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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Parkinson's disease 20
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Accession:DOID:0060898 term browser 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
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinson's disease 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,641,051...29,758,392
Ensembl chr11:29,640,775...29,757,526
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G RGD1562726 similar to Putative protein C21orf62 homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 OMIM
ClinVar
PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 More... NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Parkinson's disease 20 35
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Parkinsonism 396
                Parkinson's disease 316
                  early-onset Parkinson's disease 50
                    Parkinson's disease 20 35
paths to the root