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leukoencephalopathy with vanishing white matter 5 - Ontology Report - Rat Genome Database

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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:leukoencephalopathy with vanishing white matter 5
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Accession:DOID:0070367 term browser browse the term
Definition:A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: CLE;   Cree leukoencephalopathy;   EIF2B5-RELATED CONDITION;   VWM5
 primary_id: MIM:620315
 alt_id: DOID:9005314
 xref: ORDO:99854

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leukoencephalopathy with vanishing white matter 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11835386 PMID:16199547 PMID:18263758 PMID:25741868 PMID:26285592 More... NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11704758 PMID:12707859 PMID:15054402 PMID:15060152 PMID:15136673 More... NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:16807905 PMID:18263758 PMID:19909266 PMID:25741868 PMID:28492532 More... NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 More... NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
ClinVar Annotator: match by term: Cree leukoencephalopathy		 OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 More... NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G GTF3C2-AS2 GTF3C2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:15136673 PMID:15507143 PMID:16998732 PMID:18263758 PMID:20016818 More... NCBI chr 2:27,356,765...27,367,880
Ensembl chr 2:27,356,246...27,367,881 		JBrowse link
G LOC126861664 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 IAGP ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:18263758 PMID:25741868 PMID:26285592 PMID:28492532 PMID:31882561 More... NCBI chr12:123,621,377...123,622,576 JBrowse link
G LOC129938041 ATAC-STARR-seq lymphoblastoid silent region 14954 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
ClinVar Annotator: match by term: EIF2B5-related condition		 ClinVar PMID:15054402 PMID:15136673 PMID:17646634 PMID:21560189 PMID:23335982 More... NCBI chr 3:184,135,458...184,135,567 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146823
    disease of anatomical entity 133897
      endocrine system disease 24672
        gonadal disease 2578
          ovarian disease 1896
            leukoencephalopathy with vanishing white matter 15
              leukoencephalopathy with vanishing white matter 5 8
Path 2
Term Annotations click to browse term
  disease 146823
    disease of anatomical entity 133897
      Urogenital Diseases 15513
        Female Urogenital Diseases and Pregnancy Complications 5997
          Female Urogenital Diseases 4990
            female reproductive system disease 4987
              Adnexal Diseases 1905
                ovarian disease 1896
                  leukoencephalopathy with vanishing white matter 15
                    leukoencephalopathy with vanishing white matter 5 8
paths to the root