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
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:15349871 PMID:15584030 PMID:15596610 PMID:15824318 PMID:15955953 PMID:15970950 PMID:16009891 PMID:16199547 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:17415511 PMID:17576681 PMID:17579517 PMID:17960343 PMID:18003639 PMID:18286320 PMID:18330912 PMID:18359116 PMID:18403612 PMID:18486522 PMID:18524835 PMID:18541801 PMID:18546294 PMID:18685134 PMID:18704525 PMID:18785233 PMID:19087301 PMID:19229105 PMID:19242547 PMID:19351622 PMID:19847793 PMID:19880420 PMID:19889566 PMID:19890973 PMID:20126261 PMID:20356854 PMID:20506312 PMID:20547144 PMID:20558144 PMID:20798600 PMID:20981092 PMID:21412950 PMID:21488273 PMID:21534944 PMID:21925922 PMID:21996382 PMID:22118943 PMID:22238344 PMID:22243833 PMID:22445250 PMID:22451330 PMID:22644621 PMID:22764206 PMID:22956510 PMID:23063710 PMID:23303188 PMID:23334666 PMID:23459931 PMID:23880019 PMID:23986421 PMID:24033266 PMID:24167364 PMID:24374372 PMID:24660942 PMID:24677602 PMID:25466404 PMID:25558820 PMID:25627829 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27094865 PMID:27574110 PMID:27884173 PMID:28492532 PMID:28502045 PMID:28849312 PMID:29091718 PMID:29255601 PMID:29655942 PMID:30502028 PMID:31217084 PMID:32249012 PMID:32446772 PMID:32713623 PMID:32861104 PMID:32870915 PMID:33045815 PMID:33601107 PMID:33845304 PMID:34148545 PMID:34159639 PMID:35844286 PMID:36774704 More...
NCBI chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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