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
Accession: DOID:0060369
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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 .
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
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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
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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
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
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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
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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
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