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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:very long chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080155 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)
Synonyms:exact_synonym: ACADVL;   ACADVLD;   VLCAD deficiency;   VLCAD-C;   VLCAD-H;   deficiency of very long-chain Acyl-CoA dehydrogenase;   very long-chain Acyl Coenzyme A dehydrogenase deficiency
 related_synonym: exercise induced metabolic myopathy
 primary_id: MESH:C536353
 alt_id: OMIA:002140;   OMIM:201475
 xref: NCI:C98647
For additional species annotation, visit the Alliance of Genome Resources.



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very long chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadl acyl-CoA dehydrogenase, long chain ISO
ISS
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
OMIM:201475
ClinVar
MouseDO
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by OMIM:201475
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:609575 PMID:2006090 PMID:2951924 PMID:4022672 PMID:7479827 More... NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:16199547 PMID:23480858 PMID:25741868 More... NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9839948 PMID:9973285 PMID:10077518 PMID:14517516 PMID:17374501 More... NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,954,904...54,956,622 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        lipid metabolism disorder 1017
          very long chain acyl-CoA dehydrogenase deficiency 18
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                very long chain acyl-CoA dehydrogenase deficiency 18
paths to the root