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: MIM:605909
xref: NCI:C184990
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Akr7a2
aldo-keto reductase family 7, member A2
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:156,835,589...156,844,127
Ensembl chr 5:156,835,551...156,844,109
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Akr7a3
aldo-keto reductase family 7 member A3
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:156,876,721...156,884,599
Ensembl chr 5:156,874,086...156,885,153
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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 chr 5:157,163,189...157,188,673
Ensembl chr 5:157,162,945...157,188,673
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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 chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167
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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 chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732
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C1qb
complement C1q B chain
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840
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C1qc
complement C1q C chain
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468
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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 chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
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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 chr 5:156,718,619...156,818,623
Ensembl chr 5:156,650,432...156,818,619
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Cda
cytidine deaminase
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:155,839,929...155,866,541
Ensembl chr 5:155,839,929...155,866,541
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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 chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627
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Cela3b
chymotrypsin like elastase 3B
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:154,912,170...154,920,333
Ensembl chr 5:154,912,170...154,920,333
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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 chr 5:155,805,612...155,812,728
Ensembl chr 5:155,805,454...155,813,121
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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 chr 5:155,361,031...155,462,723
Ensembl chr 5:155,360,639...155,462,719
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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 chr 5:155,481,378...155,702,194
Ensembl chr 5:155,481,378...155,702,194
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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 chr 5:156,891,773...156,917,092
Ensembl chr 5:156,891,773...156,917,092
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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 chr 5:154,449,566...154,476,966
Ensembl chr 5:154,449,566...154,476,966
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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 chr 5:155,893,961...155,896,359
Ensembl chr 5:155,893,968...155,898,755
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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 chr 5:155,719,109...155,746,329
Ensembl chr 5:155,719,115...155,746,325
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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 chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971
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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 chr 5:156,579,901...156,595,147
Ensembl chr 5:156,579,901...156,595,147
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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 chr 5:157,114,089...157,160,135
Ensembl chr 5:157,114,089...157,160,135
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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 chr 5:155,765,592...155,802,941
Ensembl chr 5:155,765,592...155,803,247
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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 chr 5:155,062,172...155,070,752
Ensembl chr 5:155,062,208...155,070,715
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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 chr 5:156,624,356...156,650,631
Ensembl chr 5:156,624,357...156,650,633
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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 chr 5:156,884,985...156,891,738
Ensembl chr 5:156,884,985...156,891,738
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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:11,721...13,553
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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:13,531...14,049
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Mtfp1
mitochondrial fission process 1
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:19492057
RGD:12880394
NCBI chr14:83,192,013...83,195,853
Ensembl chr14:83,192,021...83,195,927
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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 chr 5:155,936,112...155,945,163
Ensembl chr 5:155,936,111...155,945,163
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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 chr 5:156,601,986...156,613,182
Ensembl chr 5:156,601,986...156,613,186
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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 chr 5:156,419,099...156,445,341
Ensembl chr 5:156,423,332...156,445,540
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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 chr 5:166,636,551...166,659,825
Ensembl chr 5:166,636,552...166,659,825
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Pink1
PTEN induced kinase 1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:605909 ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | 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 CTD MouseDO 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:17344846 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:19048950 PMID:19087301 PMID:19242547 PMID:19351622 PMID:19405094 PMID:19500570 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:21421046 PMID:21488273 PMID:21534944 PMID:21700325 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:24475098 PMID:24660942 PMID:24677602 PMID:25226871 PMID:25466404 PMID:25558820 PMID:25741868 PMID:26274610 PMID:26467025 PMID:26595808 PMID:27003823 PMID:27094865 PMID:27574110 PMID:27807026 PMID:27884173 PMID:28492532 PMID:28502045 PMID:28849312 PMID:29091718 PMID:29255601 PMID:29331938 PMID:29655942 PMID:29887346 PMID:30502028 PMID:31217084 PMID:32249012 PMID:32446772 PMID:32613234 PMID:32713623 PMID:32740907 PMID:32861104 PMID:32870915 PMID:33045815 PMID:33098801 PMID:33601107 PMID:33845304 PMID:34148545 PMID:34159639 PMID:34426522 PMID:34893635 PMID:35042401 PMID:35844286 PMID:35872528 PMID:35954270 PMID:36409355 PMID:36469690 PMID:36774704 PMID:37256495 PMID:37750340 PMID:38173558 PMID:38529492 More...
NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:155,813,838...155,825,950
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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 chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297
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Pla2g2c
phospholipase A2, group IIC
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:156,241,142...156,262,368
Ensembl chr 5:156,242,451...156,264,676
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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 chr 5:156,299,374...156,305,816
Ensembl chr 5:156,297,777...156,305,812
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Pla2g2e
phospholipase A2, group IIE
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:156,404,639...156,410,421
Ensembl chr 5:156,404,639...156,410,408
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Pla2g2f
phospholipase A2, group IIF
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 5:156,270,077...156,276,464
Ensembl chr 5:156,270,077...156,295,516
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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 chr 5:156,324,628...156,393,065
Ensembl chr 5:156,324,629...156,381,926
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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 chr 5:155,157,511...155,222,622
Ensembl chr 5:155,157,558...155,222,622
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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 chr 5:156,493,750...156,494,974
Ensembl chr 5:156,493,752...156,494,978
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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 chr 5:155,753,087...155,763,936
Ensembl chr 5:155,750,803...155,763,936
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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 chr 5:156,821,084...156,835,558
Ensembl chr 5:156,825,590...156,835,473
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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 chr 5:156,498,506...156,577,967
Ensembl chr 5:156,500,011...156,577,969
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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 chr 5:156,919,029...157,027,127
Ensembl chr 5:156,919,085...157,027,127
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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 chr 5:156,237,041...156,242,877
Ensembl chr 5:156,216,565...156,243,741
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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 chr 5:155,083,520...155,151,208
Ensembl chr 5:155,083,587...155,151,208
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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 chr 5:156,080,599...156,148,155
Ensembl chr 5:156,080,039...156,135,799
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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 chr 5:154,797,245...154,818,565
Ensembl chr 5:154,797,311...154,817,128
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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 chr 5:154,499,952...154,569,390
Ensembl chr 5:154,503,128...154,537,863
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