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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:Parkinsonism
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Accession:DOID:0080855 term browser browse the term
Definition:A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
Synonyms:exact_synonym: Autosomal Dominant Juvenile Parkinsonism;   Autosomal Dominant Parkinsonism;   Autosomal Recessive Juvenile Parkinson Disease;   Autosomal Recessive Parkinsonism;   Autosomal Recesssive Juvenile Parkinsonism;   Chromosome 6 Linked Autosomal Recessive Parkinsonism;   EPDF;   Experimental Parkinson Disease;   Experimental Parkinsonism;   Familial Juvenile Parkinsonism;   Familial Parkinson Disease, Autosomal Recessive;   Juvenile Parkinson Disease;   Juvenile Parkinsonism;   Juvenile Parkinsonism, Autosomal Recessive;   MPTP Induced Experimental Parkinsonism;   PDJ;   Parkinsonian Disorders;   Parkinsonian Syndrome;   Parkinsonian disorder;   Ramsay Hunt paralysis syndrome;   autosomal dominant juvenile Parkinson disease;   experimental Parkinson diseases;   parkinsonian diseases;   parkinsonian syndromes
 primary_id: MESH:D020734
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IEP RGD PMID:22634324 RGD:9588554 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 IEP RGD PMID:15857625 RGD:1598645 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 IEP RGD PMID:15857625 RGD:1598645 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Parkinsonism ClinVar NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 IDA RGD PMID:16888218 RGD:2325295 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045800 NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045800 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
JBrowse link
G Ang angiogenin ISO RGD PMID:21091473 RGD:6892711 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:11535810 RGD:13503334 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:21255222 RGD:5148006 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23046578 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15260953 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Bad BCL2-associated agonist of cell death IDA RGD PMID:23251488 RGD:10053712 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO RGD PMID:16018990 RGD:8657066 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Becn1 beclin 1 treatment ISO
IEP
RGD PMID:19864570 PMID:25424835 RGD:6483312, RGD:11558014 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Casp3 caspase 3 treatment IDA
IEP
ISO
RGD PMID:28881616 PMID:27016191 PMID:28338241 RGD:13503337, RGD:13503339, RGD:13503338 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:26612350 RGD:13503344 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:17258864 RGD:5683893 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19414037 RGD:2314672 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Comt catechol-O-methyltransferase IMP RGD PMID:15698633 RGD:2289785 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csf2 colony stimulating factor 2 IDA RGD PMID:21291297 RGD:5131508 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19368990 RGD:4891964 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IMP RGD PMID:19368990 RGD:4891964 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA:decreased expression:striatum RGD PMID:18374908 RGD:5147675 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Ddc dopa decarboxylase ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Drd2 dopamine receptor D2 IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770 RGD:6907448 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 IMP RGD PMID:12535962 RGD:1358605 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Egfr epidermal growth factor receptor IEP protein:decreased expression:striatum RGD PMID:15857400 RGD:2289955 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G En1 engrailed homeobox 1 ISO RGD PMID:17015829 RGD:5687199 NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
JBrowse link
G En2 engrailed homeobox 2 ISO RGD PMID:17015829 RGD:5687199 NCBI chr 4:7,221,096...7,226,943
Ensembl chr 4:7,221,096...7,226,943
JBrowse link
G Eno2 enolase 2 IEP RGD PMID:17532790 RGD:2293747 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Esr1 estrogen receptor 1 IDA RGD PMID:21420980 RGD:8553241 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:27228974 RGD:13801017 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A IEP mRNA, protein:increased expression:brain RGD PMID:17877381 RGD:2302074 NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29886133 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gba glucosylceramidase beta severity ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Parkinsonism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 More... RGD:5508426 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IEP
ISO
IDA
protein:decreased expression:brain
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:9266731 PMID:12213621 PMID:22186119 PMID:16018990 PMID:21865882 RGD:5686884, RGD:8657066, RGD:6218962 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IMP
IEP
mRNA:altered expression:brain RGD PMID:21865882 PMID:12210101 RGD:6218962, RGD:6218972 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Gfra2 GDNF family receptor alpha 2 IEP mRNA:decreased expression:brain RGD PMID:12210101 RGD:6218972 NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IDA RGD PMID:23783886 RGD:8662444 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gnal G protein subunit alpha L ISO RGD PMID:22539851 RGD:13513924 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
JBrowse link
G Grm8 glutamate metabotropic receptor 8 IDA RGD PMID:22546615 RGD:6771180 NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha IEP protein:decreased expression:striatum RGD PMID:18805403 RGD:10401814 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:22721943 PMID:20951685 RGD:5128840 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24169105 RGD:10755712 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO RGD PMID:15585408 RGD:5147599
G Hspa9 heat shock protein family A (Hsp70) member 9 IEP protein:decreased expression:striatum RGD PMID:21542017 RGD:6784518 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26558463 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Il1b interleukin 1 beta IMP protein:increased expression:hypothalamus RGD PMID:17520785 RGD:1626658 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 IEP mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 IEP mRNA, protein:increased expression:striatum, hippocampus (rat) RGD PMID:15857625 RGD:1598645 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23046578 PMID:25017139 PMID:26558463 PMID:20729864 RGD:5508414 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase IEP RGD PMID:16529858 RGD:1581410 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
JBrowse link
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO RGD PMID:19641128 RGD:2325813 NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
JBrowse link
G Mapt microtubule-associated protein tau treatment ISO
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10802785 PMID:19458322 PMID:27228974 RGD:13801017 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:22498097 RGD:8693688 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:15075439 RGD:13204850 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I IEP mRNA:decreased expression:thalamus RGD PMID:17148469 RGD:2302296 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:20089925 RGD:10040992 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEP RGD PMID:20403401 RGD:13824972 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IMP RGD PMID:18534259 RGD:2302392 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:19694610 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:23967645 RGD:7257596 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 treatment IEP RGD PMID:31408200 RGD:124713575 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Parkinson Disease, Juvenile 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 treatment ISO
IEP
IMP
IDA
ClinVar Annotator: match by term: Parkinson Disease, Juvenile
protein:decreased expression:brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:23046578 PMID:26558463 PMID:16860563 PMID:22710069 PMID:18373560 More... RGD:1601076, RGD:13463458, RGD:13463452, RGD:13210569, RGD:13462067 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17640816 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pde1b phosphodiesterase 1B IEP RGD PMID:15305867 RGD:2312524 NCBI chr 7:134,627,378...134,654,581
Ensembl chr 7:134,627,322...134,654,580
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9930741 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 More... RGD:13210569 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Pnoc prepronociceptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26687234 NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923349 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:22246294 PMID:21376232 PMID:22040668 RGD:6484262, RGD:6484271, RGD:6484267 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:15681813 NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by OMIM:600116
ClinVar Annotator: match by term: Juvenile parkinsonism
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
CTD
PMID:10072423 PMID:10894217 PMID:11254447 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 Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18243799 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:240179 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IDA
mRNA, protein:increased expression:neostriatum RGD PMID:21376018 PMID:16781689 PMID:15306248 RGD:5508224, RGD:5688269, RGD:5688225 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ranbp2 RAN binding protein 2 severity ISO RGD PMID:22821000 RGD:9835348 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IMP RGD PMID:18534259 RGD:2302392 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Ret ret proto-oncogene IEP mRNA:altered expression:brain RGD PMID:12210101 RGD:6218972 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Rgs4 regulator of G-protein signaling 4 treatment ISO RGD PMID:25844489 RGD:13524517 NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068
JBrowse link
G Rgs9 regulator of G-protein signaling 9 treatment IEP
ISO
protein:decreased expression:striatum RGD PMID:20561938 PMID:18160641 PMID:21963945 RGD:13524532, RGD:13524864, RGD:13524862 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link
G Shh sonic hedgehog signaling molecule treatment IMP RGD PMID:25030123 RGD:12859032 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO
IDA
IMP
RGD PMID:19011085 PMID:20125122 PMID:19011085 RGD:5688713, RGD:5688715, RGD:5688713 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
JBrowse link
G Slc17a8 solute carrier family 17 member 8 IEP protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon RGD PMID:17435391 RGD:9999153 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO CTD Direct Evidence: therapeutic CTD PMID:16269145 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220508 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
G Slc6a3 solute carrier family 6 member 3 IEP protein:decreased expression:striatum RGD PMID:15680936 RGD:1625663 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP RGD PMID:20447560 RGD:4889474 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Snca synuclein alpha ISO mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20464527 PMID:22319455 PMID:23046578 PMID:23295396 PMID:26075822 More... RGD:6478799, RGD:6478802 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:15147505 RGD:6478802 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase IDA RGD PMID:16529858 RGD:1581410 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:27541164 PMID:28492532 PMID:28663785 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:increased expression:striatum RGD PMID:22040668 RGD:6484267 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link
G Th tyrosine hydroxylase susceptibility ISO
IEP
Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L
protein:decreased expression:striatum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8817341 PMID:11246459 PMID:7814018 PMID:20561938 RGD:1601634, RGD:13524532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21831964 PMID:28338241 RGD:7247422, RGD:13503338 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:21831964 RGD:7247422 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Parkinson Disease, Juvenile ClinVar NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Parkinsonism ClinVar PMID:25741868 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
JBrowse link
G Ucn urocortin IDA RGD PMID:21362449 RGD:5508188 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IDA RGD PMID:20302395 RGD:2325190 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
G Vip vasoactive intestinal peptide IMP RGD PMID:15808913 RGD:5685601 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:25741868 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
Kufor-Rakeb syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Kufor-Rakeb syndrome
ClinVar Annotator: match by term: Parkinson disease 9
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606693
OMIM
ClinVar
CTD
PMID:495089 PMID: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 Adh1 alcohol dehydrogenase 1 (class I) ISO OMIM NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
JBrowse link
G Atxn2 ataxin 2 ISO OMIM NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr 4:5,452,683...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 Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma, 1 ISO ClinVar Annotator: match by OMIM:614251
ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 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 chr16:52,030,853...52,037,612
Ensembl chr16:52,010,194...52,038,204
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
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 Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar PMID:7898705 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 More... NCBI chr 7:122,826,712...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: Parkinson disease, late-onset OMIM
ClinVar
PMID:25741868 PMID:28492532 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:7624338 PMID:15972314 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by OMIM:168600
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
JBrowse link
G Psap prosaposin susceptibility ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:32201884 NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G Sncaip synuclein, alpha interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD
ClinVar
PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929
JBrowse link
G Tbp TATA box binding protein ISO OMIM NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
JBrowse link
Lewy body dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Gba glucosylceramidase beta ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Lewy body dementia
ClinVar Annotator: match by term: Diffuse Lewy body disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation:cds:multiple (human)
ClinVar
CTD
OMIM
RGD
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 More... RGD:5508424, RGD:12791014 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Lewy Body Disease
ClinVar Annotator: match by term: Lewy body dementia
protein:decreased expression:cerebral spinal fluid:
CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
ClinVar
CTD
OMIM
RGD
PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
ClinVar Annotator: match by OMIM:127750
protein:increased expression:hippocampus
ClinVar
OMIM
RGD
PMID:15365127 PMID:15365127 PMID:10557341 PMID:15483670 RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
RGD PMID:20697047 PMID:10557341 PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
MPTP Poisoning term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351185 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26364587 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
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 chr12:19,407,359...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 1:53,884,711...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 chr15:24,317,733...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 B2m beta-2 microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970
JBrowse link
G Bdnf brain-derived neurotrophic factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:substantia nigra pars compacta:
CTD
RGD
PMID:19276553 PMID:15118671 PMID:16565926 PMID:10208589 RGD:1331525, RGD:10059346, RGD:8657025 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cast calpastatin ISO DNA:SNP:intron: (rs1559085) (human)
protein:decreased expression:substantia nigra, dopaminergic neuron
RGD PMID:20127884 PMID:10722997 RGD:5509800, RGD:5683320 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930 PMID:10668930 RGD:1626086, RGD:1626086 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 9:26,673,916...27,022,139
Ensembl chr 9:26,675,391...27,022,106
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:48,630,993...48,742,835
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 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 Crp C-reactive protein ISO RGD PMID:22426659 RGD:6482307 NCBI chr13:85,131,635...85,175,179
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 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
ISO
protein:increased expression:striatum (rat)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:8558425 PMID:18289173 RGD:2311585 NCBI chr 8:49,708,903...49,772,888
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 chr14:72,489,347...72,490,774
Ensembl chr14:72,489,347...72,490,774
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
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...218,302,370
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 chr14:91,176,931...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 DNA:SNP:enhancer: (rs1438852) (human) 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...92,744,124
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 Gba glucosylceramidase beta no_association
onset
ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar Annotator: match by term: 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 3:144,454,306...144,458,757
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 2:56,893,992...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 Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15824117 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chr 1:201,581,480...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...9,192,644
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 1:158,271,993...158,273,371
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 2:174,551,866...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
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
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 2:36,694,174...36,695,442
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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Il1b interleukin 1 beta ISO
IDA
RGD PMID:12070246 PMID:23159314 RGD:1358742, RGD:7175549 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lep leptin treatment IDA rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 susceptibility
no_association
ISO DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Parkinson disease
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human)
DNA:mutation: :p.R1441G (human)
DNA:missense mutation:cds:p.R1398H (human)
DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human)
DNA:missense mutation:cds:p.G2019S (human)
ClinVar
CTD
RGD
PMID:16172858 PMID:16633828 PMID:17019612 PMID:17388990 PMID:17659642 More... RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 NCBI chr 7:122,826,712...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 Mapt microtubule-associated protein tau susceptibility ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs8070723) (human)
DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human)
DNA:SNPs, haplotypes: :multiple
CTD
RGD
PMID:19915575 PMID:20711177 PMID:19879020 PMID:22221882 PMID:18785640 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
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 no_association ISO DNA:missense mutation:cds:m.4216T>C (human)
mRNA:decreased expression:substantia nigra, neuron
RGD PMID:11022854 PMID:11506395 PMID:16784756 RGD:5148018, RGD:8657117, RGD:5508706 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:point mutation: :m.5460G>A (human)
DNA:missense mutation::m.5460G>A
RGD PMID:8723226 PMID:10737123 RGD:2302313, RGD:5507832 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO
IMP
DNA:polymorphism:exon:m.10398A>G(human)
ClinVar Annotator: match by term: Parkinson disease, resistance to
protein: decreased activity: brain: MPTP model of Parkinson disease
protein: decreased activity: striatum: rotenone model of Parkinson disease
ClinVar
RGD
PMID:6343397 PMID:17066297 PMID:15975594 PMID:21291942 PMID:21484267 RGD:5491206, RGD:5687692, RGD:5687691 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:missense mutations: :11253T>C, 12084C>T (human) RGD PMID:10737123 RGD:5507832 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mta1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27044752 NCBI chr 6:132,178,608...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 1:243,408,659...243,413,701
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 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 reductase 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)
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
MouseDO
ClinVar
RGD
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...167,656,377
Ensembl chr 3:167,606,215...167,656,377
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Parkinson's disease ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:substantia nigra, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Optn optineurin IEP protein:increased expression:substantia nigra (rat) RGD PMID:27473339 RGD:13432580 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson Disease, Dominant ClinVar PMID:25741868 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
JBrowse link
G Park7 Parkinsonism associated deglycase onset ISO
IMP
DNA:missense mutation, deletion: :L166P
ClinVar Annotator: match by term: Parkinson Disease, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
CTD
RGD
PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 More... RGD:1601073, RGD:12880446, RGD:10450523 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24157858 RGD:12880446
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility
no_association
ISO DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)
DNA:snps:multiple (human)
RGD PMID:17362997 PMID:21767974 RGD:5510024, RGD:5510021 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:striatum: RGD PMID:11501038 RGD:10003114 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: intron: rs11155313 RGD PMID:19429005 RGD:6483095 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
JBrowse link
G Pink1 PTEN induced kinase 1 ISO
IMP
ClinVar Annotator: match by term: Parkinson's disease
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:11560775, RGD:12880446, RGD:10450521, RGD:10450518 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 DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human)
CTD Direct Evidence: marker/mechanism
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 Ptn pleiotrophin treatment IDA RGD PMID:19615368 RGD:10044022 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
JBrowse link
G Rpl14 ribosomal protein L14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr 8:120,286,035...120,288,912
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
protein:decreased expression:putamen, caudate nucleus, striatum (human)
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
CTD
RGD
PMID:16112329 PMID:21291984 PMID:16269145 PMID:16421508 PMID:11463816 More... RGD:5131086, RGD:5129143, RGD:5131167, RGD:5131163, RGD:5131165 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 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 Annotator: match by term: Parkinson's disease
ClinVar PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929
JBrowse link
G Sncb synuclein, beta onset ISO DNA:SNP: :rs1352303(human)
protein:increased expression:hippocampus
RGD PMID:17556099 PMID:10557341 RGD:6478793, RGD:6480095 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus RGD PMID:10557341 RGD:6480095 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:15824117 PMID:16353238 PMID:21318773 PMID:16353238 RGD:8655933 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17188257 PMID:18353766 PMID:25279756 PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spr sepiapterin reductase ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) RGD PMID:20161708 RGD:11038728 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
JBrowse link
G Synj1 synaptojanin 1 ISO RGD PMID:25639775 RGD:10450521 NCBI chr11:30,192,629...30,269,277
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 Tdgf1 teratocarcinoma-derived growth factor 1 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 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
human gene in a rat model
protein:decreased expression:substantia nigra (mouse)
protein:decreased expression:midbrain, neuron (rat)
protein:decreased expression:striatum (human)
CTD
RGD
PMID:30236862 PMID:2573072 PMID:9853519 PMID:21323909 PMID:21376343 More... RGD:5129120, RGD:5129121, RGD:5128616, RGD:5128607, RGD:2289955 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 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:26595808 PMID:28492532 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 OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 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 NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO RGD PMID:24825319 RGD:13504672 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
JBrowse link
G Vdr vitamin D receptor onset ISO DNA:polymorphisms: :rs4334089, rs2853559(human) RGD PMID:21309754 RGD:13217419 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19476518 RGD:5685606 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease ClinVar PMID:26942284 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson's disease
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25149416 PMID:25741868 PMID:25701813 PMID:25639775 PMID:26223426 RGD:10450845, RGD:10450521, RGD:10450518 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 Snca synuclein alpha ISO ClinVar Annotator: match by term: Parkinson disease 1, autosomal dominant
ClinVar Annotator: match by OMIM:168601
OMIM
ClinVar
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 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 OMIM:607688
ClinVar Annotator: match by term: Parkinson disease 11
ClinVar
OMIM
PMID:18358451 PMID:18923002 PMID:19250854 PMID:19279319 PMID:19449032 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 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 ClinVar Annotator: match by term: Parkinson disease 13
ClinVar Annotator: match by OMIM:610297
OMIM
ClinVar
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 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 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 ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
ClinVar Annotator: match by OMIM:612953
OMIM
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20619503 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678 PMID:19038853 PMID:20603184 PMID:23352116 PMID:24112787 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 Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar 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 ClinVar Annotator: match by term: Parkinson disease 17 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763483 PMID:22517097 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: Parkinson disease 19a, juvenile-onset
ClinVar Annotator: match by term: Parkinson disease 19b, early-onset
OMIM
ClinVar
PMID:2256350 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25741868 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 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 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Pacrg parkin coregulated ISO ClinVar Annotator: match by term: Parkinson disease 2
ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar PMID:9536098 PMID:16328510 PMID:17576681 PMID:20399249 PMID:25741868 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: 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 ClinVar Annotator: match by term: Parkinson disease 2
ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM
ClinVar
PMID:7565830 PMID:9536098 PMID:9560156 PMID:9731209 PMID:9802278 More... NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
Parkinson's disease 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:29,641,051...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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G RGD1562726 similar to Putative protein C21orf62 homolog ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset ClinVar PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset OMIM
ClinVar
PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 More... NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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: Parkinson disease 20, early-onset 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:26067113 PMID:32068847 NCBI chr 9:94,500,439...94,501,110
Ensembl chr 9:94,500,432...94,501,128
JBrowse link
Parkinson's disease 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Parkinson disease 23, autosomal recessive early-onset ClinVar
OMIM
PMID:25741868 PMID:26942284 PMID:28492532 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO OMIM NCBI chr 4:89,696,420...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 susceptibility ISO ClinVar Annotator: match by term: Parkinson disease 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,033...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 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset 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 Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by synonym: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:161,353,718...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 6, autosomal recessive early-onset
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar Annotator: match by term: PINK1-Related Parkinsonism
ClinVar Annotator: match by OMIM:605909
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2345993 PMID:2546640 PMID:9536098 PMID:15087508 PMID:15349860 More... NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
Parkinson's disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease 7
ClinVar Annotator: match by term: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606324
OMIM
ClinVar
CTD
PMID:1818649 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
Parkinson's disease 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant
ClinVar Annotator: match by OMIM:607060
ClinVar
OMIM
RGD
PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... RGD:5508405 NCBI chr 7:122,826,712...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 Adh1 alcohol dehydrogenase 1 (class I) 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 WITH POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: PARKINSONISM WITH POLYNEUROPATHY ClinVar
OMIM
PMID:33141179 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
Parkinsonism-Dystonia, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clptm1l CLPTM1-like ISO ClinVar Annotator: match by term: Infantile dystonia-parkinsonism 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 Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile dystonia-parkinsonism
CTD
ClinVar
PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16212992 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Infantile dystonia-parkinsonism ClinVar PMID:21112253 PMID:28492532 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Parkinsonism-Dystonia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1 OMIM
ClinVar
PMID:19478460 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 More... NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
Parkinsonism-Dystonia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2
ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease
ClinVar Annotator: match by term: Abnormal dense granules
ClinVar
OMIM
PMID:23363473 PMID:32581362 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325
JBrowse link
Perry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Perry syndrome
ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression
ClinVar Annotator: match by OMIM:168605
ClinVar
OMIM
RGD
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 PMID:17824900 More... RGD:5534575, RGD:5535748 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO OMIM NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
secondary Parkinson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285144 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30410011 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27317300 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:19909981 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25634431 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457621 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993444 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Rgs2 regulator of G-protein signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347610 NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: therapeutic CTD PMID:11771942 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:28595911 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Parkinsonism, early onset with mental retardation ClinVar PMID:25434005 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
X-linked parkinsonism-spasticity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by OMIM:300911 OMIM
ClinVar
PMID:20629132 PMID:23595882 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked ClinVar PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          movement disease 1417
            Parkinsonism 376
              Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 0
              Lewy body dementia + 38
              PARKINSONISM WITH POLYNEUROPATHY 1
              Parkinson's disease + 297
              Perry syndrome 1
              X-linked parkinsonism-spasticity syndrome 2
              secondary Parkinson disease + 14
              vascular Parkinsonism 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            movement disease 1417
              Parkinsonism 376
                Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 0
                Lewy body dementia + 38
                PARKINSONISM WITH POLYNEUROPATHY 1
                Parkinson's disease + 297
                Perry syndrome 1
                X-linked parkinsonism-spasticity syndrome 2
                secondary Parkinson disease + 14
                vascular Parkinsonism 0
paths to the root