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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
 related_synonym: 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
 primary_id: OMIM:168600
 alt_id: OMIM:614251;   OMIM:619491
 xref: 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 Adh1 alcohol dehydrogenase 1 (class I) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar
OMIM		 PMID:25741868 NCBI chr 3:137,983,346...137,996,459
Ensembl chr 3:137,966,752...137,996,459 		JBrowse link
G Atxn2 ataxin 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 5:121,849,794...121,954,372
Ensembl chr 5:121,849,400...121,954,556 		JBrowse link
G Atxn3 ataxin 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		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 chr 5:29,940,896...29,991,476
Ensembl chr 5:29,940,686...30,023,132 		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 chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129 		JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4, gamma 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to		 OMIM
CTD
ClinVar		 PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532 NCBI chr16:20,491,457...20,511,633
Ensembl chr16:20,487,063...20,511,634 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chr 8:40,732,206...40,740,060
Ensembl chr 8:40,732,207...40,761,372 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar
OMIM		 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 More... NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G H2-Ea histocompatibility 2, class II antigen E alpha ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618 		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 chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:8104867 PMID:15972314 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar		 PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chr 2:56,996,845...57,014,152
Ensembl chr 2:56,996,842...57,014,015 		JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894 		JBrowse link
G Pink1 PTEN induced putative kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618 		JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 PMID:28492532 NCBI chr 6:31,496,428...31,540,872
Ensembl chr 6:31,496,423...31,540,916 		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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30632081 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Sncaip synuclein, alpha interacting protein (synphilin) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset		 CTD
ClinVar		 PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr18:52,900,872...53,049,007
Ensembl chr18:52,900,781...53,049,007 		JBrowse link
G Tbp TATA box binding protein ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 8:85,987,014...86,026,146
Ensembl chr 8:85,987,021...86,026,431 		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 chr 6:60,921,301...60,966,362
Ensembl chr 6:60,901,960...60,966,362 		JBrowse link
G Snca synuclein, alpha ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1
OMIM:168601		 OMIM
CTD
ClinVar
MouseDO		 PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 More... NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		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
IAGP		 OMIM:612953
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET		 OMIM
MouseDO
CTD
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590 		JBrowse link
G Slc39a14 solute carrier family 39 (zinc transporter), member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874 		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 chr 8:86,050,933...86,112,969
Ensembl chr 8:86,050,932...86,112,974 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Parkinson disease 17 ClinVar PMID:28492532 NCBI chr 8:86,026,261...86,034,908
Ensembl chr 8:86,026,261...86,034,907 		JBrowse link
G Vps35 VPS35 retromer complex component ISO
IAGP		 OMIM:614203
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease 17		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 More... NCBI chr 8:85,987,014...86,026,146
Ensembl chr 8:85,987,021...86,026,431 		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 chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129 		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: Parkinson disease 22, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 More... NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4		 OMIM
CTD
ClinVar		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		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 DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... RGD:5508405 NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        Proteostasis Deficiencies 783
          synucleinopathy 401
            Parkinson's disease 369
              late onset Parkinson's disease 29
                Parkinson's disease 1 2
                Parkinson's disease 14 2
                Parkinson's disease 17 3
                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 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            movement disease 2557
              Parkinsonism 451
                Parkinson's disease 369
                  late onset Parkinson's disease 29
                    Parkinson's disease 1 2
                    Parkinson's disease 14 2
                    Parkinson's disease 17 3
                    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