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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:Leukoaraiosis
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Accession:DOID:9001620 term browser browse the term
Definition:Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS.
Synonyms:exact_synonym: Leukoaraioses
 primary_id: MESH:D049292;   RDO:0007557
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Leukoaraiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:1670590, PMID:1671769, PMID:7815434, PMID:7825603, PMID:8095918, PMID:8455580, PMID:8962139, PMID:9090526, PMID:9096767, PMID:9600244, PMID:10477432, PMID:11456299, PMID:15952986, PMID:18786133, PMID:20301309, PMID:21167507, PMID:25741868, PMID:26462614, PMID:28492532, PMID:30311386 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cldn1 claudin 1 ISO DNA:SNPs: :rs17501010, rs893051,rs9290927(human) RGD PMID:25956626 RGD:11344876 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Klc1 kinesin light chain 1 ISO associated with hypertension;DNA:polymorphism:intron:5836G>C(human)
associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human)
RGD PMID:17917076, PMID:17977659 RGD:5683912, RGD:5683914 NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Pmf1 polyamine-modulated factor 1 susceptibility ISO DNA:SNP: :rs2984613(human) RGD PMID:31396257 RGD:30296652 NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:30311386 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:30311386 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:30311386 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link

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  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Leukoaraiosis 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.