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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;   RDO:0011971
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: Parkinson disease 6, autosomal recessive early-onset ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET 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: PARKINSON DISEASE 6, EARLY-ONSET 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 chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by synonym: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar Annotator: match by term: PINK1-Related Parkinsonism
ClinVar Annotator: match by OMIM:605909
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2345993 PMID:2546640 PMID:15087508 PMID:15349860 PMID:15349870 PMID:15349871 PMID:15584030 PMID:15596610 PMID:15824318 PMID:15955953 PMID:15970950 PMID:16009891 PMID:16207217 PMID:16207731 PMID:16257123 PMID:16401616 PMID:16482571 PMID:16547921 PMID:16632486 PMID:16702191 PMID:16755580 PMID:16769864 PMID:16805805 PMID:16966503 PMID:16969854 PMID:17030667 PMID:17055324 PMID:17172567 PMID:17579517 PMID:17960343 PMID:18003639 PMID:18330912 PMID:18359116 PMID:18403612 PMID:18486522 PMID:18524835 PMID:18546294 PMID:18685134 PMID:18704525 PMID:18785233 PMID:19048950 PMID:19087301 PMID:19229105 PMID:19351622 PMID:19847793 PMID:19889566 PMID:19890973 PMID:20126261 PMID:20356854 PMID:20506312 PMID:20558144 PMID:20981092 PMID:21412950 PMID:21421046 PMID:21488273 PMID:21534944 PMID:21925922 PMID:21996382 PMID:22118943 PMID:22243833 PMID:22445250 PMID:22451330 PMID:22644621 PMID:22764206 PMID:22956510 PMID:23303188 PMID:23459931 PMID:23986421 PMID:24033266 PMID:24167364 PMID:24374372 PMID:24475098 PMID:24660942 PMID:25466404 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27003823 PMID:27094865 PMID:27574110 PMID:27884173 PMID:28492532 PMID:28849312 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                Parkinson's disease 6 6
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Parkinsonian Disorders 333
                Parkinson's disease 255
                  early-onset Parkinson's disease 17
                    Parkinson's disease 6 6
paths to the root