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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:late onset Parkinson's disease
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Accession:DOID:0060892 term browser browse the term
Definition:A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO)
Synonyms:exact_synonym: PD;   late onset Parkinson disease;   late onset Parkinson disease, hereditary
 narrow_synonym: PARK;   PARK18;   PARK24
 broad_synonym: ATXN3-RELATED CONDITION
 related_synonym: EIF4G1-RELATED CONDITION;   Parkinson disease 18, autosomal dominant, susceptibility to;   Parkinson disease 24, autosomal dominant, susceptibility to;   Parkinson disease, late-onset, susceptibility to;   Parkinson's disease 18, autosomal dominant, susceptibility to;   Parkinson's disease, late-onset, susceptibility to
 xref: MIM:168600;   MIM:614251;   MIM:619491;   MONDO:0008199;   ORDO:411602

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late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO OMIM NCBI chrNW_004624747:20,603,319...20,728,346
Ensembl chrNW_004624747:20,590,906...20,727,962 		JBrowse link
G Atxn3 ataxin 3 susceptibility ISO ClinVar Annotator: match by term: ATXN3-related condition ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:37091313 NCBI chrNW_004624734:8,685,994...8,726,329 JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624800:1,174,703...1,234,661
Ensembl chrNW_004624800:1,175,679...1,234,951 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: EIF4G1-related condition | ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to OMIM
ClinVar		 PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:72,251,840...72,271,724 JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 PMID:25741868 NCBI chrNW_004624769:22,325,936...22,334,608
Ensembl chrNW_004624769:22,310,396...22,334,182 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327 		JBrowse link
G LOC101706353 HLA class II histocompatibility antigen, DR alpha chain ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chrNW_004624754:24,079,459...24,086,342
Ensembl chrNW_004624754:24,079,366...24,084,512 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 More... NCBI chrNW_004624778:106,594...279,325
Ensembl chrNW_004624778:108,761...279,230 		JBrowse link
G Mapt microtubule associated protein tau ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9382467 PMID:9629852 PMID:9641683 More... NCBI chrNW_004624849:2,320,887...2,421,099 JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chrNW_004624732:9,572,160...9,589,624
Ensembl chrNW_004624732:9,581,779...9,589,942 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004624764:5,656,207...5,671,260
Ensembl chrNW_004624764:5,656,229...5,671,260 		JBrowse link
G Podxl podocalyxin like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 PMID:28492532 NCBI chrNW_004624783:4,840,072...4,888,709
Ensembl chrNW_004624783:4,840,164...4,888,705 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM		 PMID:2019586 PMID:9536098 PMID:17576681 PMID:19955343 PMID:25741868 More... NCBI chrNW_004624754:5,725,697...5,753,575
Ensembl chrNW_004624754:5,726,681...5,753,575 		JBrowse link
G Sncaip synuclein alpha interacting protein ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12761037 PMID:18366718 PMID:25741868 PMID:28492532 NCBI chrNW_004624774:19,702,884...19,853,952
Ensembl chrNW_004624774:19,702,565...19,827,374 		JBrowse link
G Tbp TATA-box binding protein ISO OMIM NCBI chrNW_004624850:6,359,382...6,375,391
Ensembl chrNW_004624850:6,359,418...6,375,391 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chrNW_004624914:160,483...188,534
Ensembl chrNW_004624914:160,483...188,490 		JBrowse link
Parkinson's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chrNW_004624757:17,652,112...17,721,030
Ensembl chrNW_004624757:17,628,421...17,724,327 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 OMIM
ClinVar		 PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chrNW_004624757:17,393,046...17,528,783
Ensembl chrNW_004624757:17,392,998...17,528,320 		JBrowse link
Parkinson's disease 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET OMIM
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chrNW_004624752:9,792,778...9,841,817
Ensembl chrNW_004624752:9,792,807...9,843,457 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chrNW_004624758:17,911,889...17,954,870
Ensembl chrNW_004624758:17,912,827...17,953,294 		JBrowse link
Parkinson's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chrNW_004624914:200,914...251,699
Ensembl chrNW_004624914:198,803...239,427 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease 17 | ClinVar Annotator: match by term: VPS35-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chrNW_004624914:160,483...188,534
Ensembl chrNW_004624914:160,483...188,490 		JBrowse link
Parkinson's disease 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease 21 ClinVar PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532 NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318 		JBrowse link
Parkinson's disease 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: CHCHD2-related condition | ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant OMIM
ClinVar		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chrNW_004624740:8,279,416...8,283,730
Ensembl chrNW_004624740:8,278,078...8,283,657 		JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 OMIM
ClinVar		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chrNW_004624757:17,393,046...17,528,783
Ensembl chrNW_004624757:17,392,998...17,528,320 		JBrowse link
Parkinson's disease 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition OMIM
ClinVar		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... NCBI chrNW_004624778:106,594...279,325
Ensembl chrNW_004624778:108,761...279,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Nutritional and Metabolic Diseases 6954
      disease of metabolism 6954
        Proteostasis Deficiencies 719
          synucleinopathy 353
            Parkinson's disease 322
              late onset Parkinson's disease 24
                Parkinson's disease 1 2
                Parkinson's disease 14 2
                Parkinson's disease 17 2
                Parkinson's disease 21 1
                Parkinson's disease 22 1
                Parkinson's disease 3 0
                Parkinson's disease 4 1
                Parkinson's disease 8 1
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            movement disease 2382
              Parkinsonism 402
                Parkinson's disease 322
                  late onset Parkinson's disease 24
                    Parkinson's disease 1 2
                    Parkinson's disease 14 2
                    Parkinson's disease 17 2
                    Parkinson's disease 21 1
                    Parkinson's disease 22 1
                    Parkinson's disease 3 0
                    Parkinson's disease 4 1
                    Parkinson's disease 8 1
paths to the root