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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:Brown-Vialetto-Van Laere syndrome 1
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Accession:DOID:0080785 term browser browse the term
Definition:A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)
Synonyms:exact_synonym: BVVLS1
 primary_id: OMIM:211530
 xref: NCI:C133724
For additional species annotation, visit the Alliance of Genome Resources.



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Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,581,593...140,593,299
Ensembl chr 3:140,581,593...140,593,299
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16122634 PMID:17576681 PMID:20206331 PMID:20920669 More... NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      Brown-Vialetto-Van Laere syndrome 58
        Brown-Vialetto-Van Laere syndrome 1 8
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          Otorhinolaryngologic Diseases 1664
            auditory system disease 1068
              Hearing Disorders 805
                Hearing Loss 801
                  sensorineural hearing loss 659
                    Brown-Vialetto-Van Laere syndrome 58
                      Brown-Vialetto-Van Laere syndrome 1 8
paths to the root