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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 6
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Accession:DOID:0060369 term browser browse the term
Definition:An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)
Synonyms:exact_synonym: PARK6;   PINK1-related parkinsonism;   Parkinson disease 6;   autosomal recessive early-onset Parkinson disease 6;   autosomal recessive early-onset Parkinson's disease 6;   early-onset Parkinson disease 6
 narrow_synonym: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO;   PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1;   PARKINSON'S DISEASE 6, EARLY-ONSET;   PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO;   PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
 primary_id: MESH:C565276
 alt_id: MIM:605909
 xref: NCI:C184990


show annotations for term's descendants           Sort by:
Parkinson's disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,835,589...156,844,127
Ensembl chr 5:156,835,551...156,844,109 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,876,721...156,884,599
Ensembl chr 5:156,874,086...156,885,153 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:157,163,189...157,188,673
Ensembl chr 5:157,162,945...157,188,673 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,718,619...156,818,623
Ensembl chr 5:156,650,432...156,818,619 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,839,929...155,866,541
Ensembl chr 5:155,839,929...155,866,541 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,912,170...154,920,333
Ensembl chr 5:154,912,170...154,920,333 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:155,805,612...155,812,728
Ensembl chr 5:155,805,454...155,813,121 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:155,360,639...155,462,719 		JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,481,378...155,702,194
Ensembl chr 5:155,481,378...155,702,194 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:156,891,773...156,917,092 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,449,566...154,476,966
Ensembl chr 5:154,449,566...154,476,966 		JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,893,961...155,896,359
Ensembl chr 5:155,893,968...155,898,755 		JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,719,109...155,746,329
Ensembl chr 5:155,719,115...155,746,325 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,579,901...156,595,147
Ensembl chr 5:156,579,901...156,595,147 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:157,114,089...157,160,135
Ensembl chr 5:157,114,089...157,160,135 		JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,765,592...155,802,941
Ensembl chr 5:155,765,592...155,803,247 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:155,062,208...155,070,715 		JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,624,356...156,650,631
Ensembl chr 5:156,624,357...156,650,633 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,884,985...156,891,738
Ensembl chr 5:156,884,985...156,891,738 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049 		JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:83,192,013...83,195,853
Ensembl chr14:83,192,021...83,195,927 		JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,936,112...155,945,163
Ensembl chr 5:155,936,111...155,945,163 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,601,986...156,613,182
Ensembl chr 5:156,601,986...156,613,186 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,419,099...156,445,341
Ensembl chr 5:156,423,332...156,445,540 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:166,636,552...166,659,825 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:605909
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 		OMIM
CTD
MouseDO
ClinVar		 PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:155,813,838...155,825,950 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,241,142...156,262,368
Ensembl chr 5:156,242,451...156,264,676 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,299,374...156,305,816
Ensembl chr 5:156,297,777...156,305,812 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,404,639...156,410,421
Ensembl chr 5:156,404,639...156,410,408 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,270,077...156,276,464
Ensembl chr 5:156,270,077...156,295,516 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,324,628...156,393,065
Ensembl chr 5:156,324,629...156,381,926 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,157,511...155,222,622
Ensembl chr 5:155,157,558...155,222,622 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,493,750...156,494,974
Ensembl chr 5:156,493,752...156,494,978 		JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,753,087...155,763,936
Ensembl chr 5:155,750,803...155,763,936 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,821,084...156,835,558
Ensembl chr 5:156,825,590...156,835,473 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,498,506...156,577,967
Ensembl chr 5:156,500,011...156,577,969 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,919,029...157,027,127
Ensembl chr 5:156,919,085...157,027,127 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,237,041...156,242,877
Ensembl chr 5:156,216,565...156,243,741 		JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:155,083,520...155,151,208
Ensembl chr 5:155,083,587...155,151,208 		JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:156,080,599...156,148,155
Ensembl chr 5:156,080,039...156,135,799 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:154,797,311...154,817,128 		JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 5:154,499,952...154,569,390
Ensembl chr 5:154,503,128...154,537,863 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        genetic disease 13375
          polygenic disease 741
            digenic disease 741
              Parkinson's disease 6 51
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            movement disease 2631
              Parkinsonism 459
                Parkinson's disease 376
                  early-onset Parkinson's disease 100
                    Parkinson's disease 6 51
paths to the root