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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 that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. (DO)
Synonyms:exact_synonym: DLB;   Lewy body disease;   Lewy body type senile dementia;   cortical Lewy body disease;   dementia with Lewy bodies;   diffuse Lewy body disease;   senile dementia of the Lewy body type
 narrow_synonym: DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY;   LEWY BODY VARIANT OF ALZHEIMER DISEASE;   LEWY BODY VARIANT OF ALZHEIMER'S DISEASE
 xref: EFO:0006792;   GARD:3243;   ICD10CM:G31.83;   ICD9CM:331.82;   MESH:D020961;   MIM:127750;   MONDO:0007488;   NCI:C84826
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Lewy body dementia term browser
Symbol Object Name 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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Becn1 beclin 1, autophagy related ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729 		JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO RGD PMID:15465084 RGD:1358509 NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 ISO RGD PMID:15465084 RGD:1358509 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		JBrowse link
G Eno2 enolase 2, gamma neuronal ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636 		JBrowse link
G Gba1 glucosylceramidase beta 1 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)		 ClinVar
OMIM
CTD
RGD		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... RGD:5508424, RGD:12791014 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 6:25,668,522...25,689,979
Ensembl chr 6:25,665,877...25,690,728 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		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 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 7:43,473,967...43,481,219
Ensembl chr 7:43,473,923...43,481,454 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742 		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 6:60,921,301...60,966,362
Ensembl chr 6:60,901,960...60,966,362 		JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO RGD PMID:10674474 RGD:1358529 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		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 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Snca synuclein, alpha ISO ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia
protein:increased expression:cerebrospinal fluid
protein:increased expression:hippocampus
CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebral spinal fluid:		 ClinVar
OMIM
CTD
RGD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 More... RGD:6478704, RGD:6478792, RGD:6480095, RGD:6480103, RGD:13506723 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		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 chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		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 chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name 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:1704891 PMID:1864608 PMID:1897529 PMID:1899336 More... NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Snca synuclein, alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:25393002 PMID:28492532 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		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 chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein, alpha ISO
IAGP		 ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4
OMIM:605543
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16260
    Diseases of the Aged 1290
      dementia 872
        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 16260
    disease of anatomical entity 15853
      nervous system disease 13790
        central nervous system disease 12307
          brain disease 11550
            disease of mental health 8338
              cognitive disorder 2207
                dementia 872
                  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