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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: OMIM:605909
 xref: NCI:C184990
For additional species annotation, visit the Alliance of Genome Resources.



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Parkinson's disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
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:11,736...13,565
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:13,543...14,061
JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274
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 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2345993 PMID:2546640 PMID:9536098 PMID:15087508 PMID:15349860 More... NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                Parkinson's disease 6 6
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        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 6 6
paths to the root