RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Parkinson's disease 20
Accession: DOID:0060898
browse the term
Definition: An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)
Synonyms: exact_synonym: PARK20; early-onset Parkinson disease 20; early-onset Parkinson's disease 20
primary_id: OMIM:615530
alt_id: RDO:9000983
xref: NCI:C203535
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Atp5po
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
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Cryzl1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
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Dnajc28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
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Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Epcip
exosomal polycystin 1 interacting protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
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Eva1c
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
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Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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Hunk
hormonally upregulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526
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Ifnar1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
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Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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Mis18a
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
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Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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Mrps6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
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Olig1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
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Olig2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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Paxbp1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28337550 PMID:28492532 PMID:28776642 PMID:32391929 PMID:34426522 PMID:36325100 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Rcan1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Scaf4
SR-related CTD-associated factor 4
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
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Slc5a3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smim11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
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Sod1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Son
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 PMID:26556829 PMID:28492532 More...
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Synj1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25316601 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27496670 PMID:27869329 PMID:28135719 PMID:28421333 PMID:28492532 PMID:29163333 PMID:31440721 PMID:32707456 PMID:35861376 More...
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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Tiam1
TIAM Rac1 associated GEF 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
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Tmem50b
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
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Urb1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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