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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


show annotations for term's descendants           Sort by:
Parkinson's disease 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR7A2 aldo-keto reductase family 7 member A2 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,302,708...19,312,146
Ensembl chr 1:19,303,965...19,312,144 		JBrowse link
G AKR7A3 aldo-keto reductase family 7 member A3 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,274,229...19,288,770
Ensembl chr 1:19,282,573...19,288,770 		JBrowse link
G AKR7L aldo-keto reductase family 7 like (gene/pseudogene) IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,265,982...19,274,122
Ensembl chr 1:19,265,982...19,274,194 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G C1QA complement C1q A chain IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678 		JBrowse link
G C1QB complement C1q B chain IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637 		JBrowse link
G C1QC complement C1q C chain IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,482,391...20,486,210
Ensembl chr 1:20,482,391...20,486,210 		JBrowse link
G CAPZB capping actin protein of muscle Z-line subunit beta IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,338,775...19,485,539
Ensembl chr 1:19,338,775...19,485,539 		JBrowse link
G CDA cytidine deaminase IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,589,097...20,618,903
Ensembl chr 1:20,589,086...20,618,903 		JBrowse link
G CDC42 cell division cycle 42 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CELA3A chymotrypsin like elastase 3A IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,001,657...22,012,542
Ensembl chr 1:22,001,657...22,012,542 		JBrowse link
G CELA3B chymotrypsin like elastase 3B IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,977,022...21,998,642
Ensembl chr 1:21,977,022...21,998,642 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EIF4G3 eukaryotic translation initiation factor 4 gamma 3 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,806,292...21,176,897
Ensembl chr 1:20,806,292...21,177,285 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EPHA8 EPH receptor A8 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,563,489...22,603,595
Ensembl chr 1:22,563,489...22,603,595 		JBrowse link
G FAM43B family with sequence similarity 43 member B IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,552,573...20,555,020
Ensembl chr 1:20,552,573...20,555,020 		JBrowse link
G HP1BP3 heterochromatin protein 1 binding protein 3 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,740,266...20,787,307
Ensembl chr 1:20,740,266...20,787,323 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,664,875...19,680,966
Ensembl chr 1:19,664,875...19,680,966 		JBrowse link
G IFFO2 intermediate filament family orphan 2 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:18,904,280...18,956,676
Ensembl chr 1:18,904,280...18,956,676 		JBrowse link
G KIF17 kinesin family member 17 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,661,630...20,718,007
Ensembl chr 1:20,664,014...20,718,017 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225 		JBrowse link
G MICOS10 mitochondrial contact site and cristae organizing system subunit 10 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,596,979...19,629,820
Ensembl chr 1:19,484,403...19,629,821 		JBrowse link
G MICOS10-NBL1 MICOS10-NBL1 readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,596,979...19,658,452
Ensembl chr 1:19,597,067...19,656,927
Ensembl chr 1:19,597,067...19,656,927 		JBrowse link
G MIR6084 microRNA 6084 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar Annotator: match by term: PINK1-Related Parkinsonism		 ClinVar PMID:15349860 PMID:16009891 PMID:18330912 PMID:23063710 PMID:23303188 More... NCBI chr 1:20,633,679...20,633,788
Ensembl chr 1:20,633,679...20,633,788 		JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,251,805...19,260,128
Ensembl chr 1:19,251,805...19,260,128 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:18524835 PMID:21457906 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MTFP1 mitochondrial fission process 1 IEP mRNA:decreased expression:brain (mouse) RGD PMID:19492057 RGD:12880394 NCBI chr22:30,425,768...30,429,054
Ensembl chr22:30,425,623...30,429,054 		JBrowse link
G MUL1 mitochondrial E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,499,448...20,508,151
Ensembl chr 1:20,499,448...20,508,151 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,643,229...19,658,452
Ensembl chr 1:19,596,979...19,658,456 		JBrowse link
G NBPF3 NBPF member 3 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,436,789...21,484,900
Ensembl chr 1:21,440,128...21,485,005 		JBrowse link
G OTUD3 OTU deubiquitinase 3 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,882,395...19,912,945
Ensembl chr 1:19,882,395...19,912,945 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ClinVar PMID:16632486 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP
ISS
EXP		 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, EARLY-ONSET
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET
OMIM:605909
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar Annotator: match by term: Parkinson disease 6		 ClinVar
MouseDO
CTD
OMIM		 PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PINK1-AS PINK1 antisense RNA IAGP 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: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET
ClinVar Annotator: match by term: Parkinson disease 6
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1		 ClinVar PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More... NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193 		JBrowse link
G PLA2G2A phospholipase A2 group IIA IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416 		JBrowse link
G PLA2G2C phospholipase A2 group IIC IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,163,055...20,186,518
Ensembl chr 1:20,161,253...20,186,518 		JBrowse link
G PLA2G2D phospholipase A2 group IID IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,111,939...20,119,536
Ensembl chr 1:20,111,939...20,119,566 		JBrowse link
G PLA2G2E phospholipase A2 group IIE IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,920,009...19,923,617
Ensembl chr 1:19,920,009...19,923,617 		JBrowse link
G PLA2G2F phospholipase A2 group IIF IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,139,323...20,150,381
Ensembl chr 1:20,139,323...20,150,381 		JBrowse link
G PLA2G5 phospholipase A2 group V IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,028,408...20,091,911
Ensembl chr 1:20,028,179...20,091,911 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,596,221...21,669,357
Ensembl chr 1:21,596,221...21,669,357 		JBrowse link
G RNF186 ring finger protein 186 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,814,029...19,815,283
Ensembl chr 1:19,814,029...19,815,283 		JBrowse link
G SH2D5 SH2 domain containing 5 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,719,731...20,732,703
Ensembl chr 1:20,719,731...20,732,837 		JBrowse link
G SLC66A1 solute carrier family 66 member 1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,312,326...19,334,463
Ensembl chr 1:19,312,326...19,329,300 		JBrowse link
G TMCO4 transmembrane and coiled-coil domains 4 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,682,240...19,799,916
Ensembl chr 1:19,682,240...19,799,945 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:19,074,510...19,210,266
Ensembl chr 1:19,074,510...19,210,266 		JBrowse link
G UBXN10 UBX domain protein 10 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,183,331...20,196,050
Ensembl chr 1:20,186,096...20,196,050 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G VWA5B1 von Willebrand factor A domain containing 5B1 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:20,290,875...20,359,518
Ensembl chr 1:20,290,875...20,359,518 		JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G ZBTB40 zinc finger and BTB domain containing 40 IAGP ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 ClinVar PMID:28492532 NCBI chr 1:22,428,909...22,531,154
Ensembl chr 1:22,428,838...22,531,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36466
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33608
        genetic disease 33189
          polygenic disease 1005
            digenic disease 1005
              Parkinson's disease 6 57
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        central nervous system disease 23473
          brain disease 21908
            movement disease 3275
              Parkinsonism 499
                Parkinson's disease 415
                  early-onset Parkinson's disease 127
                    Parkinson's disease 6 57
paths to the root