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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:Parkinson's disease
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Accession:DOID:14330 term browser browse the term
Definition:A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)
Synonyms:exact_synonym: Idiopathic Parkinson's Disease;   Lewy Body Parkinson Disease;   Lewy Body Parkinson's Disease;   PARKINSON DISEASE, DOMINANT/RECESSIVE;   PARKINSON'S DISEASE, DOMINANT;   PARKINSON'S DISEASE, DOMINANT/RECESSIVE;   PARKINSON'S DISEASE, RECESSIVE;   Paralysis Agitans;   Parkinson Disease;   idiopathic Parkinson disease;   primary parkinsonism
 narrow_synonym: PARKINSON DISEASE, DOMINANT;   PARKINSON DISEASE, RECESSIVE;   PARKINSONISM/MELAS OVERLAP SYNDROME;   familial Parkinson's disease
 related_synonym: PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO;   PARKINSON DISEASE, RESISTANCE TO;   Parkinson Disease, Susceptibility To;   Parkinson's disease, resistance to;   Parkinson's disease, susceptibility to
 primary_id: MESH:D010300
 xref: EFO:0002508;   GARD:10251;   ICD9CM:332;   MIM:PS168600;   MONDO:0005180;   NCI:C26845;   ORDO:2828
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin onset ISO DNA:polymorphism: :p.I1000V (human) GAD
RGD		 PMID:15118671 PMID:12133586 RGD:1331525, RGD:10046014 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20558393 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO
IEP		 protein:increased phosphorylation:striatum:
protein:increased expression:brain:		 RGD PMID:20823226 PMID:24412932 PMID:24412932 RGD:8693409, RGD:8693592, RGD:8693592 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:19474411 RGD:5509846 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adarb2 adenosine deaminase RNA specific B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr17:61,750,437...62,300,984
Ensembl chr17:61,756,067...62,300,831 		JBrowse link
G Adcy5 adenylate cyclase 5 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182 		JBrowse link
G Afdn afadin, adherens junction formation factor ISO protein:decreased expression: caudate-putamen, substantia nigra RGD PMID:23393160 RGD:13838733 NCBI chr 1:53,905,344...54,034,216
Ensembl chr 1:53,905,373...54,034,216 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:caudate nucleus,putamen,substantia nigra: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 no_association ISO DNA:SNPs:introns:multiple (human)
DNA:SNPs, haplotype:introns:multiple (human)
protein:altered expression:brain		 RGD PMID:21741444 PMID:18395980 PMID:19800394 RGD:5509064, RGD:5509076, RGD:5509074 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:24491970 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Ang angiogenin ISO DNA:mutations:multiple RGD PMID:22190368 RGD:6892707 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Anxa5 annexin A5 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:10584677 RGD:10053728 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO RGD PMID:24835407 RGD:13503333 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: altered expression: cerebrospinal fluid: 2 different isoforms RGD PMID:20085559 RGD:5508216 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arpc3 actin related protein 2/3 complex, subunit 3 treatment IDA RGD PMID:20713051 RGD:11049454 NCBI chr12:34,172,780...34,186,651
Ensembl chr12:34,172,780...34,186,651 		JBrowse link
G Atg7 autophagy related 7 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:cingulate gyrus RGD PMID:20502937 RGD:10053605 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23628791 PMID:25149416 PMID:26223426 RGD:10450518 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Axin2 axin 2 ameliorates IMP RGD PMID:31078578 RGD:151356747 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Bdnf brain-derived neurotrophic factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:substantia nigra pars compacta:		 CTD
RGD		 PMID:19276553 PMID:15118671 PMID:16565926 PMID:10208589 RGD:1331525, RGD:10059346, RGD:8657025 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cast calpastatin ISO DNA:SNP:intron: (rs1559085) (human)
protein:decreased expression:substantia nigra, dopaminergic neuron		 RGD PMID:20127884 PMID:10722997 RGD:5509800, RGD:5683320 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930 PMID:10668930 RGD:1626086, RGD:1626086 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit susceptibility ISO DNA:SNP:promoter: c.-57A>G(human) RGD PMID:24731518 RGD:405849280 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159062 PMID:25758665 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human) RGD PMID:3502064 RGD:5508835 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Cripto cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:22426659 RGD:6482307 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility		 ISO DNA:missense mutation:cds:p.I462V (human)
DNA:polymorphisms (human)		 RGD PMID:11793160 PMID:8872868 PMID:11484167 RGD:5147678, RGD:5147681, RGD:5147679 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14991823 PMID:15174030 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16510128 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dbh dopamine beta-hydroxylase susceptibility ISO protein:increased expression:frontal cortex (human)
DNA:snp:5' utr:g.-1021C>T (human)		 RGD PMID:19276553 PMID:14991826 RGD:5129515, RGD:1358583 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dbn1 drebrin 1 treatment IEP levodopainduced; protein:increased expression:striatum: RGD PMID:23241013 RGD:10398811 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		JBrowse link
G Ddc dopa decarboxylase IEP
ISO
IMP		 protein:altered expression:arcuate nucleus ((rat)
CTD Direct Evidence: therapeutic
human gene in a rat model		 CTD
RGD		 PMID:2969953 PMID:11445284 PMID:15935614 PMID:12703659 PMID:9853519 RGD:5129231, RGD:4139893, RGD:5129121 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25639775 RGD:10450521 NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28215578 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
ISO
IDA		 protein:decreased expression:striatum (rat)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:8558425 PMID:16365282 PMID:23041629 RGD:7248455, RGD:7248595 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 IEP
ISS
ISO		 protein:increased expression:striatum (rat)
CTD Direct Evidence: therapeutic		 MouseDO
CTD
RGD		 PMID:8558425 PMID:18289173 RGD:2311585 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 severity ISO protein:increased expression:blood, lymphocyte
mRNA:decreased expression:blood, lymphocyte		 RGD PMID:10495037 PMID:8618685 RGD:5686418, RGD:5686419 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:blood, lymphocyte RGD PMID:10495037 RGD:5686418 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egf epidermal growth factor disease_progression ISO RGD PMID:21520231 RGD:10059679 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:15567511 RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G En1 engrailed homeobox 1 ISO
ISS		 DNA:SNP:enhancer: (rs1438852) (human) MouseDO
RGD		 PMID:19345444 RGD:5687197 NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association ISO DNA:missense mutation:exon:p.Y113H (human)
DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)		 RGD PMID:10720475 PMID:11692079 RGD:5490167, RGD:5688390 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Ephx2 epoxide hydrolase 2 no_association ISO DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) RGD PMID:11692079 RGD:5688390 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:19727138 RGD:10400901 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Esr2 estrogen receptor 2 onset ISO DNA:polymorphism: :1730A>G(human) RGD PMID:15219649 RGD:5508776 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:neurones of the substantia nigra pars: RGD PMID:11054182 RGD:12903948 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand IEP
ISO		 protein:increased expression:substantia nigra pars compacta, striatum (rat)
protein:decreased expression:neurones of the substantia nigra pars:		 RGD PMID:17959308 PMID:11054182 RGD:2290172, RGD:12903948 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar
RGD		 PMID:26223426 RGD:10450518 NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Fcer2 Fc epsilon receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 IEP RGD PMID:23888906 RGD:13208826 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Gak cyclin G associated kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711177 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398 		JBrowse link
G Gba1 glucosylceramidase beta 1 no_association
onset		 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)
DNA:missense mutation:cds:p.N370S (human)
DNA:missense mutations:cds:p.E326K, p.T369M (human)		 ClinVar
CTD
RGD		 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... RGD:5508422, RGD:12791016, RGD:10450521, RGD:10450518, RGD:5508429, RGD:5508427, RGD:5508425 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO
IEP		 mRNA:increased expression:striatum: RGD PMID:22436046 PMID:24373993 RGD:12738227, RGD:12738228 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:putamen
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:11031079 PMID:16324109 PMID:16644101 RGD:6218968 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gjc2 gap junction protein, gamma 2 treatment IEP RGD PMID:21561882 RGD:13208520 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP protein:decreased expression:caudate putamen (rat) RGD PMID:17996024 RGD:5685370 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO
IEP		 DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293
protein: decreased expression: brain		 RGD PMID:21184589 PMID:17996024 PMID:17125886 RGD:5688382, RGD:5685370, RGD:5688384 NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO
IEP		 human gene in rat model
protein: decreased expression: brain		 RGD PMID:22090514 PMID:17996024 RGD:5684916, RGD:5685370 NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Grn granulin precursor no_association ISO protein:decreased expression:serum
DNA:SNP:3' utr:*78C>T (rs5848) (human)		 RGD PMID:23398167 PMID:19473366 RGD:10401642, RGD:10401644 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23094836 RGD:10045553 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:increased expression:striatum (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16510128 PMID:20964710 RGD:5687772 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
onset		 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:cds (human)		 CTD
RGD		 PMID:17449559 PMID:17403576 PMID:10534244 PMID:10720475 RGD:5148019, RGD:7488959, RGD:5490167 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility		 ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706 PMID:17194543 RGD:1358651, RGD:5490299 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 susceptibility
onset		 ISO DNA:polymorphism: : -183 A>G (rs2297235)(human)
DDNA:polymorphism: : -183 A>G (rs2297235)(human)		 RGD PMID:17194543 PMID:14570706 RGD:5490299, RGD:1358651 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:del: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17190945 PMID:23721876 PMID:9802272 RGD:1358669 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:10953187 RGD:5490165 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hbb hemoglobin subunit beta ISO protein:decreased expression:brain, mitochondrion RGD PMID:24333691 RGD:10449046 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:158,271,871...158,273,426
Ensembl chr 1:158,271,873...158,273,425 		JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP mRNA:increased expression:neuron: RGD PMID:19320057 RGD:9693679 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16824219 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16791285 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:18184918 RGD:5508459 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194 PMID:17985251 RGD:5509775, RGD:5509778 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA
IEP		 protein:decreased expression:midbrain (rat) RGD PMID:24852355 PMID:24296154 RGD:10402545, RGD:10402753 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15585408 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:decreased expression:striatum (rat) RGD PMID:22186119 RGD:5686884 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO
IEP		 protein: decreased expression
protein: increased expression: brain		 RGD PMID:20697033 PMID:17241115 PMID:18704197 RGD:6218982, RGD:6480228, RGD:6480203 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 disease_progression ISO DNA:mutation:cds:A>T476(human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain
DNA:mutations:multiple:		 CTD
RGD		 PMID:16565515 PMID:20817635 PMID:16565515 PMID:18219256 PMID:19657588 RGD:6784528, RGD:6784531, RGD:6784530, RGD:6784529 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:23943523 RGD:10402846 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A IMP RGD PMID:20508280 RGD:5683633 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htra2 HtrA serine peptidase 2 no_association ISO DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)
DNA:missense mutation:cds:p.P143A (human)
DNA:missense mutations:cds:p.A141S, p.G399S (human)
DNA:missense mutation:cds:p.R404W (human)
DNA:missense mutation:cds:p.S276C (mouse)		 RGD PMID:15509788 PMID:21338583 PMID:21701785 PMID:18364387 PMID:18401856 More... RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Htt huntingtin ISO RGD PMID:26192120 RGD:13452383 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
ISO		 protein: altered activity
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:brain:		 CTD
RGD		 PMID:19276553 PMID:19703168 PMID:19276553 RGD:5686429, RGD:5129515 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Il1b interleukin 1 beta ISO
IDA		 RGD PMID:12070246 PMID:23159314 RGD:1358742, RGD:7175549 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lep leptin treatment IDA rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 susceptibility
no_association		 ISO DNA:missense mutations:cds:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease
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)		 CTD
ClinVar
RGD		 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17449559 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B IEP
ISO		 protein:increased activity:striatum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21318773 PMID:17417741 PMID:9129714 RGD:2316771, RGD:1358484 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21815648 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO protein:decreased phosphorylation:striatum RGD PMID:25583483 RGD:401960857 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mapt microtubule-associated protein tau susceptibility ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs8070723) (human)
DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human)
DNA:SNPs, haplotypes: :multiple		 ClinVar
CTD
RGD		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Minar2 membrane integral NOTCH2 associated receptor 2 ISS MouseDO NCBI chr18:52,539,714...52,554,465
Ensembl chr18:52,539,917...52,554,461 		JBrowse link
G Mir1 microRNA 1 ISO RGD PMID:21295623 RGD:10755488 NCBI chr18:1,887,537...1,887,623 JBrowse link
G Mir106a microRNA 106a ISO RGD PMID:25553963 RGD:10450788 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir132 microRNA 132 ISO RGD PMID:25553963 RGD:10450788 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir155 microRNA 155 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28770951 NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628 		JBrowse link
G Mir19b1 microRNA 19b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr15:92,181,214...92,181,300
Ensembl chr15:92,181,214...92,181,300 		JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir210 microRNA 210 IEP RNA:increased expression: plasma extracellular vesicle RGD PMID:32326590 RGD:41404531 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir22 microRNA 22 ISO RGD PMID:21295623 RGD:10755488 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir29b1 microRNA 29b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067 		JBrowse link
G Mir301a microRNA 301a ISO RGD PMID:22003392 RGD:10755479 NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435 		JBrowse link
G Mir34b microRNA 34b ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:SNP:cds:m.9055A>G (human) RGD PMID:12618962 RGD:5490292 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 no_association ISO DNA:missense mutation:cds:m.4216T>C (human)
mRNA:decreased expression:substantia nigra, neuron		 RGD PMID:11022854 PMID:11506395 PMID:16784756 RGD:5148018, RGD:8657117, RGD:5508706 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:point mutation: :m.5460G>A (human)
DNA:missense mutation::m.5460G>A		 RGD PMID:8723226 PMID:10737123 RGD:2302313, RGD:5507832 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO
IMP		 DNA:polymorphism:exon:m.10398A>G(human)
ClinVar Annotator: match by term: Parkinson disease, resistance to
protein: decreased activity: brain: MPTP model of Parkinson disease
protein: decreased activity: striatum: rotenone model of Parkinson disease 		ClinVar
RGD		 PMID:6343397 PMID:17066297 PMID:15975594 PMID:21291942 PMID:21484267 RGD:5491206, RGD:5687692, RGD:5687691 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:missense mutations: :11253T>C, 12084C>T (human) RGD PMID:10737123 RGD:5507832 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mta1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27044752 NCBI chr 6:132,178,608...132,217,641
Ensembl chr 6:132,178,853...132,217,641 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30726997 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :1049A>G (human) RGD PMID:21070756 RGD:5508183 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Nanog Nanog homeobox treatment ISO mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell RGD PMID:24954161 RGD:9681444 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:9343502 RGD:2303766 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO RGD PMID:26605748 RGD:13504667 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726 		JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:26605748 RGD:13504667 NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 onset ISO protein:increased oxidation:brain, mitochondrion (mouse) RGD PMID:21196577 RGD:6484690 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO RGD PMID:21383081 RGD:6484691 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 susceptibility ISO DNA:polymorphism: :p.A29V RGD PMID:9570948 RGD:2302386 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RNA, protein:increased expression:neutrophil
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:26383258 PMID:11020342 PMID:11809160 RGD:5132632, RGD:1358519 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:striatum (mouse) RGD PMID:21970803 RGD:5509573 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nox1 NADPH oxidase 1 ameliorates IMP RGD PMID:23077033 RGD:329961565 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Np4 defensin NP-4 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr16:70,494,607...70,497,261
Ensembl chr16:70,342,529...70,497,202 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17188257 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 susceptibility ISO DNA:deletion:promoter: (human) RGD PMID:18314446 RGD:11073691 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 treatment IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin treatment IMP compared to wild-type and untreated RGD PMID:29530712 RGD:40924655
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO
ISS		 DNA:insertion:intron:g.7048_7049insG (human)
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive | ClinVar Annotator: match by term: Parkinson's disease
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251		 ClinVar
MouseDO
RGD		 PMID:23066323 PMID:25741868 PMID:28492532 PMID:11914402 RGD:1358553 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Ntsr1 neurotensin receptor 1 ISO RGD PMID:7700529 RGD:9743906 NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:substantia nigra, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Optn optineurin IEP protein:increased expression:substantia nigra (rat) RGD PMID:27473339 RGD:13432580 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Park7 Parkinsonism associated deglycase onset ISO
IMP		 DNA:missense mutation, deletion: :L166P
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson Disease, Recessive		 CTD
ClinVar
RGD		 PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 More... RGD:1601073, RGD:12880446, RGD:10450523 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 RGD:12880446
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility
no_association		 ISO DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)
DNA:snps:multiple (human)		 RGD PMID:17362997 PMID:21767974 RGD:5510024, RGD:5510021 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:striatum: RGD PMID:11501038 RGD:10003114 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: intron: rs11155313 RGD PMID:19429005 RGD:6483095 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP		 ClinVar Annotator: match by term: Parkinson Disease, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17010972 PMID:21366594 PMID:22043175 PMID:24374061 PMID:25149416 More... RGD:10450518, RGD:11560775, RGD:12880446, RGD:10450521 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 PMID:25421206 RGD:12880446, RGD:11560775
G Pitx3 paired-like homeodomain 3 model ISO
ISS		 OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO
RGD		 PMID:18573342 RGD:11535079 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Pla2g6 phospholipase A2 group VI onset
no_association		 ISO DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)
DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)		 RGD PMID:20938027 PMID:21368765 RGD:6482733, RGD:6482734 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit onset ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human)
DNA:missense mutations:exons:p.R853W,p.G737R(human)		 RGD PMID:15351195 PMID:23865558 PMID:16634032 RGD:8694175, RGD:8694203, RGD:8694201 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset ISO
ISS		 DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:30236862 PMID:21595954 PMID:21376232 RGD:6484270, RGD:6484271 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B IEP protein:altered localization:striate nucleus (rat) RGD PMID:18372251 RGD:10043801 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO protein:decreased tyrosine phosphorylation:brain (human) RGD PMID:24395787 RGD:8693390 NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO
IDA		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
protein:increased tyrosine-phosphorylation:substantia nigra, striatum,
DNA:deletions:exons: (human)		 CTD
RGD		 PMID:12588799 PMID:15198987 PMID:15882845 PMID:16573651 PMID:17010972 More... RGD:737763, RGD:13432567, RGD:13432563, RGD:13432207, RGD:10450521, RGD:10450518, RGD:8693409, RGD:10413859, RGD:9693725 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment ISO human gene in a rat model RGD PMID:23691265 RGD:401959749 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Ptn pleiotrophin treatment IDA RGD PMID:19615368 RGD:10044022 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:38858457 NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		JBrowse link
G Rpl14 ribosomal protein L14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064 		JBrowse link
G Rpl23a ribosomal protein L23A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr10:63,076,660...63,079,346
Ensembl chr10:63,076,066...63,079,346 		JBrowse link
G Rpl6 ribosomal protein L6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G Rps8 ribosomal protein S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268 		JBrowse link
G Rrn3 RRN3 homolog, RNA polymerase I transcription factor ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:2,129,949...2,165,381
Ensembl chr10:2,129,978...2,165,663 		JBrowse link
G RT1-Da RT1 class II, locus Da onset ISO DNA:SNP:intron: (rs3129882) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711177 PMID:20711177 RGD:5490158 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism: :HLA-DRB1*03 (human) RGD PMID:20462916 RGD:5147576 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21725169 PMID:21402140 RGD:5508763, RGD:5508766 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO protein:decreased expression:substantia nigra, neuron RGD PMID:26605748 RGD:13504667 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Septin14 septin 14 susceptibility ISO DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) RGD PMID:27115672 RGD:13504669 NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO protein:increased expression:serum, extracellular exosome (human) RGD PMID:31593110 RGD:27226691 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO DNA:polymorphism:cds:1254T>C(human) RGD PMID:21777657 PMID:19011085 RGD:5688403, RGD:5688713 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 resistance IEP
ISO
IMP		 mRNA:decreased expression:substantia nigra (rat)
CTD Direct Evidence: marker/mechanism
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
protein:decreased expression:putamen, caudate nucleus, striatum (human)		 CTD
RGD		 PMID:16112329 PMID:34774656 PMID:21291984 PMID:16339215 PMID:11463816 More... RGD:5131086, RGD:5131165, RGD:5131163, RGD:5131167, RGD:5129143 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25149416 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc38a2 solute carrier family 38, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:35728354 NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Snca synuclein alpha ISO
IDA		 human gene in a mouse model
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral spinal fluid:
DNA:missense mutation:cds:p.S129A(human)
DNA:mutation:cds:G209A(human)
DNA:mutation:cds:p.A30P(human)
protein:increased expression:astrocyte, oligodendroglial cell		 ClinVar
CTD
RGD		 PMID:11535288 PMID:12151787 PMID:12732244 PMID:12885775 PMID:14535945 More... RGD:1302527, RGD:13506723, RGD:13506646, RGD:10450521, RGD:10450518, RGD:10450517, RGD:6480197, RGD:6480196, RGD:6480094, RGD:6478794, RGD:730239 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive ClinVar PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:25741868 More... NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929 		JBrowse link
G Sncb synuclein, beta onset ISO DNA:SNP: :rs1352303(human)
protein:increased expression:hippocampus		 RGD PMID:17556099 PMID:10557341 RGD:6478793, RGD:6480095 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus RGD PMID:10557341 RGD:6480095 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:16353238 PMID:21318773 PMID:16353238 RGD:8655933 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17188257 PMID:18353766 PMID:25279756 PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spr sepiapterin reductase ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) RGD PMID:20161708 RGD:11038728 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25639775 RGD:10450521 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Taldo1 transaldolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tardbp TAR DNA binding protein ISO DNA:mutation:cds:p.A382T (human) RGD PMID:21667065 PMID:20551689 RGD:5687172, RGD:5687183 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tcn2 transcobalamin 2 ISO RGD PMID:20027219 RGD:11060125 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility
no_association		 ISO
ISS		 DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human)
DNA:missense mutation:exon:p.S12T (rs1937) (human)		 MouseDO
RGD		 PMID:19925850 PMID:17537576 PMID:18248889 RGD:14389730, RGD:6771185, RGD:6771184 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Th tyrosine hydroxylase IMP
ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (human)
protein:decreased expression:midbrain, neuron (rat)
protein:decreased expression:substantia nigra (mouse)
human gene in a rat model		 CTD
RGD		 PMID:30236862 PMID:2573072 PMID:15857400 PMID:21376343 PMID:21323909 More... RGD:5129120, RGD:2289955, RGD:5128607, RGD:5128616, RGD:5129121 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem230 transmembrane protein 230 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270108 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) RGD PMID:19780901 RGD:5130931 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868 NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27957685 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		JBrowse link
G Twnk twinkle mtDNA helicase ISS MouseDO NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640 		JBrowse link
G Vdr vitamin D receptor onset ISO DNA:polymorphisms: :rs4334089, rs2853559(human) RGD PMID:21309754 RGD:13217419 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19476518 RGD:5685606 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:25741868 PMID:26942284 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
ISS		 ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:25149416 PMID:25741868 PMID:28492532 PMID:26223426 PMID:25701813 More... RGD:10450518, RGD:10450845, RGD:10450521 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association		 ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease		 ClinVar
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
classic dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar		 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
dopamine transporter deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673 		JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271 		JBrowse link
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467 		JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821 		JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302 		JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile		 CTD
ClinVar		 PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898 		JBrowse link
early-onset Parkinson's disease 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 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:12707451 PMID:12730996 PMID:15606901 PMID:16643317 PMID:19636047 More... NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:10072423 PMID:10824074 PMID:11179010 PMID:11558785 PMID:11889248 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 PMID:26942284 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
infantile parkinsonism-dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease OMIM
ClinVar		 PMID:25741868 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 More... NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism OMIM
ClinVar		 PMID:25741868 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
juvenile-onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Juvenile-onset Parkinson disease ClinVar NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000 		JBrowse link
Kufor-Rakeb syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO
ISS		 ClinVar Annotator: match by term: Kufor-Rakeb syndrome
OMIM:606693
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide susceptibility ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:25741868 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Atxn2 ataxin 2 susceptibility ISO OMIM NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Atxn3 ataxin 3 ISO OMIM NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to OMIM
ClinVar		 PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 NCBI chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:8104867 PMID:15972314 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 PMID:28492532 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:2019586 PMID:9536098 PMID:17576681 PMID:19955343 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929 		JBrowse link
G Tbp TATA box binding protein susceptibility ISO OMIM NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Parkinson's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474 		JBrowse link
G Snca synuclein alpha ISO
ISS		 OMIM:168601
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1		 OMIM
MouseDO
ClinVar		 PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Parkinson's Disease 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18358451 PMID:18923002 PMID:19133664 PMID:19250854 PMID:19279319 More... NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715 		JBrowse link
Parkinson's Disease 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:18401856 PMID:18790661 NCBI chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to		 OMIM
CTD
ClinVar		 PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to ClinVar PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 More... NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM:612953		 OMIM
ClinVar
MouseDO		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
Parkinson's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
ISS		 ClinVar Annotator: match by term: Parkinson disease 17
OMIM:614203		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618 		JBrowse link
Parkinson's disease 19A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset OMIM
ClinVar		 PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 More... NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448 		JBrowse link
Parkinson's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 More... NCBI chr 1:49,882,671...50,305,564
Ensembl chr 1:49,882,630...50,305,430 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 ClinVar PMID:26864383 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM:600116		 OMIM
ClinVar
MouseDO		 PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Young-onset Parkinson disease ClinVar PMID:25741868 PMID:26942284 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Parkinson's disease 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 OMIM
ClinVar		 PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 More... NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
Parkinson's disease 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease 21 ClinVar PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532 NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
Parkinson's disease 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant OMIM
ClinVar		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
Parkinson's disease 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26942284 PMID:28492532 PMID:34875562 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Parkinson's disease 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM
ClinVar		 PMID:36073231 NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549 		JBrowse link
Parkinson's Disease 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab32 RAB32, member RAS oncogene family susceptibility ISO OMIM NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		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
ISS		 OMIM:605543
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4		 OMIM
MouseDO
CTD
ClinVar		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Parkinson's Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to ClinVar
OMIM		 PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
Parkinson's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399 		JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601 		JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274 		JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
OMIM:605909
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716 		JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744 		JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719 		JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859 		JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415 		JBrowse link
Parkinson's disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7
OMIM:606324		 OMIM
CTD
ClinVar
MouseDO		 PMID:1818649 PMID:9536098 PMID:12446870 PMID:12891675 PMID:12891685 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
Parkinson's disease 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO
ISS		 DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition
OMIM:607060		 ClinVar
MouseDO
OMIM
RGD		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... RGD:5508405 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
Parkinsonism-Dystonia, Childhood-Onset, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 More... NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical		 CTD
ClinVar
OMIM		 PMID:2273997 PMID:7783864 PMID:7936288 PMID:8673924 PMID:8940276 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome ClinVar PMID:25434005 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        Proteostasis Deficiencies 808
          synucleinopathy 409
            Parkinson's disease 373
              Parkinson's Disease 10 0
              Parkinson's Disease 11 1
              Parkinson's Disease 12 0
              Parkinson's Disease 13 3
              Parkinson's Disease 16 0
              Parkinson's Disease 26 1
              Parkinson's Disease 5 1
              Parkinson's Disease, Mitochondrial 3
              Parkinson's Disease, X-Linked Dominant 0
              Progressive Supranuclear Palsy Atypical 1
              amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
              dopamine transporter deficiency syndrome + 23
              early-onset Parkinson's disease + 100
              late onset Parkinson's disease + 28
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            movement disease 2630
              Parkinsonism 455
                Parkinson's disease 373
                  Parkinson's Disease 10 0
                  Parkinson's Disease 11 1
                  Parkinson's Disease 12 0
                  Parkinson's Disease 13 3
                  Parkinson's Disease 16 0
                  Parkinson's Disease 26 1
                  Parkinson's Disease 5 1
                  Parkinson's Disease, Mitochondrial 3
                  Parkinson's Disease, X-Linked Dominant 0
                  Progressive Supranuclear Palsy Atypical 1
                  amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
                  dopamine transporter deficiency syndrome + 23
                  early-onset Parkinson's disease + 100
                  late onset Parkinson's disease + 28
paths to the root