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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:Lewy body dementia
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Accession:DOID:12217 term browser browse the term
Definition:A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. (DO)
Synonyms:exact_synonym: DLB;   Diffuse Lewy Body Disease;   Lewy Body Type Senile Dementia;   Lewy body disease;   cortical Lewy body disease;   dementia with Lewy bodies;   senile dementia of the Lewy body type
 narrow_synonym: DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY;   LEWY BODY VARIANT OF ALZHEIMER DISEASE;   LEWY BODY VARIANT OF ALZHEIMER'S DISEASE
 primary_id: MESH:D020961
 alt_id: OMIM:127750
 xref: EFO:0006792;   GARD:3243;   ICD10CM:G31.83;   ICD9CM:331.82;   NCI:C84826
For additional species annotation, visit the Alliance of Genome Resources.


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Lewy body dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Gba1 glucosylceramidase beta 1 susceptibility ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation:cds:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... RGD:5508424, RGD:12791014 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebrospinal fluid
protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral spinal fluid:
ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia		 OMIM
CTD
ClinVar
RGD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 More... RGD:6478704, RGD:6478792, RGD:6480095, RGD:6480103, RGD:13506723 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
protein:increased expression:hippocampus		 CTD
ClinVar
OMIM
RGD		 PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid		 RGD PMID:20697047 PMID:10557341 PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:25393002 PMID:25741868 PMID:28492532 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO
ISS		 OMIM:605543
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4		 OMIM
MouseDO
CTD
ClinVar		 PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 More... NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1474
      dementia 874
        Lewy body dementia 40
          Autosomal Dominant Diffuse Lewy Body Disease 3
          Diffuse Lewy Body Disease with Gaze Palsy 0
          Parkinson's disease 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              cognitive disorder 2302
                dementia 874
                  Lewy body dementia 40
                    Autosomal Dominant Diffuse Lewy Body Disease 3
                    Diffuse Lewy Body Disease with Gaze Palsy 0
                    Parkinson's disease 4 1
paths to the root