RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: synucleinopathy
Accession: DOID:0050890
browse the term
Definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)
Synonyms: exact_synonym: α-synucleinopathy; a-synucleinopathies; a-synucleinopathy; alpha synuclein pathologies; alpha synuclein pathology; alpha synucleinopathies; alpha-synucleinopathy; synucleinopathies
primary_id: MESH:D000080874
For additional species annotation, visit the
Alliance of Genome Resources .
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Dctn1
dynactin subunit 1
IEP
RGD
PMID:19295143
RGD:11049591
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
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Dctn2
dynactin subunit 2
IEP
RGD
PMID:19295143
RGD:11049591
NCBI chr 7:70,555,953...70,571,433
Ensembl chr 7:70,556,019...70,572,614
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Kif1a
kinesin family member 1A
IEP
RGD
PMID:19295143
RGD:11049591
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Kif1b
kinesin family member 1B
IEP
protein:decreased expression:striatum, membrane (rat)
RGD
PMID:19295143
RGD:11049591
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Park7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Guam disease
ClinVar
PMID:25741868
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
susceptibility no_association
ISO
DNA:mutation:cds: p.T1482I (human) CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:16051700 , PMID:19405049
RGD:5685005 , RGD:5685008
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia
ClinVar
PMID:12205655 PMID:14520668 PMID:14595656 PMID:14684687 PMID:15576045 PMID:16337195
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Atp13a2
ATPase cation transporting 13A2
ISO
ClinVar Annotator: match by term: Kufor-Rakeb syndrome ClinVar Annotator: match by term: Parkinson disease 9 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:606693
OMIM ClinVar CTD
PMID:495089 PMID:12169656 PMID:16964263 PMID:17485642 PMID:18075584 PMID:18075585 PMID:18414213 PMID:19015489 PMID:19085912 PMID:19360675 PMID:19458722 PMID:19705361 PMID:20137506 PMID:20816920 PMID:20853184 PMID:21060012 PMID:21094623 PMID:21542062 PMID:21665991 PMID:21696388 PMID:21714071 PMID:21724849 PMID:22022275 PMID:22296644 PMID:22388936 PMID:22743658 PMID:22768177 PMID:22847264 PMID:22995991 PMID:23499937 PMID:24088041 PMID:24399444 PMID:25374329 PMID:25466404 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27294386 PMID:28492532 PMID:29903538
NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
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Adh1
alcohol dehydrogenase 1 (class I)
ISO
OMIM
NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
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Atxn2
ataxin 2
ISO
OMIM
NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
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Dnajb6
DnaJ heat shock protein family (Hsp40) member B6
ISO
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar
NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108
NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
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Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
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Eif4g1
eukaryotic translation initiation factor 4 gamma, 1
ISO
ClinVar Annotator: match by OMIM:614251 ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar OMIM
PMID:21907011 PMID:23408866 PMID:25368108
NCBI chr11:83,907,659...83,927,683
Ensembl chr11:83,908,109...83,926,524
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Fgf20
fibroblast growth factor 20
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:18252210 PMID:19133659
NCBI chr16:55,152,748...55,159,352
Ensembl chr16:55,152,748...55,159,352
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Gba
glucosylceramidase beta
ISO
ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO ClinVar Annotator: match by term: Parkinson disease, late-onset
OMIM ClinVar
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16061944 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25127542 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27865684 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30662625 PMID:33223529
NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
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Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:A>G313 (human)
RGD
PMID:17250723
RGD:5148021
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
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Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:24660942 PMID:26467025 PMID:27111571 PMID:28492532
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Mapt
microtubule-associated protein tau
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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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
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Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
ClinVar Annotator: match by OMIM:168600 ClinVar Annotator: match by term: Parkinson disease, late-onset CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 PMID:24126627 PMID:25741868 PMID:28492532
NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
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Nubpl
nucleotide binding protein-like
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
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Park7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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Podxl
podocalyxin-like
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:26864383
NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
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Psap
prosaposin
ISO
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar
NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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RT1-Da
RT1 class II, locus Da
ISO
DNA:SNP:intron: (rs3129882) (human)
RGD
PMID:21791235
RGD:5490156
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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Sncaip
synuclein, alpha interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD ClinVar
PMID:12761037 PMID:18366718 PMID:28492532
NCBI chr18:47,739,284...47,877,679
Ensembl chr18:47,739,140...47,877,676
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Tbp
TATA box binding protein
ISO
OMIM
NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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Ambra1
autophagy and beclin 1 regulator 1
ISO
protein:increased expression:brain
RGD
PMID:27875637
RGD:14390070
NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple system atrophy
CTD ClinVar
PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569
NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:precentral gyrus (human)
RGD
PMID:23372841
RGD:8663486
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:22281106
RGD:5688775
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Igf2
insulin-like growth factor 2
severity
ISO
RGD
PMID:20683839
RGD:5509960
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Klk6
kallikrein related-peptidase 6
ISO
RGD
PMID:12928483
RGD:1358597
NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
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Mapt
microtubule-associated protein tau
ISO
ClinVar Annotator: match by term: Multiple system atrophy
ClinVar
PMID:25741868
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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Mir96
microRNA 96
ISO
RNA:increased expression:frontal cortex:
RGD
PMID:24304186 , PMID:24304186
RGD:11553929 , RGD:11553929
NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
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Mt3
metallothionein 3
ISO
protein: increased expression: visual cortex
RGD
PMID:20039155
RGD:6480516
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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Slc1a1
solute carrier family 1 member 1
ISO
protein:decreased expression:frontal cortex:
RGD
PMID:24304186 , PMID:24304186
RGD:11553929 , RGD:11553929
NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
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Slc6a6
solute carrier family 6 member 6
ISO
protein:decreased expression:frontal cortex:
RGD
PMID:24304186 , PMID:24304186
RGD:11553929 , RGD:11553929
NCBI chr 4:123,638,619...123,713,469
Ensembl chr 4:123,642,210...123,713,464
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Snca
synuclein alpha
ISO
protein:increased expression:oligodendrocyte
RGD
PMID:9749615
RGD:6480091
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Aptx
aprataxin
ISO
DNA:missense mutations:cds:725G>A,457A>G(human)
RGD
PMID:21465257
RGD:10054301
NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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Tsen54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:29410950
NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
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A2m
alpha-2-macroglobulin
onset
ISO
DNA:polymorphism: :p.I1000V (human)
GAD RGD
PMID:15118671 , PMID:12133586
RGD:1331525 , RGD:10046014
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20558393
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO IEP
protein:increased phosphorylation:striatum: protein:increased expression:brain:
RGD
PMID:20823226 , PMID:24412932 , PMID:24412932
RGD:8693409 , RGD:8693592 , RGD:8693592
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
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Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ache
acetylcholinesterase
ISO
RGD
PMID:19474411
RGD:5509846
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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Adarb2
adenosine deaminase, RNA-specific, B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr17:58,098,979...58,653,137
Ensembl chr17:58,104,559...58,301,260
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Adcy5
adenylate cyclase 5
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
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Adh7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
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Afdn
afadin, adherens junction formation factor
ISO
protein:decreased expression: caudate-putamen, substantia nigra
RGD
PMID:23393160
RGD:13838733
NCBI chr 1:53,713,873...53,861,918
Ensembl chr 1:53,715,693...53,802,658
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Agtr1a
angiotensin II receptor, type 1a
ISO
protein:decreased expression:caudate nucleus,putamen,substantia nigra:
RGD
PMID:8666063
RGD:10047397
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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Akt1
AKT serine/threonine kinase 1
no_association
ISO
DNA:SNPs:introns:multiple (human) DNA:SNPs, haplotype:introns:multiple (human) protein:altered expression:brain
RGD
PMID:21741444 , PMID:18395980 , PMID:19800394
RGD:5509064 , RGD:5509076 , RGD:5509074
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Ang
angiogenin
ISO
DNA:mutations:multiple
RGD
PMID:22190368
RGD:6892707
NCBI chr15:28,022,926...28,028,636
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Anxa5
annexin A5
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:10584677
RGD:10053728
NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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Apaf1
apoptotic peptidase activating factor 1
ISO
RGD
PMID:24835407
RGD:13503333
NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
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Apoa1
apolipoprotein A1
ISO
protein: altered expression: cerebrospinal fluid: 2 different isoforms
RGD
PMID:20085559
RGD:5508216
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Apoe
apolipoprotein E
ISO
protein:increased expression:neuron:
RGD
PMID:21907175
RGD:7771591
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Arpc3
actin related protein 2/3 complex, subunit 3
treatment
IDA
RGD
PMID:20713051
RGD:11049454
NCBI chr12:39,653,951...39,667,817
Ensembl chr12:39,653,953...39,667,849
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Atg7
autophagy related 7
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
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Atm
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:cingulate gyrus
RGD
PMID:20502937
RGD:10053605
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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Atp13a2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23628791 PMID:25149416 , PMID:26223426
RGD:10450518
NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
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B2m
beta-2 microglobulin
ISO
protein:increased expression:corpus striatum
RGD
PMID:7605592
RGD:6482706
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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Bag5
BAG cochaperone 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28348719
NCBI chr 6:136,180,640...136,185,651
Ensembl chr 6:136,182,006...136,185,651
G
Bdnf
brain-derived neurotrophic factor
no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) protein:decreased expression:substantia nigra pars compacta:
CTD
PMID:19276553 , PMID:15118671 , PMID:16565926 , PMID:10208589
RGD:1331525 , RGD:10059346 , RGD:8657025
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:16114020
RGD:7207224
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
G
Bst1
bone marrow stromal cell antigen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19915576
NCBI chr14:71,798,218...71,814,540
Ensembl chr14:71,798,651...71,814,523
G
Casp3
caspase 3
treatment
ISO
RGD
PMID:16505307
RGD:13503345
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp9
caspase 9
ISO
protein:increased activity:blood, leukocyte
RGD
PMID:16505307
RGD:13503345
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
G
Cast
calpastatin
ISO
DNA:SNP:intron: (rs1559085) (human) protein:decreased expression:substantia nigra, dopaminergic neuron
RGD
PMID:20127884 , PMID:10722997
RGD:5509800 , RGD:5683320
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
G
Cck
cholecystokinin
no_association
ISO
RGD
PMID:10668930 , PMID:10668930
RGD:1626086 , RGD:1626086
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
G
Ccn2
cellular communication network factor 2
IEP
protein:increased expression:substantia nigra (rat)
RGD
PMID:19463894
RGD:2314505
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
G
Ceacam6
CEA cell adhesion molecule 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 1:81,683,500...81,701,230
Ensembl chr 1:81,683,463...81,701,317
G
Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 4:74,700,539...77,025,463
G
Col19a1
collagen type XIX alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 9:30,508,003...30,864,836
Ensembl chr 9:30,515,089...30,844,199
G
Cox10
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159062 PMID:25758665
NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
G
Crh
corticotropin releasing hormone
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:3502064
RGD:5508835
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
G
Crp
C-reactive protein
ISO
RGD
PMID:22426659
RGD:6482307
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association susceptibility
ISO
DNA:missense mutation:cds:p.I462V (human) DNA:polymorphisms (human)
RGD
PMID:11793160 , PMID:8872868 , PMID:11484167
RGD:5147678 , RGD:5147681 , RGD:5147679
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14991823 PMID:15174030
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16510128
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
G
Dbh
dopamine beta-hydroxylase
susceptibility
ISO
protein:increased expression:frontal cortex (human) DNA:snp:5' utr:g.-1021C>T (human)
RGD
PMID:19276553 , PMID:14991826
RGD:5129515 , RGD:1358583
NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
G
Dbn1
drebrin 1
treatment
IEP
levodopainduced; protein:increased expression:striatum:
RGD
PMID:23241013
RGD:10398811
NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
G
Ddc
dopa decarboxylase
IEP ISO IMP
protein:altered expression:arcuate nucleus ((rat) CTD Direct Evidence: therapeutic human gene in a rat model
CTD
PMID:2969953 PMID:11445284 , PMID:15935614 , PMID:12703659 , PMID:9853519
RGD:5129231 , RGD:4139893 , RGD:5129121
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
G
Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17005863
NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
G
Ddost
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
ISO
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar
NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
G
Dlg1
discs large MAGUK scaffold protein 1
IEP
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles
RGD
PMID:15703272
RGD:2306834
NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
G
Dlg4
discs large MAGUK scaffold protein 4
IEP
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles
RGD
PMID:15703272
RGD:2306834
NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
G
Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
RGD
PMID:25701813
RGD:10450845
NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
G
Dnajc6
DnaJ heat shock protein family (Hsp40) member C6
ISO
RGD
PMID:25639775
RGD:10450521
NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
G
Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28215578
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
G
Draxin
dorsal inhibitory axon guidance protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 5:164,913,085...164,943,012
Ensembl chr 5:164,913,906...164,927,869
G
Drd1
dopamine receptor D1
treatment
IEP ISO IDA
protein:decreased expression:striatum (rat) CTD Direct Evidence: therapeutic
CTD
PMID:8558425 , PMID:16365282 , PMID:23041629
RGD:7248455 , RGD:7248595
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
G
Drd2
dopamine receptor D2
IEP ISO
protein:increased expression:striatum (rat) CTD Direct Evidence: therapeutic
CTD
PMID:8558425 , PMID:18289173
RGD:2311585
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
G
Drd3
dopamine receptor D3
severity
ISO
protein:increased expression:blood, lymphocyte mRNA:decreased expression:blood, lymphocyte
RGD
PMID:10495037 , PMID:8618685
RGD:5686418 , RGD:5686419
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
G
Drd5
dopamine receptor D5
ISO
protein:increased expression:blood, lymphocyte
RGD
PMID:10495037
RGD:5686418
NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
G
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
G
Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Egf
epidermal growth factor
disease_progression
ISO
RGD
PMID:21520231
RGD:10059679
NCBI chr 2:68,820,616...68,895,537
G
Egfr
epidermal growth factor receptor
ISO
protein:decreased expression:forebrain
RGD
PMID:15857400
RGD:2289955
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
RGD
PMID:15567511
RGD:10395348
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
G
En1
engrailed homeobox 1
ISO
DNA:SNP:enhancer: (rs1438852) (human)
RGD
PMID:19345444
RGD:5687197
NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
G
Eno2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
G
Ephx1
epoxide hydrolase 1
no_association
ISO
DNA:missense mutation:exon:p.Y113H (human) DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)
RGD
PMID:10720475 , PMID:11692079
RGD:5490167 , RGD:5688390
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
G
Ephx2
epoxide hydrolase 2
no_association
ISO
DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human)
RGD
PMID:11692079
RGD:5688390
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:19727138
RGD:10400901
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
protein:decreased expression:forebrain
RGD
PMID:15857400
RGD:2289955
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
G
Esr2
estrogen receptor 2
onset
ISO
DNA:polymorphism: :1730A>G(human)
RGD
PMID:15219649
RGD:5508776
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
Fas
Fas cell surface death receptor
ISO
protein:decreased expression:neurones of the substantia nigra pars:
RGD
PMID:11054182
RGD:12903948
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Faslg
Fas ligand
IEP ISO
protein:increased expression:substantia nigra pars compacta, striatum (rat) protein:decreased expression:neurones of the substantia nigra pars:
RGD
PMID:17959308 , PMID:11054182
RGD:2290172 , RGD:12903948
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
G
Fbp1
fructose-bisphosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
G
Fbxo7
F-box protein 7
ISO
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar
PMID:26223426
RGD:10450518
NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
G
Fcer2
Fc fragment of IgE receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
G
Fez1
fasciculation and elongation protein zeta 1
IEP
RGD
PMID:23888906
RGD:13208826
NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
G
Fgb
fibrinogen beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23233872
NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
G
Gak
cyclin G associated kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20711177
NCBI chr14:2,100,104...2,174,332
Ensembl chr14:2,100,106...2,174,318
G
Gba
glucosylceramidase beta
no_association onset
ISO
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Parkinson's disease ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) DNA:missense mutation:cds:p.N370S (human) DNA:missense mutations:cds:p.E326K, p.T369M (human)
ClinVar CTD
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16061944 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17620502 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21106416 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22713811 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25064009 PMID:25127542 PMID:25249066 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27123474 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27872820 PMID:28492532 PMID:28686011 PMID:28779532 PMID:28923368 PMID:29527153 PMID:30662625 PMID:33223529 , PMID:21242499 , PMID:24126159 , PMID:25639775 , PMID:26223426 , PMID:19945510 , PMID:20528910 , PMID:20947659
RGD:5508422 , RGD:12791016 , RGD:10450521 , RGD:10450518 , RGD:5508429 , RGD:5508427 , RGD:5508425
NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
G
Gdf5
growth differentiation factor 5
treatment
ISO IEP
mRNA:increased expression:striatum:
RGD
PMID:22436046 , PMID:24373993
RGD:12738227 , RGD:12738228
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
G
Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:putamen CTD Direct Evidence: therapeutic
CTD
PMID:11031079 PMID:16324109 , PMID:16644101
RGD:6218968
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
G
Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
G
Gjc2
gap junction protein, gamma 2
treatment
IEP
RGD
PMID:21561882
RGD:13208520
NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
G
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
G
Gpr37
G protein-coupled receptor 37
ISO
RGD
PMID:14991825
RGD:13504666
NCBI chr 4:51,822,163...51,844,228
Ensembl chr 4:51,822,153...51,844,331
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15824117
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
G
Grk2
G protein-coupled receptor kinase 2
IEP
Protein: decreased expression: brain
RGD
PMID:17996024
RGD:5685370
NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
G
Grk3
G protein-coupled receptor kinase 3
IEP
protein:decreased expression:caudate putamen (rat)
RGD
PMID:17996024
RGD:5685370
NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
G
Grk5
G protein-coupled receptor kinase 5
no_association
ISO IEP
DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 protein: decreased expression: brain
RGD
PMID:21046632 , PMID:17996024 , PMID:17125886
RGD:5688382 , RGD:5685370 , RGD:5688384
NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
G
Grk6
G protein-coupled receptor kinase 6
ISO IEP
human gene in rat model protein: decreased expression: brain
RGD
PMID:22090514 , PMID:17996024
RGD:5684916 , RGD:5685370
NCBI chr17:9,705,917...9,721,921
Ensembl chr17:9,703,453...9,721,574
G
Grn
granulin precursor
no_association
ISO
protein:decreased expression:serum DNA:SNP:3' utr:*78C>T (rs5848) (human)
RGD
PMID:23398167 , PMID:19473366
RGD:10401642 , RGD:10401644
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
IDA
RGD
PMID:23094836
RGD:10045553
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
G
Gsta4
glutathione S-transferase alpha 4
ISO
mRNA:increased expression:striatum (mouse) CTD Direct Evidence: marker/mechanism
CTD
PMID:16510128 , PMID:20964710
RGD:5687772
NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
G
Gstm1
glutathione S-transferase mu 1
susceptibility no_association onset
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion:cds (human)
CTD
PMID:17449559 , PMID:17403576 , PMID:10534244 , PMID:10720475
RGD:5148019 , RGD:7488959 , RGD:5490167
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gsto1
glutathione S-transferase omega 1
onset susceptibility
ISO
DNA:polymorphism:exon:p. A140D (rs4925) (human)
RGD
PMID:14570706 , PMID:17194543
RGD:1358651 , RGD:5490299
NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
G
Gsto2
glutathione S-transferase omega 2
susceptibility onset
ISO
DNA:polymorphism: : -183 A>G (rs2297235)(human) DDNA:polymorphism: : -183 A>G (rs2297235)(human)
RGD
PMID:17194543 , PMID:14570706
RGD:5490299 , RGD:1358651
NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
G
Gstp1
glutathione S-transferase pi 1
ISO
DNA:del: : CTD Direct Evidence: marker/mechanism
CTD
PMID:17190945 PMID:23721876 , PMID:9802272
RGD:1358669
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
G
Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion: :
RGD
PMID:10953187
RGD:5490165
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Hbb
hemoglobin subunit beta
ISO
protein:decreased expression:brain, mitochondrion
RGD
PMID:24333691
RGD:10449046
NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
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Hbg1
hemoglobin subunit gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
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Hcn3
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
IEP
mRNA:increased expression:neuron:
RGD
PMID:19320057
RGD:9693679
NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
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Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
G
Hfe
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16824219
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16791285
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:18184918
RGD:5508459
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hnmt
histamine N-methyltransferase
no_association
ISO
RGD
PMID:19773194 , PMID:17985251
RGD:5509775 , RGD:5509778
NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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Hsf1
heat shock transcription factor 1
treatment
IDA IEP
protein:decreased expression:midbrain (rat)
RGD
PMID:24852355 , PMID:24296154
RGD:10402545 , RGD:10402753
NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15585408
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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Hspa4
heat shock protein family A (Hsp70) member 4
IEP
protein:decreased expression:striatum (rat)
RGD
PMID:22186119
RGD:5686884
NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO IEP
protein: decreased expression protein: increased expression: brain
RGD
PMID:20697033 , PMID:17241115 , PMID:18704197
RGD:6218982 , RGD:6480228 , RGD:6480203
NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
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Hspa9
heat shock protein family A (Hsp70) member 9
disease_progression
ISO
DNA:mutation:cds:A>T476(human) CTD Direct Evidence: marker/mechanism protein:decreased expression:brain DNA:mutations:multiple:
CTD
PMID:16565515 , PMID:20817635 , PMID:16565515 , PMID:18219256 , PMID:19657588
RGD:6784528 , RGD:6784531 , RGD:6784530 , RGD:6784529
NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP
RGD
PMID:23943523
RGD:10402846
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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Htr1a
5-hydroxytryptamine receptor 1A
IMP
RGD
PMID:20508280
RGD:5683633
NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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Htra2
HtrA serine peptidase 2
no_association
ISO
DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) DNA:missense mutation:cds:p.P143A (human) DNA:missense mutations:cds:p.A141S, p.G399S (human) DNA:missense mutation:cds:p.R404W (human) DNA:missense mutation:cds:p.S276C (mouse)
RGD
PMID:15509788 , PMID:21338583 , PMID:21701785 , PMID:18364387 , PMID:18401856 , PMID:14534547 , PMID:15961413
RGD:5688367 , RGD:5688714 , RGD:5688395 , RGD:5688394 , RGD:5688393 , RGD:5688392 , RGD:5688381
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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Htt
huntingtin
ISO
RGD
PMID:26192120
RGD:13452383
NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
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Igf1r
insulin-like growth factor 1 receptor
IMP ISO
protein: altered activity CTD Direct Evidence: marker/mechanism mRNA:altered expression:brain:
CTD
PMID:19276553 , PMID:19703168 , PMID:19276553
RGD:5686429 , RGD:5129515
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Igf2
insulin-like growth factor 2
ISO
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553 , PMID:19276553
RGD:5129515
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
G
Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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Il1b
interleukin 1 beta
ISO IDA
RGD
PMID:12070246 , PMID:23159314
RGD:1358742 , RGD:7175549
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Kcnj4
potassium inwardly-rectifying channel, subfamily J, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18619942
NCBI chr 7:120,717,378...120,744,602
Ensembl chr 7:120,717,375...120,744,602
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Kcnn2
potassium calcium-activated channel subfamily N member 2
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
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Klk6
kallikrein related-peptidase 6
ISO
RGD
PMID:12928483
RGD:1358597
NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
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L1cam
L1 cell adhesion molecule
ISO
RGD
PMID:19995872
RGD:6483033
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
G
Lep
leptin
treatment
IDA
rat protein in a mouse model
RGD
PMID:17895242
RGD:10053631
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lrrk2
leucine-rich repeat kinase 2
susceptibility no_association
ISO
DNA:missense mutations:cds:multiple ClinVar Annotator: match by term: Parkinson Disease, Dominant CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human) DNA:mutation: :p.R1441G (human) DNA:missense mutation:cds:p.R1398H (human) DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human) DNA:missense mutation:cds:p.G2019S (human)
ClinVar CTD
PMID:17388990 PMID:19357115 PMID:19915575 PMID:19915576 PMID:20205471 PMID:22043175 PMID:23017109 PMID:23472874 PMID:23628791 PMID:25149416 PMID:25475535 PMID:25631236 PMID:26467025 PMID:28492532 , PMID:21989859 , PMID:25639775 , PMID:26223426 , PMID:20720502 , PMID:20669305 , PMID:20721916 , PMID:21159540 , PMID:21167764 , PMID:21483109 , PMID:21954089
RGD:5508399 , RGD:10450521 , RGD:10450518 , RGD:5508420 , RGD:5508416 , RGD:5508415 , RGD:5508409 , RGD:5508408 , RGD:5508406 , RGD:5508404
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Mag
myelin-associated glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
G
Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17449559
NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
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Maob
monoamine oxidase B
IEP ISO
protein:increased activity:striatum (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773 , PMID:17417741 , PMID:9129714
RGD:2316771 , RGD:1358484
NCBI chr X:6,430,694...6,533,520
Ensembl chr X:6,430,594...6,533,534
G
Map2
microtubule-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
G
Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21815648
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
G
Mapt
microtubule-associated protein tau
susceptibility
ISO
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs8070723) (human) DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human) DNA:SNPs, haplotypes: :multiple
CTD
PMID:19915575 PMID:20711177 , PMID:19879020 , PMID:22221882 , PMID:18785640 , PMID:18162161
RGD:8158095 , RGD:8158107 , RGD:8158106 , RGD:8158096
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
G
Minar2
membrane integral NOTCH2 associated receptor 2
ISS
MouseDO
NCBI chr18:54,108,471...54,123,061
Ensembl chr18:54,108,493...54,123,049
G
Mir1
microRNA 1
ISO
RGD
PMID:21295623
RGD:10755488
NCBI chr18:2,054,933...2,055,019
G
Mir106a
microRNA 106a
ISO
RGD
PMID:25553963
RGD:10450788
NCBI chr X:140,117,891...140,117,968
Ensembl chr X:140,117,891...140,117,968
G
Mir132
microRNA 132
ISO
RGD
PMID:25553963
RGD:10450788
NCBI chr10:62,014,995...62,015,095
Ensembl chr10:62,014,995...62,015,095
G
Mir155
microRNA 155
IEP
RNA:increased expression: plasma extracellular vesicle
RGD
PMID:32326590
RGD:41404531
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
G
Mir181c
microRNA 181c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28770951
NCBI chr19:25,290,211...25,290,316
Ensembl chr19:25,290,211...25,290,316
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Mir19b1
microRNA 19b-1
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr15:100,180,464...100,180,550
Ensembl chr15:100,180,464...100,180,550
G
Mir21
microRNA 21
IEP
RNA:increased expression: plasma extracellular vesicle
RGD
PMID:32326590
RGD:41404531
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
G
Mir210
microRNA 210
IEP
RNA:increased expression: plasma extracellular vesicle
RGD
PMID:32326590
RGD:41404531
NCBI chr 1:214,208,355...214,208,464
G
Mir22
microRNA 22
ISO
RGD
PMID:21295623
RGD:10755488
NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
G
Mir29b1
microRNA 29b-1
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr 4:58,344,310...58,344,390
Ensembl chr 4:58,344,310...58,344,390
G
Mir301a
microRNA 301a
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr10:74,417,746...74,417,845
Ensembl chr10:74,417,746...74,417,845
G
Mir34b
microRNA 34b
ISO
RGD
PMID:21558425
RGD:10755477
NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
G
Mir34c
microRNA 34c
ISO
RGD
PMID:21558425
RGD:10755477
NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
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
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
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
G
Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO IMP
DNA:polymorphism:exon:m.10398A>G(human) ClinVar Annotator: match by term: Parkinson disease, resistance to protein: decreased activity: brain: MPTP model of Parkinson disease protein: decreased activity: striatum: rotenone model of Parkinson disease
ClinVar
PMID:6343397 PMID:17066297 , PMID:15975594 , PMID:21291942 , PMID:21484267
RGD:5491206 , RGD:5687692 , RGD:5687691
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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
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Mta1
metastasis associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27044752
NCBI chr 6:137,911,302...137,950,066
Ensembl chr 6:137,924,293...137,950,075
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30726997
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :1049A>G (human)
RGD
PMID:21070756
RGD:5508183
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
G
Nanog
Nanog homeobox
treatment
ISO
mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell
RGD
PMID:24954161
RGD:9681444
NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
G
Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:9343502
RGD:2303766
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
G
Ncapg2
non-SMC condensin II complex, subunit G2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 6:144,291,313...144,362,454
Ensembl chr 6:144,291,974...144,363,947
G
Ndufa13
NADH:ubiquinone oxidoreductase subunit A13
ISO
RGD
PMID:26605748
RGD:13504667
NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
G
Ndufb8
NADH:ubiquinone oxidoreductase subunit B8
ISO
RGD
PMID:26605748
RGD:13504667
NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
G
Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
onset
ISO
protein:increased oxidation:brain, mitochondrion (mouse)
RGD
PMID:21196577
RGD:6484690
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
G
Ndufs4
NADH:ubiquinone oxidoreductase subunit S4
ISO
RGD
PMID:21383081
RGD:6484691
NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
G
Ndufv2
NADH:ubiquinone oxidoreductase core subunit V2
susceptibility
ISO
DNA:polymorphism: :p.A29V ClinVar Annotator: match by term: Parkinson disease, susceptibility to
ClinVar
PMID:9570948 , PMID:9570948
RGD:2302386
NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
G
Nedd8
NEDD8 ubiquitin like modifier
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr15:34,340,607...34,352,673
Ensembl chr15:34,340,607...34,352,673
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Ngfr
nerve growth factor receptor
ISO
protein:decreased expression:brain
RGD
PMID:8347330
RGD:10413896
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
G
Nos1
nitric oxide synthase 1
ISO
RNA, protein:increased expression:neutrophil CTD Direct Evidence: marker/mechanism
CTD
PMID:26383258 , PMID:11020342 , PMID:11809160
RGD:5132632 , RGD:1358519
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
G
Nos2
nitric oxide synthase 2
ISO
protein:increased expression:striatum (mouse)
RGD
PMID:21970803
RGD:5509573
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17188257
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
G
Nqo2
N-ribosyldihydronicotinamide:quinone reductase 2
susceptibility
ISO
DNA:deletion:promoter: (human)
RGD
PMID:18314446
RGD:11073691
NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to wild-type and untreated
RGD
PMID:29530712
RGD:40924655
NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
G
Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to wild-type and untreated
RGD
PMID:29530712
RGD:40924655
G
Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO ISS
DNA:insertion:intron:g.7048_7049insG (human) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
MouseDO ClinVar
PMID:11914402
RGD:1358553
NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
G
Ntsr1
neurotensin receptor 1
ISO
RGD
PMID:7700529
RGD:9743906
NCBI chr 3:175,982,313...176,046,345
Ensembl chr 3:175,885,894...176,046,345
G
Nubpl
nucleotide binding protein-like
ISO
ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084
NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
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Ogg1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:substantia nigra, neuron
RGD
PMID:15841414
RGD:8657142
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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Optn
optineurin
IEP
protein:increased expression:substantia nigra (rat)
RGD
PMID:27473339
RGD:13432580
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
PMID:25741868
NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
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Park7
Parkinsonism associated deglycase
onset
ISO IMP
DNA:missense mutation, deletion: :L166P ClinVar Annotator: match by term: Parkinson Disease, Recessive CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson's disease
ClinVar CTD
PMID:12953260 PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 PMID:20981092 PMID:22043175 PMID:22898350 PMID:23037695 PMID:23792957 PMID:25149416 PMID:26467025 PMID:27884173 PMID:28492532 , PMID:12851414 , PMID:24157858 , PMID:23766857
RGD:1601073 , RGD:12880446 , RGD:10450523
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24157858
RGD:12880446
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Parp1
poly (ADP-ribose) polymerase 1
susceptibility no_association
ISO
DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) DNA:snps:multiple (human)
RGD
PMID:17362997 , PMID:21767974
RGD:5510024 , RGD:5510021
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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Penk
proenkephalin
IEP
mRNA:increased expression:striatum:
RGD
PMID:11501038
RGD:10003114
NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
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Phactr2
phosphatase and actin regulator 2
ISO
DNA: snp: intron: rs11155313
RGD
PMID:19429005
RGD:6483095
NCBI chr 1:7,352,050...7,633,991
Ensembl chr 1:7,355,154...7,480,825
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Pink1
PTEN induced kinase 1
ISO IMP
ClinVar Annotator: match by term: Parkinson's disease CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17010972 PMID:21366594 PMID:22043175 PMID:24374061 PMID:25149416 PMID:30734931 , PMID:25421206 , PMID:24157858 , PMID:25639775 , PMID:26223426
RGD:11560775 , RGD:12880446 , RGD:10450521 , RGD:10450518
NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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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
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Pitx3
paired-like homeodomain 3
model
ISO ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
PMID:18573342
RGD:11535079
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Pla2g6
phospholipase A2 group VI
onset no_association
ISO
DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)
RGD
PMID:20938027 , PMID:21368765
RGD:6482733 , RGD:6482734
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Polg
DNA polymerase gamma, catalytic subunit
onset
ISO
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) DNA:missense mutations:exons:p.R853W,p.G737R(human)
RGD
PMID:15351195 , PMID:23865558 , PMID:16634032
RGD:8694175 , RGD:8694203 , RGD:8694201
NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Ppargc1a
PPARG coactivator 1 alpha
onset
ISO
DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862 , PMID:21595954 , PMID:21376232
RGD:6484270 , RGD:6484271
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
IEP
protein:altered localization:striate nucleus (rat)
RGD
PMID:18372251
RGD:10043801
NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
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Ppp2ca
protein phosphatase 2 catalytic subunit alpha
ISO
protein:decreased tyrosine phosphorylation:brain (human)
RGD
PMID:24395787
RGD:8693390
NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
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Prkn
parkin RBR E3 ubiquitin protein ligase
treatment
ISO IDA
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism protein:increased tyrosine-phosphorylation:substantia nigra, striatum, DNA:deletions:exons: (human)
CTD
PMID:12588799 PMID:15198987 PMID:15882845 PMID:16573651 PMID:17010972 PMID:19946270 PMID:22043175 PMID:22841634 PMID:23628791 PMID:24582596 PMID:25149416 PMID:25631236 PMID:28284907 , PMID:12629236 , PMID:28526446 , PMID:28583715 , PMID:28695462 , PMID:25639775 , PMID:26223426 , PMID:20823226 , PMID:16914382 , PMID:9560156
RGD:737763 , RGD:13432567 , RGD:13432563 , RGD:13432207 , RGD:10450521 , RGD:10450518 , RGD:8693409 , RGD:10413859 , RGD:9693725
NCBI chr 1:48,880,015...50,069,998
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Ptn
pleiotrophin
treatment
IDA
RGD
PMID:19615368
RGD:10044022
NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
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Rpl14
ribosomal protein L14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr 8:129,240,528...129,243,400
Ensembl chr 8:129,240,528...129,243,402
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Rpl23a
ribosomal protein L23a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr10:65,441,295...65,443,981
Ensembl chr10:65,441,295...65,443,981
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Rpl6
ribosomal protein L6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
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Rps8
ribosomal protein S8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr 5:136,020,941...136,023,511
Ensembl chr 5:136,020,941...136,023,511
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Rrn3
RRN3 homolog, RNA polymerase I transcription factor
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr10:3,170,387...3,214,648
Ensembl chr10:3,170,742...3,214,655
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RT1-Da
RT1 class II, locus Da
onset
ISO
DNA:SNP:intron: (rs3129882) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:20711177 , PMID:20711177
RGD:5490158
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism: :HLA-DRB1*03 (human)
RGD
PMID:20462916
RGD:5147576
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21725169 , PMID:21402140
RGD:5508763 , RGD:5508766
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
protein:decreased expression:substantia nigra, neuron
RGD
PMID:26605748
RGD:13504667
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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Septin14
septin 14
susceptibility
ISO
DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human)
RGD
PMID:27115672
RGD:13504669
NCBI chr12:30,600,162...30,623,173
Ensembl chr12:30,600,957...30,621,079
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Septin4
septin 4
ISO
RGD
PMID:12695511
RGD:13504670
NCBI chr10:74,860,068...74,884,196
Ensembl chr10:74,861,714...74,884,196
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Serpinf1
serpin family F member 1
severity
ISO
protein:increased expression:serum, extracellular exosome (human)
RGD
PMID:31593110
RGD:27226691
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Slc11a2
solute carrier family 11 member 2
ISO
DNA:polymorphism:cds:1254T>C(human)
RGD
PMID:21777657 , PMID:19011085
RGD:5688403 , RGD:5688713
NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
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Slc18a2
solute carrier family 18 member A2
resistance
IEP ISO IMP
mRNA:decreased expression:substantia nigra (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression:putamen, caudate nucleus, striatum (human) DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)
CTD
PMID:16112329 , PMID:21291984 , PMID:16269145 , PMID:16421508 , PMID:11463816 , PMID:16339215
RGD:5131086 , RGD:5129143 , RGD:5131167 , RGD:5131163 , RGD:5131165
NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25149416
NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
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Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691
NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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Snca
synuclein alpha
ISO IDA
human gene in a mouse model ClinVar Annotator: match by term: Parkinson Disease, Dominant CTD Direct Evidence: marker/mechanism protein:decreased expression:cerebral spinal fluid: DNA:missense mutation:cds:p.S129A(human) DNA:mutation:cds:G209A(human) DNA:mutation:cds:p.A30P(human) protein:increased expression:astrocyte, oligodendroglial cell
ClinVar CTD
PMID:11535288 PMID:12151787 PMID:12732244 PMID:12885775 PMID:14535945 PMID:15099020 PMID:17131421 PMID:17690948 PMID:18322262 PMID:18353766 PMID:18841091 PMID:19915575 PMID:19915576 PMID:20664293 PMID:20711177 PMID:21245015 PMID:21892157 PMID:22043175 PMID:22110584 PMID:22166454 PMID:22185909 PMID:22355530 PMID:23427326 PMID:23457019 PMID:24047453 PMID:24509835 PMID:24752924 PMID:24833599 PMID:24936070 PMID:25064009 PMID:25106480 PMID:25149416 PMID:25393002 PMID:25475535 PMID:25631236 PMID:26341711 PMID:28492532 , PMID:10678833 , PMID:18625222 , PMID:18178617 , PMID:25639775 , PMID:26223426 , PMID:26501339 , PMID:9197268 , PMID:9462735 , PMID:10651022 , PMID:17448146 , PMID:12122208
RGD:1302527 , RGD:13506723 , RGD:13506646 , RGD:10450521 , RGD:10450518 , RGD:10450517 , RGD:6480197 , RGD:6480196 , RGD:6480094 , RGD:6478794 , RGD:730239
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Sncaip
synuclein, alpha interacting protein
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532
NCBI chr18:47,739,284...47,877,679
Ensembl chr18:47,739,140...47,877,676
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Sncb
synuclein, beta
onset
ISO
DNA:SNP: :rs1352303(human) protein:increased expression:hippocampus
RGD
PMID:17556099 , PMID:10557341
RGD:6478793 , RGD:6480095
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
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Sncg
synuclein, gamma
ISO
protein:increased expression:hippocampus
RGD
PMID:10557341
RGD:6480095
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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Sod1
superoxide dismutase 1
treatment
ISO
human gene in a rat model CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15824117 PMID:16353238 PMID:21318773 , PMID:16353238
RGD:8655933
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17188257 PMID:18353766 PMID:25279756 , PMID:11161607
RGD:13464352
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Spr
sepiapterin reductase
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
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Srrm2
serine/arginine repetitive matrix 2
ISO
mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human)
RGD
PMID:20161708
RGD:11038728
NCBI chr10:13,128,820...13,162,956
Ensembl chr10:13,145,099...13,162,343
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Synj1
synaptojanin 1
ISO
RGD
PMID:25639775
RGD:10450521
NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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Taldo1
transaldolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23233872
NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
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Tardbp
TAR DNA binding protein
ISO
DNA:mutation:cds:p.A382T (human)
RGD
PMID:21667065 , PMID:20551689
RGD:5687172 , RGD:5687183
NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
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Tcn2
transcobalamin 2
ISO
RGD
PMID:20027219
RGD:11060125
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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Tdgf1
teratocarcinoma-derived growth factor 1
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
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Tfam
transcription factor A, mitochondrial
susceptibility no_association
ISO ISS
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) DNA:missense mutation:exon:p.S12T (rs1937) (human)
MouseDO
PMID:19925850 , PMID:17537576 , PMID:18248889
RGD:14389730 , RGD:6771185 , RGD:6771184
NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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Th
tyrosine hydroxylase
IMP ISO IEP
CTD Direct Evidence: marker/mechanism human gene in a rat model protein:decreased expression:substantia nigra (mouse) protein:decreased expression:midbrain, neuron (rat) protein:decreased expression:striatum (human)
CTD
PMID:30236862 , PMID:2573072 , PMID:9853519 , PMID:21323909 , PMID:21376343 , PMID:15857400
RGD:5129120 , RGD:5129121 , RGD:5128616 , RGD:5128607 , RGD:2289955
NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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Tmem230
transmembrane protein 230
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270108
NCBI chr 3:124,870,867...124,879,274
Ensembl chr 3:124,870,869...124,879,216
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
mRNA:decreased expression:midbrain, dopaminergic neuron (mouse)
RGD
PMID:19780901
RGD:5130931
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Tnk2
tyrosine kinase, non-receptor, 2
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:23686771 PMID:25741868 PMID:26595808
NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
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Tnr
tenascin R
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:26595808 PMID:28492532
NCBI chr13:77,602,249...77,678,385
Ensembl chr13:77,485,113...77,678,437
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Trpm2
transient receptor potential cation channel, subfamily M, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27957685
NCBI chr20:11,434,062...11,482,880
Ensembl chr20:11,436,267...11,482,051
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Twnk
twinkle mtDNA helicase
ISS
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
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Vdac1
voltage-dependent anion channel 1
ISO
RGD
PMID:24825319
RGD:13504672
NCBI chr10:37,724,915...37,752,827
Ensembl chr10:37,724,915...37,752,826
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Vdr
vitamin D receptor
onset
ISO
DNA:polymorphisms: :rs4334089, rs2853559(human)
RGD
PMID:21309754
RGD:13217419
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:19476518
RGD:5685606
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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Vps13c
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:26942284
NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson's disease ClinVar Annotator: match by term: Parkinson Disease, Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25149416 PMID:25741868 , PMID:25701813 , PMID:25639775 , PMID:26223426
RGD:10450845 , RGD:10450521 , RGD:10450518
NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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Snca
synuclein alpha
ISO
ClinVar Annotator: match by term: Parkinson disease 1, autosomal dominant ClinVar Annotator: match by OMIM:168601
OMIM ClinVar
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:20437567 PMID:23427326 PMID:23457019 PMID:23526723 PMID:24047453 PMID:24158904 PMID:24158909 PMID:24936070 PMID:26341711 PMID:28492532
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Gigyf2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by OMIM:607688 ClinVar Annotator: match by term: Parkinson disease 11
ClinVar OMIM
PMID:18358451 PMID:18923002 PMID:19250854 PMID:19279319 PMID:19449032 PMID:24033266 PMID:25326637 PMID:25741868
NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
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Aup1
AUP1, lipid droplet regulating VLDL assembly factor
ISO
ClinVar Annotator: match by term: Parkinson disease 13
ClinVar
PMID:18401856 PMID:18790661
NCBI chr 4:113,887,030...113,890,103
Ensembl chr 4:113,887,115...113,890,101
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Htra2
HtrA serine peptidase 2
ISO
ClinVar Annotator: match by term: Parkinson disease 13 ClinVar Annotator: match by OMIM:610297
OMIM ClinVar
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 PMID:21163861 PMID:21338583 PMID:21701785 PMID:25422467 PMID:25741868 PMID:28492532
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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Loxl3
lysyl oxidase-like 3
ISO
ClinVar Annotator: match by term: Parkinson disease 13
ClinVar
PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 PMID:25422467 PMID:25741868 PMID:28492532
NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET ClinVar Annotator: match by OMIM:612953
OMIM ClinVar
PMID:18570303 PMID:18981035 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21700586 PMID:24088041 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:30302010 PMID:32860008
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Fbxo7
F-box protein 7
ISO
ClinVar Annotator: match by term: Parkinson disease 15 ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:260300
OMIM ClinVar CTD
PMID:18513678 PMID:19038853 PMID:20603184 PMID:23352116 PMID:24112787 PMID:25029497 PMID:25174650 PMID:25741868 PMID:27294386 PMID:28492532
NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Parkinson disease 17
ClinVar
NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson disease 17
OMIM ClinVar
PMID:18342564 PMID:21763483 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:25288323 PMID:26251041 PMID:28492532 PMID:28796472 PMID:28862745
NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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Dnajc6
DnaJ heat shock protein family (Hsp40) member C6
ISO
ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset ClinVar Annotator: match by term: Parkinson disease 19b, early-onset
OMIM ClinVar
PMID:2256350 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25741868 PMID:26528954 PMID:26703368 PMID:28492532 PMID:32214227
NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
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Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar
PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16172858 PMID:16240353 PMID:16251215 PMID:16269541 PMID:16272257 PMID:16298482 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16614029 PMID:16632201 PMID:16643318 PMID:16728648 PMID:16750929 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17020475 PMID:17050822 PMID:17060595 PMID:17083102 PMID:17095157 PMID:17114044 PMID:17115391 PMID:17200152 PMID:17215492 PMID:17353388 PMID:17584768 PMID:17914064 PMID:17938369 PMID:18182054 PMID:18213618 PMID:18258746 PMID:18353371 PMID:18445495 PMID:18539534 PMID:18539535 PMID:18675914 PMID:18704525 PMID:18752982 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:19412725 PMID:19513331 PMID:19741132 PMID:20008657 PMID:20130188 PMID:20197411 PMID:20881132 PMID:20933457 PMID:21115957 PMID:21168496 PMID:21248115 PMID:21280089 PMID:21362567 PMID:21378983 PMID:21494637 PMID:21686713 PMID:21714003 PMID:21753159 PMID:21753163 PMID:21954089 PMID:22194196 PMID:22539006 PMID:22575234 PMID:22773119 PMID:22914834 PMID:23075850 PMID:23396536 PMID:23472874 PMID:23813973 PMID:24033266 PMID:24123150 PMID:24148854 PMID:24243757 PMID:24863511 PMID:25107341 PMID:25309331 PMID:25330404 PMID:25330418 PMID:25401981 PMID:25416817 PMID:25434972 PMID:25446991 PMID:25493281 PMID:25540317 PMID:25741868 PMID:25836420 PMID:26062626 PMID:26251043 PMID:26269629 PMID:26365310 PMID:26467025 PMID:26651604 PMID:26824392 PMID:28103901 PMID:28321439 PMID:28465860 PMID:28492532 PMID:28821568 PMID:28973664 PMID:29129681 PMID:29386392 PMID:29387348 PMID:29627023 PMID:29907646 PMID:30045977 PMID:30046008 PMID:30507963 PMID:30639209
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Pacrg
parkin coregulated
ISO
ClinVar Annotator: match by term: Parkinson disease 2
ClinVar
PMID:16328510 PMID:28492532
NCBI chr 1:50,070,273...50,491,323
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Podxl
podocalyxin-like
ISO
ClinVar Annotator: match by term: Parkinson disease 2
ClinVar
PMID:26864383
NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Parkinson disease 2 ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM ClinVar
PMID:7565830 PMID:9560156 PMID:9731209 PMID:9802278 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10894217 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11163284 PMID:11179010 PMID:11402119 PMID:11405814 PMID:11487568 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12056932 PMID:12116199 PMID:12397156 PMID:12629236 PMID:12707457 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12891670 PMID:12975291 PMID:14519684 PMID:15090472 PMID:15193026 PMID:15390068 PMID:15606901 PMID:15816865 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16086186 PMID:16130111 PMID:16227559 PMID:16269266 PMID:16328510 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16500134 PMID:16606767 PMID:16643317 PMID:16714300 PMID:16769863 PMID:16793319 PMID:17095157 PMID:17187375 PMID:17415800 PMID:17766365 PMID:17914726 PMID:18211709 PMID:18413468 PMID:18486522 PMID:18514563 PMID:18519021 PMID:18685134 PMID:18927607 PMID:18973255 PMID:19006224 PMID:19162522 PMID:19205068 PMID:19405094 PMID:19636047 PMID:19715670 PMID:19801972 PMID:19946270 PMID:20301651 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21215313 PMID:21322020 PMID:21348451 PMID:21534944 PMID:21681106 PMID:21694720 PMID:21993715 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22302706 PMID:22523156 PMID:22555654 PMID:22766139 PMID:22777964 PMID:22956510 PMID:22995991 PMID:23275044 PMID:23531835 PMID:23727886 PMID:23751051 PMID:23770917 PMID:23818421 PMID:23835509 PMID:23880019 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24375549 PMID:24647965 PMID:24677602 PMID:24816432 PMID:24831986 PMID:25174650 PMID:25238391 PMID:25558820 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27006626 PMID:27094865 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27534820 PMID:28492532 PMID:30537300 PMID:32214227
NCBI chr 1:48,880,015...50,069,998
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Parkinson disease 20, early-onset
ClinVar
PMID:28492532
NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
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Synj1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Parkinson disease 20, early-onset
OMIM ClinVar
PMID:23804563 PMID:23804577 PMID:24609975 PMID:25316601 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27496670 PMID:27869329 PMID:28135719 PMID:28492532 PMID:29163333
NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Parkinson disease 21
OMIM ClinVar
PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532
NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
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LOC100911516
coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like
ISO
ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant
OMIM ClinVar
PMID:25662902 PMID:26067113
NCBI chr 9:101,106,892...101,107,591
Ensembl chr 9:101,106,892...101,107,575
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Vps13c
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Parkinson disease 23, autosomal recessive early-onset
ClinVar OMIM
PMID:25741868 PMID:26942284 PMID:28492532
NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
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Snca
synuclein alpha
ISO
OMIM
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Uchl1
ubiquitin C-terminal hydrolase L1
susceptibility
ISO
ClinVar Annotator: match by term: Parkinson disease 5 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 PMID:15048890 PMID:16450370 PMID:18411255 PMID:18550537 PMID:19864305 PMID:21268678 PMID:22839974 PMID:28007905 PMID:28492532
NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
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Ddost
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
ISO
ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset
ClinVar
NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
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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
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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
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Mtfp1
mitochondrial fission process 1
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:19492057
RGD:12880394
NCBI chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
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Park7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by synonym: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar
PMID:16632486
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar Annotator: match by term: PINK1-Related Parkinsonism ClinVar Annotator: match by OMIM:605909 ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:2345993 PMID:2546640 PMID:15087508 PMID:15349860 PMID:15349870 PMID:15349871 PMID:15584030 PMID:15596610 PMID:15824318 PMID:15955953 PMID:15970950 PMID:16009891 PMID:16207217 PMID:16207731 PMID:16257123 PMID:16401616 PMID:16482571 PMID:16547921 PMID:16632486 PMID:16702191 PMID:16755580 PMID:16769864 PMID:16805805 PMID:16966503 PMID:16969854 PMID:17030667 PMID:17055324 PMID:17172567 PMID:17579517 PMID:17960343 PMID:18003639 PMID:18330912 PMID:18359116 PMID:18403612 PMID:18486522 PMID:18524835 PMID:18546294 PMID:18685134 PMID:18704525 PMID:18785233 PMID:19048950 PMID:19087301 PMID:19229105 PMID:19351622 PMID:19847793 PMID:19889566 PMID:19890973 PMID:20126261 PMID:20356854 PMID:20506312 PMID:20558144 PMID:20981092 PMID:21412950 PMID:21421046 PMID:21488273 PMID:21534944 PMID:21925922 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22445250 PMID:22451330 PMID:22644621 PMID:22764206 PMID:22956510 PMID:23303188 PMID:23459931 PMID:23986421 PMID:24033266 PMID:24167364 PMID:24374372 PMID:24475098 PMID:24660942 PMID:25466404 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27003823 PMID:27094865 PMID:27574110 PMID:27884173 PMID:28492532 PMID:28849312
NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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Park7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Parkinson disease 7 ClinVar Annotator: match by term: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:606324
OMIM ClinVar CTD
PMID:1818649 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15254937 PMID:15365989 PMID:15790532 PMID:15944198 PMID:16997464 PMID:18181649 PMID:18436956 PMID:18436965 PMID:18973254 PMID:19405094 PMID:19429112 PMID:20639397 PMID:20981092 PMID:21532868 PMID:22173095 PMID:22428580 PMID:22492997 PMID:22960331 PMID:22995991 PMID:23241025 PMID:23792957 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:27884173 PMID:28348719 PMID:28492532 PMID:28993701 PMID:29599708
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Lrrk2
leucine-rich repeat kinase 2
ISO
DNA:missense mutation:cds:p.G2385R (human) ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant ClinVar Annotator: match by OMIM:607060
ClinVar OMIM
PMID:7898705 PMID:9276200 PMID:15541308 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15880653 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16003110 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16157908 PMID:16157909 PMID:16172858 PMID:16240353 PMID:16251215 PMID:16269541 PMID:16272164 PMID:16272257 PMID:16298482 PMID:16311269 PMID:16321986 PMID:16333314 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16614029 PMID:16616379 PMID:16632201 PMID:16633828 PMID:16643318 PMID:16728648 PMID:16750377 PMID:16750929 PMID:16788020 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17019612 PMID:17020475 PMID:17050822 PMID:17060595 PMID:17078063 PMID:17083102 PMID:17095157 PMID:17114044 PMID:17115391 PMID:17149743 PMID:17179858 PMID:17200152 PMID:17215492 PMID:17222106 PMID:17353388 PMID:17419834 PMID:17447891 PMID:17482357 PMID:17523199 PMID:17540608 PMID:17584768 PMID:17622782 PMID:17659642 PMID:17803033 PMID:17804834 PMID:17914064 PMID:17938369 PMID:18182054 PMID:18197194 PMID:18213618 PMID:18230735 PMID:18258746 PMID:18265005 PMID:18353371 PMID:18358451 PMID:18412265 PMID:18445495 PMID:18539534 PMID:18539535 PMID:18591067 PMID:18675914 PMID:18688798 PMID:18704525 PMID:18716801 PMID:18752982 PMID:18781329 PMID:18923807 PMID:18973807 PMID:18981379 PMID:18986508 PMID:19006185 PMID:19020907 PMID:19283415 PMID:19308469 PMID:19357115 PMID:19405094 PMID:19412725 PMID:19472409 PMID:19489756 PMID:19513331 PMID:19667187 PMID:19699188 PMID:19741132 PMID:19800393 PMID:20008657 PMID:20130188 PMID:20177695 PMID:20186690 PMID:20197411 PMID:20301387 PMID:20443975 PMID:20642453 PMID:20669299 PMID:20721913 PMID:20881132 PMID:20933457 PMID:21060682 PMID:21115957 PMID:21168496 PMID:21248115 PMID:21280089 PMID:21362567 PMID:21378983 PMID:21406209 PMID:21494637 PMID:21538529 PMID:21632271 PMID:21658387 PMID:21661047 PMID:21686713 PMID:21714003 PMID:21753159 PMID:21753163 PMID:21796139 PMID:21885347 PMID:21954089 PMID:22194196 PMID:22251894 PMID:22415848 PMID:22445250 PMID:22539006 PMID:22575234 PMID:22773119 PMID:22914834 PMID:22988866 PMID:22988870 PMID:23075850 PMID:23241745 PMID:23396536 PMID:23472874 PMID:23726462 PMID:23813973 PMID:23913756 PMID:23963289 PMID:24033266 PMID:24123150 PMID:24148854 PMID:24243757 PMID:24470158 PMID:24488318 PMID:24565865 PMID:24695735 PMID:24821816 PMID:24863511 PMID:25027012 PMID:25107341 PMID:25243190 PMID:25309331 PMID:25330404 PMID:25330418 PMID:25378673 PMID:25401981 PMID:25416817 PMID:25434972 PMID:25446991 PMID:25493281 PMID:25540317 PMID:25741868 PMID:25821816 PMID:25836420 PMID:26062626 PMID:26251043 PMID:26269629 PMID:26365310 PMID:26467025 PMID:26651604 PMID:26824392 PMID:26930193 PMID:27094865 PMID:27111571 PMID:27832104 PMID:28103901 PMID:28321439 PMID:28465860 PMID:28492532 PMID:28821568 PMID:28973664 PMID:29129681 PMID:29248340 PMID:29369408 PMID:29386392 PMID:29387348 PMID:29627023 PMID:29859640 PMID:29907646 PMID:30039155 PMID:30045977 PMID:30046008 PMID:30507963 PMID:30639209 , PMID:21796139
RGD:5508405
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Adh1
alcohol dehydrogenase 1 (class I)
ISO
ClinVar Annotator: match by term: Parkinson disease, mitochondrial
ClinVar
PMID:15642852
NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
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Fmc1
formation of mitochondrial complex V assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29371327
NCBI chr 4:66,276,835...66,284,868
Ensembl chr 4:66,276,835...66,284,868
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Ndufv2
NADH:ubiquinone oxidoreductase core subunit V2
ISO
ClinVar Annotator: match by null
ClinVar
PMID:9570948
NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
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Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile dystonia-parkinsonism
CTD ClinVar
PMID:10889530 PMID:16103889 PMID:16171832 PMID:16212992 PMID:18614672 PMID:19590515 PMID:20427663 PMID:22495311 PMID:23979605 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:26931468 PMID:27555326 PMID:28263315 PMID:28492532 PMID:29559554
NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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Slc6a3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1
OMIM ClinVar
PMID:19478460 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 PMID:25741436 PMID:25741868 PMID:28492532 PMID:29559554
NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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Slc18a2
solute carrier family 18 member A2
ISO
ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2 ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease ClinVar Annotator: match by term: Abnormal dense granules
ClinVar OMIM
PMID:23363473 PMID:32581362
NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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Mapt
microtubule-associated protein tau
ISO
OMIM
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6850280
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Atxn2
ataxin 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar Annotator: match by term: Spinocerebellar ataxia 2
OMIM ClinVar
PMID:25741868
NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
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Nup62
nucleoporin 62
ISS
OMIM:271930 | OMIM:500003 | OMIM:609161
MouseDO
NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
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Pde8b
phosphodiesterase 8B
ISS
OMIM:271930 | OMIM:500003 | OMIM:609161
MouseDO
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by OMIM:617054 ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset
ClinVar OMIM
PMID:25741868 PMID:27292112
NCBI chr19:40,927,007...41,029,206
Ensembl chr19:40,927,007...41,029,206
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Il4i1
interleukin 4 induced 1
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar
PMID:16786527
NCBI chr 1:100,811,727...100,836,901
Ensembl chr 1:100,830,064...100,836,677
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Nup62
nucleoporin 62
ISO
ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar Annotator: match by OMIM:271930
OMIM ClinVar
PMID:16786527
NCBI chr 1:100,811,140...100,827,119
Ensembl chr 1:100,811,755...100,827,111
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial
ClinVar
PMID:7668837 PMID:8554662 PMID:9270604 PMID:9501263 PMID:9631394 PMID:17663470 PMID:22789932 PMID:23206802 PMID:24002810 PMID:25741868
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Parkinsonism, early onset with mental retardation
ClinVar
PMID:25434005
NCBI chr20:295,338...310,363
Ensembl chr20:295,250...310,380
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Abcb7
ATP binding cassette subfamily B member 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:75,150,511...75,291,950
Ensembl chr X:75,150,608...75,291,938
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Amer1
APC membrane recruitment protein 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:64,686,620...64,702,504
Ensembl chr X:64,686,623...64,702,441
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked 1 ClinVar Annotator: match by null
OMIM ClinVar
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
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Nhsl2
NHS-like 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:71,895,202...71,980,019
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Phka1
phosphorylase kinase regulatory subunit alpha 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:72,377,020...72,515,385
Ensembl chr X:72,377,021...72,515,366
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Rtl9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:114,367,028...114,379,646
Ensembl chr X:114,373,907...114,378,622
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