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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
 xref: NCI:C203535

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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 chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		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 chrNW_004955407:32,076,670...32,089,307
Ensembl chrNW_004955407:32,076,507...32,089,307 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:34,002,656...34,042,524 JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,016,289...33,055,495
Ensembl chrNW_004955407:33,015,545...33,055,495 		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 chrNW_004955407:32,928,655...32,931,331
Ensembl chrNW_004955407:32,928,663...32,929,814 		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 chrNW_004955407:33,007,257...33,014,600
Ensembl chrNW_004955407:33,007,257...33,015,039 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,229,108...32,249,097 JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,934,954...32,043,827
Ensembl chrNW_004955407:31,934,965...32,044,228 		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 chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863 		JBrowse link
G Hunk hormonally up-regulated Neu-associated kinase ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,439,045...31,555,542
Ensembl chrNW_004955407:31,439,124...31,552,732 		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 chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651 		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 chrNW_004955407:32,601,862...32,637,852
Ensembl chrNW_004955407:32,601,826...32,638,564 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,641,097...32,659,360
Ensembl chrNW_004955407:32,640,622...32,663,259 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675 		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 chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356 		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 chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,799,537...31,813,897
Ensembl chrNW_004955407:31,798,924...31,813,862 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,833,469...31,847,043 JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,471,501...32,480,358
Ensembl chrNW_004955407:32,471,516...32,479,079 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,432,888...32,436,209
Ensembl chrNW_004955407:32,433,849...32,434,923 		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 chrNW_004955407:32,178,837...32,210,470
Ensembl chrNW_004955407:32,179,879...32,210,352 		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 chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,873,427...33,951,762
Ensembl chrNW_004955407:33,873,383...33,951,498 		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 chrNW_004955407:31,269,673...31,303,823
Ensembl chrNW_004955407:31,270,035...31,303,823 		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 chrNW_004955407:33,460,238...33,511,889
Ensembl chrNW_004955407:33,494,816...33,511,968 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:33,740,552...33,750,974
Ensembl chrNW_004955407:33,740,552...33,750,653 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		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 chrNW_004955407:32,974,656...33,007,073
Ensembl chrNW_004955407:32,974,725...33,006,297 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 More... NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		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 chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:30,804,769...31,178,420
Ensembl chrNW_004955407:30,803,653...30,942,854 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:32,876,380...32,916,036
Ensembl chrNW_004955407:32,874,905...32,916,036 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Early-onset Parkinson disease 20 ClinVar PMID:28492532 NCBI chrNW_004955407:31,849,103...31,915,457
Ensembl chrNW_004955407:31,848,012...31,915,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9441
            autosomal genetic disease 8759
              autosomal recessive disease 6144
                Parkinson's disease 20 34
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      nervous system disease 12089
        central nervous system disease 10855
          brain disease 10187
            movement disease 2340
              Parkinsonism 400
                Parkinson's disease 324
                  early-onset Parkinson's disease 95
                    Parkinson's disease 20 34
paths to the root