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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:synucleinopathy
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Accession:DOID:0050890 term browser browse the term
Definition:A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)
Synonyms:exact_synonym: α-synucleinopathy;   a-synucleinopathies;   a-synucleinopathy;   alpha synuclein pathologies;   alpha synuclein pathology;   alpha synucleinopathies;   alpha-synucleinopathy;   synucleinopathies
 primary_id: MESH:D000080874
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
synucleinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 IEP RGD PMID:19295143 RGD:11049591 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dctn2 dynactin subunit 2 IEP RGD PMID:19295143 RGD:11049591 NCBI chr 7:70,555,953...70,571,433
Ensembl chr 7:70,556,019...70,572,614
JBrowse link
G Kif1a kinesin family member 1A IEP RGD PMID:19295143 RGD:11049591 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif1b kinesin family member 1B IEP protein:decreased expression:striatum, membrane (rat) RGD PMID:19295143 RGD:11049591 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:14684687 PMID:15576045 PMID:16337195 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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
ClinVar Annotator: match by term: Parkinson disease 9
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606693
OMIM
ClinVar
CTD
PMID:495089 PMID:12169656 PMID:16964263 PMID:17485642 PMID:18075584 PMID:18075585 PMID:18414213 PMID:19015489 PMID:19085912 PMID:19360675 PMID:19458722 PMID:19705361 PMID:20137506 PMID:20816920 PMID:20853184 PMID:21060012 PMID:21094623 PMID:21542062 PMID:21665991 PMID:21696388 PMID:21714071 PMID:21724849 PMID:22022275 PMID:22296644 PMID:22388936 PMID:22743658 PMID:22768177 PMID:22847264 PMID:22995991 PMID:23499937 PMID:24088041 PMID:24399444 PMID:25374329 PMID:25466404 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27294386 PMID:28492532 PMID:29903538 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO OMIM NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
JBrowse link
G Atxn2 ataxin 2 ISO OMIM NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma, 1 ISO ClinVar Annotator: match by OMIM:614251
ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:21907011 PMID:23408866 PMID:25368108 NCBI chr11:83,907,659...83,927,683
Ensembl chr11:83,908,109...83,926,524
JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chr16:55,152,748...55,159,352
Ensembl chr16:55,152,748...55,159,352
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Parkinson disease, late-onset
OMIM
ClinVar
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16061944 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25127542 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27865684 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30662625 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24660942 PMID:26467025 PMID:27111571 PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Parkinson disease, late-onset OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:7624338 PMID:15972314 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by OMIM:168600
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 PMID:24126627 PMID:25741868 PMID:28492532 NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G Sncaip synuclein, alpha interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD
ClinVar
PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr18:47,739,284...47,877,679
Ensembl chr18:47,739,140...47,877,676
JBrowse link
G Tbp TATA box binding protein ISO OMIM NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple system atrophy
CTD
ClinVar
PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mir96 microRNA 96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:123,638,619...123,713,469
Ensembl chr 4:123,642,210...123,713,464
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:29410950 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin onset ISO DNA:polymorphism: :p.I1000V (human) GAD
RGD
PMID:15118671, PMID:12133586 RGD:1331525, RGD:10046014 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20558393 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO
IEP
protein:increased phosphorylation:striatum:
protein:increased expression:brain:
RGD PMID:20823226, PMID:24412932, PMID:24412932 RGD:8693409, RGD:8693592, RGD:8693592 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:19474411 RGD:5509846 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adarb2 adenosine deaminase, RNA-specific, B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr17:58,098,979...58,653,137
Ensembl chr17:58,104,559...58,301,260
JBrowse link
G Adcy5 adenylate cyclase 5 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
JBrowse link
G Afdn afadin, adherens junction formation factor ISO protein:decreased expression: caudate-putamen, substantia nigra RGD PMID:23393160 RGD:13838733 NCBI chr 1:53,713,873...53,861,918
Ensembl chr 1:53,715,693...53,802,658
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:caudate nucleus,putamen,substantia nigra: RGD PMID:8666063 RGD:10047397 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Akt1 AKT serine/threonine kinase 1 no_association ISO DNA:SNPs:introns:multiple (human)
DNA:SNPs, haplotype:introns:multiple (human)
protein:altered expression:brain
RGD PMID:21741444, PMID:18395980, PMID:19800394 RGD:5509064, RGD:5509076, RGD:5509074 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ang angiogenin ISO DNA:mutations:multiple RGD PMID:22190368 RGD:6892707 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Anxa5 annexin A5 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:10584677 RGD:10053728 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO RGD PMID:24835407 RGD:13503333 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: altered expression: cerebrospinal fluid: 2 different isoforms RGD PMID:20085559 RGD:5508216 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arpc3 actin related protein 2/3 complex, subunit 3 treatment IDA RGD PMID:20713051 RGD:11049454 NCBI chr12:39,653,951...39,667,817
Ensembl chr12:39,653,953...39,667,849
JBrowse link
G Atg7 autophagy related 7 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:cingulate gyrus RGD PMID:20502937 RGD:10053605 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23628791 PMID:25149416, PMID:26223426 RGD:10450518 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chr 6:136,180,640...136,185,651
Ensembl chr 6:136,182,006...136,185,651
JBrowse link
G Bdnf brain-derived neurotrophic factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:substantia nigra pars compacta:
CTD PMID:19276553, PMID:15118671, PMID:16565926, PMID:10208589 RGD:1331525, RGD:10059346, RGD:8657025 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chr14:71,798,218...71,814,540
Ensembl chr14:71,798,651...71,814,523
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cast calpastatin ISO DNA:SNP:intron: (rs1559085) (human)
protein:decreased expression:substantia nigra, dopaminergic neuron
RGD PMID:20127884, PMID:10722997 RGD:5509800, RGD:5683320 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930, PMID:10668930 RGD:1626086, RGD:1626086 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:81,683,500...81,701,230
Ensembl chr 1:81,683,463...81,701,317
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 9:30,508,003...30,864,836
Ensembl chr 9:30,515,089...30,844,199
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159062 PMID:25758665 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human) RGD PMID:3502064 RGD:5508835 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22426659 RGD:6482307 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility
ISO DNA:missense mutation:cds:p.I462V (human)
DNA:polymorphisms (human)
RGD PMID:11793160, PMID:8872868, PMID:11484167 RGD:5147678, RGD:5147681, RGD:5147679 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14991823 PMID:15174030 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16510128 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dbh dopamine beta-hydroxylase susceptibility ISO protein:increased expression:frontal cortex (human)
DNA:snp:5' utr:g.-1021C>T (human)
RGD PMID:19276553, PMID:14991826 RGD:5129515, RGD:1358583 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dbn1 drebrin 1 treatment IEP levodopainduced; protein:increased expression:striatum: RGD PMID:23241013 RGD:10398811 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Ddc dopa decarboxylase IEP
ISO
IMP
protein:altered expression:arcuate nucleus ((rat)
CTD Direct Evidence: therapeutic
human gene in a rat model
CTD PMID:2969953 PMID:11445284, PMID:15935614, PMID:12703659, PMID:9853519 RGD:5129231, RGD:4139893, RGD:5129121 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25639775 RGD:10450521 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28215578 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 5:164,913,085...164,943,012
Ensembl chr 5:164,913,906...164,927,869
JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
ISO
IDA
protein:decreased expression:striatum (rat)
CTD Direct Evidence: therapeutic
CTD PMID:8558425, PMID:16365282, PMID:23041629 RGD:7248455, RGD:7248595 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 IEP
ISO
protein:increased expression:striatum (rat)
CTD Direct Evidence: therapeutic
CTD PMID:8558425, PMID:18289173 RGD:2311585 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 severity ISO protein:increased expression:blood, lymphocyte
mRNA:decreased expression:blood, lymphocyte
RGD PMID:10495037, PMID:8618685 RGD:5686418, RGD:5686419 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:blood, lymphocyte RGD PMID:10495037 RGD:5686418 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egf epidermal growth factor disease_progression ISO RGD PMID:21520231 RGD:10059679 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:15567511 RGD:10395348 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G En1 engrailed homeobox 1 ISO DNA:SNP:enhancer: (rs1438852) (human) RGD PMID:19345444 RGD:5687197 NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association ISO DNA:missense mutation:exon:p.Y113H (human)
DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)
RGD PMID:10720475, PMID:11692079 RGD:5490167, RGD:5688390 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Ephx2 epoxide hydrolase 2 no_association ISO DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) RGD PMID:11692079 RGD:5688390 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:19727138 RGD:10400901 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Esr2 estrogen receptor 2 onset ISO DNA:polymorphism: :1730A>G(human) RGD PMID:15219649 RGD:5508776 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:neurones of the substantia nigra pars: RGD PMID:11054182 RGD:12903948 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand IEP
ISO
protein:increased expression:substantia nigra pars compacta, striatum (rat)
protein:decreased expression:neurones of the substantia nigra pars:
RGD PMID:17959308, PMID:11054182 RGD:2290172, RGD:12903948 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar PMID:26223426 RGD:10450518 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 IEP RGD PMID:23888906 RGD:13208826 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Gak cyclin G associated kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711177 NCBI chr14:2,100,104...2,174,332
Ensembl chr14:2,100,106...2,174,318
JBrowse link
G Gba glucosylceramidase beta no_association
onset
ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Parkinson's disease
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)
DNA:missense mutation:cds:p.N370S (human)
DNA:missense mutations:cds:p.E326K, p.T369M (human)
ClinVar
CTD
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16061944 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17620502 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25064009 PMID:25127542 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30662625 PMID:33223529, PMID:21242499, PMID:24126159, PMID:25639775, PMID:26223426, PMID:19945510, PMID:20528910, PMID:20947659 RGD:5508422, RGD:12791016, RGD:10450521, RGD:10450518, RGD:5508429, RGD:5508427, RGD:5508425 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO
IEP
mRNA:increased expression:striatum: RGD PMID:22436046, PMID:24373993 RGD:12738227, RGD:12738228 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:putamen
CTD Direct Evidence: therapeutic
CTD PMID:11031079 PMID:16324109, PMID:16644101 RGD:6218968 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gjc2 gap junction protein, gamma 2 treatment IEP RGD PMID:21561882 RGD:13208520 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:51,822,163...51,844,228
Ensembl chr 4:51,822,153...51,844,331
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15824117 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP protein:decreased expression:caudate putamen (rat) RGD PMID:17996024 RGD:5685370 NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO
IEP
DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293
protein: decreased expression: brain
RGD PMID:21046632, PMID:17996024, PMID:17125886 RGD:5688382, RGD:5685370, RGD:5688384 NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO
IEP
human gene in rat model
protein: decreased expression: brain
RGD PMID:22090514, PMID:17996024 RGD:5684916, RGD:5685370 NCBI chr17:9,705,917...9,721,921
Ensembl chr17:9,703,453...9,721,574
JBrowse link
G Grn granulin precursor no_association ISO protein:decreased expression:serum
DNA:SNP:3' utr:*78C>T (rs5848) (human)
RGD PMID:23398167, PMID:19473366 RGD:10401642, RGD:10401644 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23094836 RGD:10045553 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:increased expression:striatum (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:16510128, PMID:20964710 RGD:5687772 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:cds (human)
CTD PMID:17449559, PMID:17403576, PMID:10534244, PMID:10720475 RGD:5148019, RGD:7488959, RGD:5490167 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility
ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706, PMID:17194543 RGD:1358651, RGD:5490299 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gsto2 glutathione S-transferase omega 2 susceptibility
onset
ISO DNA:polymorphism: : -183 A>G (rs2297235)(human)
DDNA:polymorphism: : -183 A>G (rs2297235)(human)
RGD PMID:17194543, PMID:14570706 RGD:5490299, RGD:1358651 NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517
Ensembl chr 1:271,229,036...271,243,517
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:del: :
CTD Direct Evidence: marker/mechanism
CTD PMID:17190945 PMID:23721876, PMID:9802272 RGD:1358669 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:10953187 RGD:5490165 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO protein:decreased expression:brain, mitochondrion RGD PMID:24333691 RGD:10449046 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP mRNA:increased expression:neuron: RGD PMID:19320057 RGD:9693679 NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16824219 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16791285 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:18184918 RGD:5508459 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194, PMID:17985251 RGD:5509775, RGD:5509778 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA
IEP
protein:decreased expression:midbrain (rat) RGD PMID:24852355, PMID:24296154 RGD:10402545, RGD:10402753 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15585408 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:decreased expression:striatum (rat) RGD PMID:22186119 RGD:5686884 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO
IEP
protein: decreased expression
protein: increased expression: brain
RGD PMID:20697033, PMID:17241115, PMID:18704197 RGD:6218982, RGD:6480228, RGD:6480203 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 disease_progression ISO DNA:mutation:cds:A>T476(human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain
DNA:mutations:multiple:
CTD PMID:16565515, PMID:20817635, PMID:16565515, PMID:18219256, PMID:19657588 RGD:6784528, RGD:6784531, RGD:6784530, RGD:6784529 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:23943523 RGD:10402846 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A IMP RGD PMID:20508280 RGD:5683633 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htra2 HtrA serine peptidase 2 no_association ISO DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)
DNA:missense mutation:cds:p.P143A (human)
DNA:missense mutations:cds:p.A141S, p.G399S (human)
DNA:missense mutation:cds:p.R404W (human)
DNA:missense mutation:cds:p.S276C (mouse)
RGD PMID:15509788, PMID:21338583, PMID:21701785, PMID:18364387, PMID:18401856, PMID:14534547, PMID:15961413 RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Htt huntingtin ISO RGD PMID:26192120 RGD:13452383 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
ISO
protein: altered activity
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:brain:
CTD PMID:19276553, PMID:19703168, PMID:19276553 RGD:5686429, RGD:5129515 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Il1b interleukin 1 beta ISO
IDA
RGD PMID:12070246, PMID:23159314 RGD:1358742, RGD:7175549 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr 7:120,717,378...120,744,602
Ensembl chr 7:120,717,375...120,744,602
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lep leptin treatment IDA rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 susceptibility
no_association
ISO DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human)
DNA:mutation: :p.R1441G (human)
DNA:missense mutation:cds:p.R1398H (human)
DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human)
DNA:missense mutation:cds:p.G2019S (human)
ClinVar
CTD
PMID:17388990 PMID:19357115 PMID:19915575 PMID:19915576 PMID:20205471 PMID:22043175 PMID:23017109 PMID:23472874 PMID:23628791 PMID:25149416 PMID:25475535 PMID:25631236 PMID:26467025 PMID:28492532, PMID:21989859, PMID:25639775, PMID:26223426, PMID:20720502, PMID:20669305, PMID:20721916, PMID:21159540, PMID:21167764, PMID:21483109, PMID:21954089 RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17449559 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B IEP
ISO
protein:increased activity:striatum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21318773, PMID:17417741, PMID:9129714 RGD:2316771, RGD:1358484 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21815648 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapt microtubule-associated protein tau susceptibility ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs8070723) (human)
DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human)
DNA:SNPs, haplotypes: :multiple
CTD PMID:19915575 PMID:20711177, PMID:19879020, PMID:22221882, PMID:18785640, PMID:18162161 RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Minar2 membrane integral NOTCH2 associated receptor 2 ISS MouseDO NCBI chr18:54,108,471...54,123,061
Ensembl chr18:54,108,493...54,123,049
JBrowse link
G Mir1 microRNA 1 ISO RGD PMID:21295623 RGD:10755488 NCBI chr18:2,054,933...2,055,019 JBrowse link
G Mir106a microRNA 106a ISO RGD PMID:25553963 RGD:10450788 NCBI chr  X:140,117,891...140,117,968
Ensembl chr  X:140,117,891...140,117,968
JBrowse link
G Mir132 microRNA 132 ISO RGD PMID:25553963 RGD:10450788 NCBI chr10:62,014,995...62,015,095
Ensembl chr10:62,014,995...62,015,095
JBrowse link
G Mir155 microRNA 155 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28770951 NCBI chr19:25,290,211...25,290,316
Ensembl chr19:25,290,211...25,290,316
JBrowse link
G Mir19b1 microRNA 19b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr15:100,180,464...100,180,550
Ensembl chr15:100,180,464...100,180,550
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir210 microRNA 210 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir22 microRNA 22 ISO RGD PMID:21295623 RGD:10755488 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir29b1 microRNA 29b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr 4:58,344,310...58,344,390
Ensembl chr 4:58,344,310...58,344,390
JBrowse link
G Mir301a microRNA 301a ISO RGD PMID:22003392 RGD:10755479 NCBI chr10:74,417,746...74,417,845
Ensembl chr10:74,417,746...74,417,845
JBrowse link
G Mir34b microRNA 34b ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
JBrowse link
G Mir34c microRNA 34c ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:SNP:cds:m.9055A>G (human) RGD PMID:12618962 RGD:5490292 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 no_association ISO DNA:missense mutation:cds:m.4216T>C (human)
mRNA:decreased expression:substantia nigra, neuron
RGD PMID:11022854, PMID:11506395, PMID:16784756 RGD:5148018, RGD:8657117, RGD:5508706 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:point mutation: :m.5460G>A (human)
DNA:missense mutation::m.5460G>A
RGD PMID:8723226, PMID:10737123 RGD:2302313, RGD:5507832 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO
IMP
DNA:polymorphism:exon:m.10398A>G(human)
ClinVar Annotator: match by term: Parkinson disease, resistance to
protein: decreased activity: brain: MPTP model of Parkinson disease
protein: decreased activity: striatum: rotenone model of Parkinson disease
ClinVar PMID:6343397 PMID:17066297, PMID:15975594, PMID:21291942, PMID:21484267 RGD:5491206, RGD:5687692, RGD:5687691 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:missense mutations: :11253T>C, 12084C>T (human) RGD PMID:10737123 RGD:5507832 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mta1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27044752 NCBI chr 6:137,911,302...137,950,066
Ensembl chr 6:137,924,293...137,950,075
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30726997 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :1049A>G (human) RGD PMID:21070756 RGD:5508183 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Nanog Nanog homeobox treatment ISO mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell RGD PMID:24954161 RGD:9681444 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:9343502 RGD:2303766 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 6:144,291,313...144,362,454
Ensembl chr 6:144,291,974...144,363,947
JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO RGD PMID:26605748 RGD:13504667 NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:26605748 RGD:13504667 NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 onset ISO protein:increased oxidation:brain, mitochondrion (mouse) RGD PMID:21196577 RGD:6484690 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO RGD PMID:21383081 RGD:6484691 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 susceptibility ISO DNA:polymorphism: :p.A29V
ClinVar Annotator: match by term: Parkinson disease, susceptibility to
ClinVar PMID:9570948, PMID:9570948 RGD:2302386 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:34,340,607...34,352,673
Ensembl chr15:34,340,607...34,352,673
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RNA, protein:increased expression:neutrophil
CTD Direct Evidence: marker/mechanism
CTD PMID:26383258, PMID:11020342, PMID:11809160 RGD:5132632, RGD:1358519 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:striatum (mouse) RGD PMID:21970803 RGD:5509573 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17188257 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 susceptibility ISO DNA:deletion:promoter: (human) RGD PMID:18314446 RGD:11073691 NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO
ISS
DNA:insertion:intron:g.7048_7049insG (human)
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
MouseDO
ClinVar
PMID:11914402 RGD:1358553 NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO RGD PMID:7700529 RGD:9743906 NCBI chr 3:175,982,313...176,046,345
Ensembl chr 3:175,885,894...176,046,345
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:substantia nigra, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Optn optineurin IEP protein:increased expression:substantia nigra (rat) RGD PMID:27473339 RGD:13432580 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
JBrowse link
G Park7 Parkinsonism associated deglycase onset ISO
IMP
DNA:missense mutation, deletion: :L166P
ClinVar Annotator: match by term: Parkinson Disease, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
CTD
PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 PMID:20981092 PMID:22043175 PMID:22898350 PMID:23037695 PMID:23792957 PMID:25149416 PMID:26467025 PMID:27884173 PMID:28492532, PMID:12851414, PMID:24157858, PMID:23766857 RGD:1601073, RGD:12880446, RGD:10450523 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 RGD:12880446
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility
no_association
ISO DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)
DNA:snps:multiple (human)
RGD PMID:17362997, PMID:21767974 RGD:5510024, RGD:5510021 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:striatum: RGD PMID:11501038 RGD:10003114 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: intron: rs11155313 RGD PMID:19429005 RGD:6483095 NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP
ClinVar Annotator: match by term: Parkinson's disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17010972 PMID:21366594 PMID:22043175 PMID:24374061 PMID:25149416 PMID:30734931, PMID:25421206, PMID:24157858, PMID:25639775, PMID:26223426 RGD:11560775, RGD:12880446, RGD:10450521, RGD:10450518 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858, PMID:25421206 RGD:12880446, RGD:11560775
G Pitx3 paired-like homeodomain 3 model ISO
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO PMID:18573342 RGD:11535079 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
G Pla2g6 phospholipase A2 group VI onset
no_association
ISO DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)
DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)
RGD PMID:20938027, PMID:21368765 RGD:6482733, RGD:6482734 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit onset ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human)
DNA:missense mutations:exons:p.R853W,p.G737R(human)
RGD PMID:15351195, PMID:23865558, PMID:16634032 RGD:8694175, RGD:8694203, RGD:8694201 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset ISO DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:30236862, PMID:21595954, PMID:21376232 RGD:6484270, RGD:6484271 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B IEP protein:altered localization:striate nucleus (rat) RGD PMID:18372251 RGD:10043801 NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
JBrowse link
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO protein:decreased tyrosine phosphorylation:brain (human) RGD PMID:24395787 RGD:8693390 NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO
IDA
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
protein:increased tyrosine-phosphorylation:substantia nigra, striatum,
DNA:deletions:exons: (human)
CTD PMID:12588799 PMID:15198987 PMID:15882845 PMID:16573651 PMID:17010972 PMID:19946270 PMID:22043175 PMID:22841634 PMID:23628791 PMID:24582596 PMID:25149416 PMID:25631236 PMID:28284907, PMID:12629236, PMID:28526446, PMID:28583715, PMID:28695462, PMID:25639775, PMID:26223426, PMID:20823226, PMID:16914382, PMID:9560156 RGD:737763, RGD:13432567, RGD:13432563, RGD:13432207, RGD:10450521, RGD:10450518, RGD:8693409, RGD:10413859, RGD:9693725 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Ptn pleiotrophin treatment IDA RGD PMID:19615368 RGD:10044022 NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
JBrowse link
G Rpl14 ribosomal protein L14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 8:129,240,528...129,243,400
Ensembl chr 8:129,240,528...129,243,402
JBrowse link
G Rpl23a ribosomal protein L23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr10:65,441,295...65,443,981
Ensembl chr10:65,441,295...65,443,981
JBrowse link
G Rpl6 ribosomal protein L6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
JBrowse link
G Rps8 ribosomal protein S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 5:136,020,941...136,023,511
Ensembl chr 5:136,020,941...136,023,511
JBrowse link
G Rrn3 RRN3 homolog, RNA polymerase I transcription factor ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:3,170,387...3,214,648
Ensembl chr10:3,170,742...3,214,655
JBrowse link
G RT1-Da RT1 class II, locus Da onset ISO DNA:SNP:intron: (rs3129882) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20711177, PMID:20711177 RGD:5490158 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism: :HLA-DRB1*03 (human) RGD PMID:20462916 RGD:5147576 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21725169, PMID:21402140 RGD:5508763, RGD:5508766 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO protein:decreased expression:substantia nigra, neuron RGD PMID:26605748 RGD:13504667 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Septin14 septin 14 susceptibility ISO DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) RGD PMID:27115672 RGD:13504669 NCBI chr12:30,600,162...30,623,173
Ensembl chr12:30,600,957...30,621,079
JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:74,860,068...74,884,196
Ensembl chr10:74,861,714...74,884,196
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO protein:increased expression:serum, extracellular exosome (human) RGD PMID:31593110 RGD:27226691 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO DNA:polymorphism:cds:1254T>C(human) RGD PMID:21777657, PMID:19011085 RGD:5688403, RGD:5688713 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc18a2 solute carrier family 18 member A2 resistance IEP
ISO
IMP
mRNA:decreased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:putamen, caudate nucleus, striatum (human)
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
CTD PMID:16112329, PMID:21291984, PMID:16269145, PMID:16421508, PMID:11463816, PMID:16339215 RGD:5131086, RGD:5129143, RGD:5131167, RGD:5131163, RGD:5131165 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25149416 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Snca synuclein alpha ISO
IDA
human gene in a mouse model
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral spinal fluid:
DNA:missense mutation:cds:p.S129A(human)
DNA:mutation:cds:G209A(human)
DNA:mutation:cds:p.A30P(human)
protein:increased expression:astrocyte, oligodendroglial cell
ClinVar
CTD
PMID:11535288 PMID:12151787 PMID:12732244 PMID:12885775 PMID:14535945 PMID:15099020 PMID:17131421 PMID:17690948 PMID:18322262 PMID:18353766 PMID:18841091 PMID:19915575 PMID:19915576 PMID:20664293 PMID:20711177 PMID:21245015 PMID:21892157 PMID:22043175 PMID:22110584 PMID:22166454 PMID:22185909 PMID:22355530 PMID:23427326 PMID:23457019 PMID:24047453 PMID:24509835 PMID:24752924 PMID:24833599 PMID:24936070 PMID:25064009 PMID:25106480 PMID:25149416 PMID:25393002 PMID:25475535 PMID:25631236 PMID:26341711 PMID:28492532, PMID:10678833, PMID:18625222, PMID:18178617, PMID:25639775, PMID:26223426, PMID:26501339, PMID:9197268, PMID:9462735, PMID:10651022, PMID:17448146, PMID:12122208 RGD:1302527, RGD:13506723, RGD:13506646, RGD:10450521, RGD:10450518, RGD:10450517, RGD:6480197, RGD:6480196, RGD:6480094, RGD:6478794, RGD:730239 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
ClinVar Annotator: match by term: Parkinson's disease
ClinVar PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532 NCBI chr18:47,739,284...47,877,679
Ensembl chr18:47,739,140...47,877,676
JBrowse link
G Sncb synuclein, beta onset ISO DNA:SNP: :rs1352303(human)
protein:increased expression:hippocampus
RGD PMID:17556099, PMID:10557341 RGD:6478793, RGD:6480095 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus RGD PMID:10557341 RGD:6480095 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:15824117 PMID:16353238 PMID:21318773, PMID:16353238 RGD:8655933 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:17188257 PMID:18353766 PMID:25279756, PMID:11161607 RGD:13464352 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spr sepiapterin reductase ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) RGD PMID:20161708 RGD:11038728 NCBI chr10:13,128,820...13,162,956
Ensembl chr10:13,145,099...13,162,343
JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25639775 RGD:10450521 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Taldo1 transaldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:mutation:cds:p.A382T (human) RGD PMID:21667065, PMID:20551689 RGD:5687172, RGD:5687183 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tcn2 transcobalamin 2 ISO RGD PMID:20027219 RGD:11060125 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility
no_association
ISO
ISS
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human)
DNA:missense mutation:exon:p.S12T (rs1937) (human)
MouseDO PMID:19925850, PMID:17537576, PMID:18248889 RGD:14389730, RGD:6771185, RGD:6771184 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Th tyrosine hydroxylase IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism
human gene in a rat model
protein:decreased expression:substantia nigra (mouse)
protein:decreased expression:midbrain, neuron (rat)
protein:decreased expression:striatum (human)
CTD PMID:30236862, PMID:2573072, PMID:9853519, PMID:21323909, PMID:21376343, PMID:15857400 RGD:5129120, RGD:5129121, RGD:5128616, RGD:5128607, RGD:2289955 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem230 transmembrane protein 230 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270108 NCBI chr 3:124,870,867...124,879,274
Ensembl chr 3:124,870,869...124,879,216
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) RGD PMID:19780901 RGD:5130931 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:23686771 PMID:25741868 PMID:26595808 NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26595808 PMID:28492532 NCBI chr13:77,602,249...77,678,385
Ensembl chr13:77,485,113...77,678,437
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27957685 NCBI chr20:11,434,062...11,482,880
Ensembl chr20:11,436,267...11,482,051
JBrowse link
G Twnk twinkle mtDNA helicase ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:37,724,915...37,752,827
Ensembl chr10:37,724,915...37,752,826
JBrowse link
G Vdr vitamin D receptor onset ISO DNA:polymorphisms: :rs4334089, rs2853559(human) RGD PMID:21309754 RGD:13217419 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19476518 RGD:5685606 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26942284 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson's disease
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25149416 PMID:25741868, PMID:25701813, PMID:25639775, PMID:26223426 RGD:10450845, RGD:10450521, RGD:10450518 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
JBrowse link
Parkinson's disease 1 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: Parkinson disease 1, autosomal dominant
ClinVar Annotator: match by OMIM:168601
OMIM
ClinVar
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:20437567 PMID:23427326 PMID:23457019 PMID:23526723 PMID:24047453 PMID:24158904 PMID:24158909 PMID:24936070 PMID:26341711 PMID:28492532 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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 OMIM:607688
ClinVar Annotator: match by term: Parkinson disease 11
ClinVar
OMIM
PMID:18358451 PMID:18923002 PMID:19250854 PMID:19279319 PMID:19449032 PMID:24033266 PMID:25326637 PMID:25741868 NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
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 ClinVar PMID:18401856 PMID:18790661 NCBI chr 4:113,887,030...113,890,103
Ensembl chr 4:113,887,115...113,890,101
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Parkinson disease 13
ClinVar Annotator: match by OMIM:610297
OMIM
ClinVar
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 PMID:21163861 PMID:21338583 PMID:21701785 PMID:25422467 PMID:25741868 PMID:28492532 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Parkinson disease 13 ClinVar PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 PMID:25422467 PMID:25741868 PMID:28492532 NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
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: DYSTONIA-PARKINSONISM, ADULT-ONSET
ClinVar Annotator: match by OMIM:612953
OMIM
ClinVar
PMID:18570303 PMID:18981035 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21700586 PMID:24088041 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:30302010 PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678 PMID:19038853 PMID:20603184 PMID:23352116 PMID:24112787 PMID:25029497 PMID:25174650 PMID:25741868 PMID:27294386 PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
Parkinson's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease 17 OMIM
ClinVar
PMID:18342564 PMID:21763483 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:25288323 PMID:26251041 PMID:28492532 PMID:28796472 PMID:28862745 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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: Parkinson disease 19a, juvenile-onset
ClinVar Annotator: match by term: Parkinson disease 19b, early-onset
OMIM
ClinVar
PMID:2256350 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25741868 PMID:26528954 PMID:26703368 PMID:28492532 PMID:32214227 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
JBrowse link
Parkinson's disease 2 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: Young-onset Parkinson disease ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16172858 PMID:16240353 PMID:16251215 PMID:16269541 PMID:16272257 PMID:16298482 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16614029 PMID:16632201 PMID:16643318 PMID:16728648 PMID:16750929 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17020475 PMID:17050822 PMID:17060595 PMID:17083102 PMID:17095157 PMID:17114044 PMID:17115391 PMID:17200152 PMID:17215492 PMID:17353388 PMID:17584768 PMID:17914064 PMID:17938369 PMID:18182054 PMID:18213618 PMID:18258746 PMID:18353371 PMID:18445495 PMID:18539534 PMID:18539535 PMID:18675914 PMID:18704525 PMID:18752982 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:19412725 PMID:19513331 PMID:19741132 PMID:20008657 PMID:20130188 PMID:20197411 PMID:20881132 PMID:20933457 PMID:21115957 PMID:21168496 PMID:21248115 PMID:21280089 PMID:21362567 PMID:21378983 PMID:21494637 PMID:21686713 PMID:21714003 PMID:21753159 PMID:21753163 PMID:21954089 PMID:22194196 PMID:22539006 PMID:22575234 PMID:22773119 PMID:22914834 PMID:23075850 PMID:23396536 PMID:23472874 PMID:23813973 PMID:24033266 PMID:24123150 PMID:24148854 PMID:24243757 PMID:24863511 PMID:25107341 PMID:25309331 PMID:25330404 PMID:25330418 PMID:25401981 PMID:25416817 PMID:25434972 PMID:25446991 PMID:25493281 PMID:25540317 PMID:25741868 PMID:25836420 PMID:26062626 PMID:26251043 PMID:26269629 PMID:26365310 PMID:26467025 PMID:26651604 PMID:26824392 PMID:28103901 PMID:28321439 PMID:28465860 PMID:28492532 PMID:28821568 PMID:28973664 PMID:29129681 PMID:29386392 PMID:29387348 PMID:29627023 PMID:29907646 PMID:30045977 PMID:30046008 PMID:30507963 PMID:30639209 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Parkinson disease 2 ClinVar PMID:16328510 PMID:28492532 NCBI chr 1:50,070,273...50,491,323 JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease 2 ClinVar PMID:26864383 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Parkinson disease 2
ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM
ClinVar
PMID:7565830 PMID:9560156 PMID:9731209 PMID:9802278 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10894217 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11163284 PMID:11179010 PMID:11402119 PMID:11405814 PMID:11487568 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12056932 PMID:12116199 PMID:12397156 PMID:12629236 PMID:12707457 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12891670 PMID:12975291 PMID:14519684 PMID:15090472 PMID:15193026 PMID:15390068 PMID:15606901 PMID:15816865 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16086186 PMID:16130111 PMID:16227559 PMID:16269266 PMID:16328510 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16500134 PMID:16606767 PMID:16643317 PMID:16714300 PMID:16769863 PMID:16793319 PMID:17095157 PMID:17187375 PMID:17415800 PMID:17766365 PMID:17914726 PMID:18211709 PMID:18413468 PMID:18486522 PMID:18514563 PMID:18519021 PMID:18685134 PMID:18927607 PMID:18973255 PMID:19006224 PMID:19162522 PMID:19205068 PMID:19405094 PMID:19636047 PMID:19715670 PMID:19801972 PMID:19946270 PMID:20301651 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21215313 PMID:21322020 PMID:21348451 PMID:21534944 PMID:21681106 PMID:21694720 PMID:21993715 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22302706 PMID:22523156 PMID:22555654 PMID:22766139 PMID:22777964 PMID:22956510 PMID:22995991 PMID:23275044 PMID:23531835 PMID:23727886 PMID:23751051 PMID:23770917 PMID:23818421 PMID:23835509 PMID:23880019 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24375549 PMID:24647965 PMID:24677602 PMID:24816432 PMID:24831986 PMID:25174650 PMID:25238391 PMID:25558820 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27006626 PMID:27094865 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27534820 PMID:28492532 PMID:30537300 PMID:32214227 NCBI chr 1:48,880,015...50,069,998 JBrowse link
Parkinson's disease 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset OMIM
ClinVar
PMID:23804563 PMID:23804577 PMID:24609975 PMID:25316601 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27496670 PMID:27869329 PMID:28135719 PMID:28492532 PMID:29163333 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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 OMIM
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
JBrowse link
Parkinson's disease 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100911516 coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like ISO ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant OMIM
ClinVar
PMID:25662902 PMID:26067113 NCBI chr 9:101,106,892...101,107,591
Ensembl chr 9:101,106,892...101,107,575
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: Parkinson disease 23, autosomal recessive early-onset ClinVar
OMIM
PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
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 OMIM NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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 susceptibility ISO ClinVar Annotator: match by term: Parkinson disease 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 PMID:15048890 PMID:16450370 PMID:18411255 PMID:18550537 PMID:19864305 PMID:21268678 PMID:22839974 PMID:28007905 PMID:28492532 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
Parkinson's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by synonym: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar Annotator: match by term: PINK1-Related Parkinsonism
ClinVar Annotator: match by OMIM:605909
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2345993 PMID:2546640 PMID:15087508 PMID:15349860 PMID:15349870 PMID:15349871 PMID:15584030 PMID:15596610 PMID:15824318 PMID:15955953 PMID:15970950 PMID:16009891 PMID:16207217 PMID:16207731 PMID:16257123 PMID:16401616 PMID:16482571 PMID:16547921 PMID:16632486 PMID:16702191 PMID:16755580 PMID:16769864 PMID:16805805 PMID:16966503 PMID:16969854 PMID:17030667 PMID:17055324 PMID:17172567 PMID:17579517 PMID:17960343 PMID:18003639 PMID:18330912 PMID:18359116 PMID:18403612 PMID:18486522 PMID:18524835 PMID:18546294 PMID:18685134 PMID:18704525 PMID:18785233 PMID:19048950 PMID:19087301 PMID:19229105 PMID:19351622 PMID:19847793 PMID:19889566 PMID:19890973 PMID:20126261 PMID:20356854 PMID:20506312 PMID:20558144 PMID:20981092 PMID:21412950 PMID:21421046 PMID:21488273 PMID:21534944 PMID:21925922 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22445250 PMID:22451330 PMID:22644621 PMID:22764206 PMID:22956510 PMID:23303188 PMID:23459931 PMID:23986421 PMID:24033266 PMID:24167364 PMID:24374372 PMID:24475098 PMID:24660942 PMID:25466404 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27003823 PMID:27094865 PMID:27574110 PMID:27884173 PMID:28492532 PMID:28849312 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
Parkinson's disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease 7
ClinVar Annotator: match by term: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606324
OMIM
ClinVar
CTD
PMID:1818649 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15254937 PMID:15365989 PMID:15790532 PMID:15944198 PMID:16997464 PMID:18181649 PMID:18436956 PMID:18436965 PMID:18973254 PMID:19405094 PMID:19429112 PMID:20639397 PMID:20981092 PMID:21532868 PMID:22173095 PMID:22428580 PMID:22492997 PMID:22960331 PMID:22995991 PMID:23241025 PMID:23792957 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:27884173 PMID:28348719 PMID:28492532 PMID:28993701 PMID:29599708 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
Parkinson's disease 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant
ClinVar Annotator: match by OMIM:607060
ClinVar
OMIM
PMID:7898705 PMID:9276200 PMID:15541308 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15880653 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16003110 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16157908 PMID:16157909 PMID:16172858 PMID:16240353 PMID:16251215 PMID:16269541 PMID:16272164 PMID:16272257 PMID:16298482 PMID:16311269 PMID:16321986 PMID:16333314 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16614029 PMID:16616379 PMID:16632201 PMID:16633828 PMID:16643318 PMID:16728648 PMID:16750377 PMID:16750929 PMID:16788020 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17019612 PMID:17020475 PMID:17050822 PMID:17060595 PMID:17078063 PMID:17083102 PMID:17095157 PMID:17114044 PMID:17115391 PMID:17149743 PMID:17179858 PMID:17200152 PMID:17215492 PMID:17222106 PMID:17353388 PMID:17419834 PMID:17447891 PMID:17482357 PMID:17523199 PMID:17540608 PMID:17584768 PMID:17622782 PMID:17659642 PMID:17803033 PMID:17804834 PMID:17914064 PMID:17938369 PMID:18182054 PMID:18197194 PMID:18213618 PMID:18230735 PMID:18258746 PMID:18265005 PMID:18353371 PMID:18358451 PMID:18412265 PMID:18445495 PMID:18539534 PMID:18539535 PMID:18591067 PMID:18675914 PMID:18688798 PMID:18704525 PMID:18716801 PMID:18752982 PMID:18781329 PMID:18923807 PMID:18973807 PMID:18981379 PMID:18986508 PMID:19006185 PMID:19020907 PMID:19283415 PMID:19308469 PMID:19357115 PMID:19405094 PMID:19412725 PMID:19472409 PMID:19489756 PMID:19513331 PMID:19667187 PMID:19699188 PMID:19741132 PMID:19800393 PMID:20008657 PMID:20130188 PMID:20177695 PMID:20186690 PMID:20197411 PMID:20301387 PMID:20443975 PMID:20642453 PMID:20669299 PMID:20721913 PMID:20881132 PMID:20933457 PMID:21060682 PMID:21115957 PMID:21168496 PMID:21248115 PMID:21280089 PMID:21362567 PMID:21378983 PMID:21406209 PMID:21494637 PMID:21538529 PMID:21632271 PMID:21658387 PMID:21661047 PMID:21686713 PMID:21714003 PMID:21753159 PMID:21753163 PMID:21796139 PMID:21885347 PMID:21954089 PMID:22194196 PMID:22251894 PMID:22415848 PMID:22445250 PMID:22539006 PMID:22575234 PMID:22773119 PMID:22914834 PMID:22988866 PMID:22988870 PMID:23075850 PMID:23241745 PMID:23396536 PMID:23472874 PMID:23726462 PMID:23813973 PMID:23913756 PMID:23963289 PMID:24033266 PMID:24123150 PMID:24148854 PMID:24243757 PMID:24470158 PMID:24488318 PMID:24565865 PMID:24695735 PMID:24821816 PMID:24863511 PMID:25027012 PMID:25107341 PMID:25243190 PMID:25309331 PMID:25330404 PMID:25330418 PMID:25378673 PMID:25401981 PMID:25416817 PMID:25434972 PMID:25446991 PMID:25493281 PMID:25540317 PMID:25741868 PMID:25821816 PMID:25836420 PMID:26062626 PMID:26251043 PMID:26269629 PMID:26365310 PMID:26467025 PMID:26651604 PMID:26824392 PMID:26930193 PMID:27094865 PMID:27111571 PMID:27832104 PMID:28103901 PMID:28321439 PMID:28465860 PMID:28492532 PMID:28821568 PMID:28973664 PMID:29129681 PMID:29248340 PMID:29369408 PMID:29386392 PMID:29387348 PMID:29627023 PMID:29859640 PMID:29907646 PMID:30039155 PMID:30045977 PMID:30046008 PMID:30507963 PMID:30639209, PMID:21796139 RGD:5508405 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:66,276,835...66,284,868
Ensembl chr 4:66,276,835...66,284,868
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by null ClinVar PMID:9570948 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
JBrowse link
Parkinsonism-Dystonia, Infantile 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism
CTD
ClinVar
PMID:10889530 PMID:16103889 PMID:16171832 PMID:16212992 PMID:18614672 PMID:19590515 PMID:20427663 PMID:22495311 PMID:23979605 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:26931468 PMID:27555326 PMID:28263315 PMID:28492532 PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 1 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: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar
PMID:19478460 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 PMID:25741436 PMID:25741868 PMID:28492532 PMID:29559554 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Parkinsonism-Dystonia, Infantile, 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
ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease
ClinVar Annotator: match by term: Abnormal dense granules
ClinVar
OMIM
PMID:23363473 PMID:32581362 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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 OMIM NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
Shy-Drager Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6850280 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
ClinVar Annotator: match by term: Spinocerebellar ataxia 2
OMIM
ClinVar
PMID:25741868 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
striatonigral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup62 nucleoporin 62 ISS OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
JBrowse link
G Pde8b phosphodiesterase 8B ISS OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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 OMIM:617054
ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset
ClinVar
OMIM
PMID:25741868 PMID:27292112 NCBI chr19:40,927,007...41,029,206
Ensembl chr19:40,927,007...41,029,206
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 null
ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar PMID:16786527 NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
JBrowse link
G Nup62 nucleoporin 62 ISO ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar Annotator: match by OMIM:271930
OMIM
ClinVar
PMID:16786527 NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
JBrowse link
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial ClinVar PMID:7668837 PMID:8554662 PMID:9270604 PMID:9501263 PMID:9631394 PMID:17663470 PMID:22789932 PMID:23206802 PMID:24002810 PMID:25741868 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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: Parkinsonism, early onset with mental retardation ClinVar PMID:25434005 NCBI chr20:295,338...310,363
Ensembl chr20:295,250...310,380
JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,895,202...71,980,019 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          synucleinopathy 285
            Parkinson's disease + 261
            multiple system atrophy + 29
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            synucleinopathy 285
              Parkinson's disease + 261
              multiple system atrophy + 29
paths to the root