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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


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Parkinson's disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
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 chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989
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 chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191
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 chrNW_004936474:6,463,691...6,466,641
Ensembl chrNW_004936474:6,461,050...6,466,641
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 chrNW_004936474:5,594,193...5,656,665
Ensembl chrNW_004936474:5,594,152...5,709,315
JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:6,543,295...6,564,575
Ensembl chrNW_004936474:6,543,220...6,566,308
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 chrNW_004936474:7,556,765...7,598,687 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 chrNW_004936474:6,589,939...6,597,951
Ensembl chrNW_004936474:6,589,798...6,598,379
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 chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005
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 chrNW_004936474:6,718,719...7,004,066
Ensembl chrNW_004936474:6,719,370...7,004,972
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 chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237
JBrowse link
G Epha8 EPH receptor A8 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:7,928,700...7,981,961
Ensembl chrNW_004936474:7,928,700...7,981,962
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 chrNW_004936474:6,516,059...6,519,749
Ensembl chrNW_004936474:6,517,785...6,518,771
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 chrNW_004936474:6,665,989...6,699,722
Ensembl chrNW_004936474:6,665,507...6,700,152
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 chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851
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 chrNW_004936474:5,848,719...5,858,520
Ensembl chrNW_004936474:5,848,707...5,859,749
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 chrNW_004936474:5,248,342...5,290,908
Ensembl chrNW_004936474:5,248,336...5,291,096
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 chrNW_004936474:6,598,641...6,642,491
Ensembl chrNW_004936474:6,600,209...6,642,496
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 chrNW_004936474:7,375,439...7,407,318 JBrowse link
G LOC101960229 complement C1q subcomponent subunit C ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:8,013,395...8,016,937
Ensembl chrNW_004936474:8,013,359...8,016,959
JBrowse link
G LOC101974041 aflatoxin B1 aldehyde reductase member 2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:5,565,715...5,573,048 JBrowse link
G LOC101975825 group IIF secretory phospholipase A2 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:6,186,604...6,192,621
Ensembl chrNW_004936474:6,186,604...6,192,621
JBrowse link
G LOC101976106 uncharacterized LOC101976106 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:6,207,021...6,212,347 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 chrNW_004936474:5,787,939...5,816,133
Ensembl chrNW_004936474:5,788,004...5,815,902
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 chrNW_004936474:5,539,306...5,546,085
Ensembl chrNW_004936474:5,539,246...5,546,087
JBrowse link
G Mtfp1 mitochondrial fission process 1 ISO mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chrNW_004936904:249,842...253,349
Ensembl chrNW_004936904:245,913...253,216
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 chrNW_004936474:6,479,640...6,486,080
Ensembl chrNW_004936474:6,477,504...6,486,660
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 chrNW_004936474:5,820,798...5,843,291
Ensembl chrNW_004936474:5,840,240...5,859,749
JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chrNW_004936474:5,994,019...6,010,101
Ensembl chrNW_004936474:5,994,076...6,011,799
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 chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817
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 OMIM
ClinVar
PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478
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 chrNW_004936474:6,091,978...6,095,961
Ensembl chrNW_004936474:6,091,941...6,096,057
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 chrNW_004936474:6,167,507...6,172,750
Ensembl chrNW_004936474:6,167,507...6,172,750
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 chrNW_004936474:6,131,915...6,150,810
Ensembl chrNW_004936474:6,131,884...6,150,819
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 chrNW_004936474:7,242,528...7,284,342
Ensembl chrNW_004936474:7,242,824...7,284,395
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 chrNW_004936474:5,947,077...5,947,772 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 chrNW_004936474:6,643,915...6,654,810
Ensembl chrNW_004936474:6,643,395...6,655,383
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 chrNW_004936474:5,573,175...5,588,319
Ensembl chrNW_004936474:5,576,507...5,590,279
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 chrNW_004936474:5,860,263...5,936,648
Ensembl chrNW_004936474:5,860,906...5,921,076
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 chrNW_004936474:5,373,303...5,492,950
Ensembl chrNW_004936474:5,373,186...5,493,635
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 chrNW_004936474:6,219,665...6,227,617
Ensembl chrNW_004936474:6,224,767...6,225,612
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 chrNW_004936474:7,307,475...7,376,086
Ensembl chrNW_004936474:7,307,439...7,376,074
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 chrNW_004936474:6,322,852...6,359,160
Ensembl chrNW_004936474:6,322,852...6,359,160
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 chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664
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 chrNW_004936474:7,848,735...7,926,506
Ensembl chrNW_004936474:7,848,750...7,928,396
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          polygenic disease 720
            digenic disease 720
              Parkinson's disease 6 45
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            movement disease 2371
              Parkinsonism 405
                Parkinson's disease 327
                  early-onset Parkinson's disease 94
                    Parkinson's disease 6 45
paths to the root