PMID:15147505 RGD:6478802 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO RGD PMID:16529858 RGD:1581410 NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695 		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 chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:increased expression:striatum RGD PMID:22040668 RGD:6484267 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
G Th tyrosine hydroxylase treatment
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum
Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L		 CTD
RGD		 PMID:7814018 PMID:8817341 PMID:11246459 PMID:20561938 PMID:23831692 RGD:13524532 RGD:1601634 RGD:401700381 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21831964 PMID:28338241 RGD:13503338 RGD:7247422 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:21831964 RGD:7247422 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Ucn urocortin ISO RGD PMID:21362449 RGD:5508188 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641 		JBrowse link
G Vdac1 voltage dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chrNW_004955408:5,260,444...5,275,972
Ensembl chrNW_004955408:5,260,353...5,275,990 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO RGD PMID:20302395 RGD:2325190 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:15808913 RGD:5685601 NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792 		JBrowse link
PARKINSONISM WITH POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Parkinsonism with polyneuropathy OMIM
ClinVar		 PMID:25741868 PMID:33141179 NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554 		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 chrNW_004955435:22,032,230...22,115,138
Ensembl chrNW_004955435:22,032,230...22,115,138 		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 ISO ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome OMIM
ClinVar		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... NCBI chrNW_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140 		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 chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218 		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 chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842 		JBrowse link
G Mapt microtubule associated protein tau 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 ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		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 OMIM
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Sncb synuclein beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		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 chrNW_004955451:17,368,600...17,371,981
Ensembl chrNW_004955451:17,368,428...17,372,377 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		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 chrNW_004955458:11,210,120...11,263,632
Ensembl chrNW_004955458:11,211,398...11,263,867 		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 chrNW_004955424:210,867...279,267
Ensembl chrNW_004955424:226,038...280,593 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842 		JBrowse link
G Mapt microtubule associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 RGD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158099 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Mobp myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chrNW_004955420:29,902,036...29,957,364 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chrNW_004955506:5,569,280...5,572,164
Ensembl chrNW_004955506:5,569,302...5,570,120 		JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chrNW_004955406:20,042,552...20,089,853
Ensembl chrNW_004955406:20,048,155...20,089,906 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807 		JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chrNW_004955420:21,707,618...21,728,186
Ensembl chrNW_004955420:21,707,618...21,728,186 		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 ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
secondary Parkinson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285144 NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30410011 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27317300 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chrNW_004955494:3,722,359...3,730,217
Ensembl chrNW_004955494:3,722,519...3,728,622 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:19909981 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25634431 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993444 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Rgs2 regulator of G protein signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347610 NCBI chrNW_004955406:30,261,757...30,265,389
Ensembl chrNW_004955406:30,261,757...30,266,005 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: therapeutic CTD PMID:11771942 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34774656 NCBI chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34332006 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:28595911 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782 		JBrowse link
Shy-Drager Syndrome 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: Shy-Drager syndrome ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:25548529 PMID:25594503 More... NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Mapt microtubule associated protein tau ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:25741868 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		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 chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Tbp TATA-box binding protein susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		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 ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219 		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 ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:27292112 PMID:28492532 NCBI chrNW_004955484:3,451,187...3,557,471
Ensembl chrNW_004955484:3,451,016...3,557,824 		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 chrNW_004955559:1,012,634...1,047,051
Ensembl chrNW_004955559:1,034,917...1,047,034 		JBrowse link
G Nup62 nucleoporin 62 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 OMIM
ClinVar		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chrNW_004955559:1,012,919...1,033,465
Ensembl chrNW_004955559:1,030,894...1,032,462 		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 ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004955572:1,308,491...1,365,147 JBrowse link
torsion dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1 member A ISO ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 More... NCBI chrNW_004955513:30,655...36,299
Ensembl chrNW_004955513:30,655...36,360 		JBrowse link
torsion dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Torsion dystonia 2 OMIM
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chrNW_004955452:11,142,282...11,150,798
Ensembl chrNW_004955452:11,140,373...11,154,261 		JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Torsion dystonia 4 OMIM
ClinVar		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552 		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 chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943 		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 chrNW_004955536:767,470...900,268
Ensembl chrNW_004955536:767,306...812,204 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:166,212...172,551
Ensembl chrNW_004955536:166,212...172,551 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:189,881...229,835
Ensembl chrNW_004955536:190,949...232,424 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		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 chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:542,179...595,198
Ensembl chrNW_004955536:540,836...595,198 		JBrowse link
G Pomk protein O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:380,062...384,608
Ensembl chrNW_004955536:377,517...387,978 		JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		JBrowse link
G Vdac3 voltage dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chrNW_004955536:507,393...520,399
Ensembl chrNW_004955536:505,901...520,399 		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 chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome OMIM
ClinVar		 PMID:1674730 PMID:4025396 PMID:25434005 PMID:25741868 PMID:26399558 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955422:26,992,295...27,013,100
Ensembl chrNW_004955422:26,992,295...27,013,100 		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 chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590 		JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955405:34,701,613...35,776,076
Ensembl chrNW_004955405:34,700,551...35,775,960 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21751376 RGD:10053726 NCBI chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955499:1,131,637...1,151,861
Ensembl chrNW_004955499:1,131,588...1,152,802 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Atp7b ATPase copper transporting beta treatment ISO ClinVar Annotator: match by term: Wilson disease
ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease		 OMIM
ClinVar
RGD		 PMID:626829 PMID:671269 PMID:893844 PMID:1000228 PMID:2333878 More... RGD:1554300 RGD:25671604 NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
G Bhmt betaine--homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855 		JBrowse link
G Camk2a calcium/calmodulin dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955415:4,247,307...4,307,402
Ensembl chrNW_004955415:4,247,014...4,307,458 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:5,166,451...5,170,263
Ensembl chrNW_004955431:5,166,451...5,170,263 		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 chrNW_004955424:21,962,837...22,067,745
Ensembl chrNW_004955424:21,927,079...22,050,371 		JBrowse link
G Cp ceruloplasmin treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 RGD
CTD		 PMID:7849148 PMID:15511628 PMID:18556333 PMID:22243965 PMID:23519153 RGD:14401715 RGD:1554300 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,585,518...4,633,567
Ensembl chrNW_004955431:4,585,466...4,636,017 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17303181 RGD:2292672 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,728,011...4,810,236
Ensembl chrNW_004955431:4,728,533...4,809,494 		JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:3348368 RGD:2307322 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001 		JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G Loxl2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016 		JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955415:33,138,888...33,142,663
Ensembl chrNW_004955415:33,134,474...33,143,145 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955437:18,323,852...18,377,815
Ensembl chrNW_004955437:18,323,857...18,377,815 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955511:6,125,966...6,139,098
Ensembl chrNW_004955511:6,125,966...6,139,098 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,694,654...4,727,080
Ensembl chrNW_004955431:4,694,654...4,727,080 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity ISO RGD PMID:17259995 RGD:1601345 NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:28492532 NCBI chrNW_004955431:4,809,405...5,086,647
Ensembl chrNW_004955431:4,912,954...5,060,304 		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 OMIM
ClinVar		 PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chrNW_004955449:3,428,311...3,458,723
Ensembl chrNW_004955449:3,428,888...3,458,377 		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 chrNW_004955449:3,458,683...3,534,377
Ensembl chrNW_004955449:3,490,568...3,533,584 		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 OMIM
ClinVar		 PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955565:2,006,154...2,029,921 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 chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061 		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 chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Nhsl2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:11,208,632...11,523,215
Ensembl chrNW_004955475:11,243,018...11,517,526 		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 chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            basal ganglia disease 1027
              Alopecia, Hypogonadism, Extrapyramidal Disorder 1
              Dystonia Musculorum Deformans + 20
              Gilles de la Tourette syndrome + 12
              Huntington's disease + 189
              Meige syndrome 0
              Neuhauser Eichner Opitz Syndrome 0
              Parkinsonism + 399
              Progressive Pallidal Degeneration with Retinitis Pigmentosa 0
              Spastic Paraplegia with Associated Extrapyramidal Signs 0
              Waisman syndrome 2
              Wilson disease + 46
              Woodhouse-Sakati syndrome 2
              basal ganglia calcification + 279
              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 + 156
              multiple system atrophy + 36
              neuroleptic malignant syndrome 0
              pantothenate kinase-associated neurodegeneration 59
              progressive supranuclear palsy + 10
              syndromic X-linked intellectual disability 5 2
paths to the root