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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
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Accession:DOID:0050694 term browser browse the term
Definition:A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO)
Synonyms:exact_synonym: pontobulbar palsy and neurosensory deafness;   pontobulbar palsy with deafness;   progressive bulbar palsy with sensorineural deafness
 primary_id: MESH:C537111
 xref: OMIM:PS211530
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 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 ClinVar
OMIM
PMID:2020633 PMID:16122634 PMID:20206331 PMID:20920669 PMID:21110228 More... NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,319,429...108,330,023
Ensembl chr 7:108,319,434...108,329,934
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,377,943...108,380,824
Ensembl chr 7:108,364,381...108,380,021
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:107,962,194...107,965,368
Ensembl chr 7:107,962,207...107,965,366
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2
ClinVar Annotator: match by OMIM:614707
ClinVar Annotator: match by term: Brown-vialetto-van laere syndrome 2
OMIM
ClinVar
PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:22740598 More... NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,256,535...108,259,429 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Brown-Vialetto-Van Laere syndrome 29
        Brown-Vialetto-Van Laere syndrome 1 2
        Brown-Vialetto-Van Laere syndrome 2 28
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1343
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  sensorineural hearing loss 606
                    Brown-Vialetto-Van Laere syndrome 29
                      Brown-Vialetto-Van Laere syndrome 1 2
                      Brown-Vialetto-Van Laere syndrome 2 28
paths to the root