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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: MIM:201475;   OMIA:002140
 xref: GARD:5508;   NCI:C98647;   ORDO:26793


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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 ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar NCBI chr10:95,886,502...95,925,928
Ensembl chr10:95,887,465...95,925,578
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency OMIM
ClinVar
PMID:609575 PMID:2006090 PMID:2951924 PMID:4022672 PMID:7479827 More... NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979
JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,715,240...6,729,781
Ensembl chr16:6,715,278...6,729,864
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:5,804,774...5,820,793
Ensembl chr16:5,804,948...5,814,566
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 chr16:6,355,795...6,370,051
Ensembl chr16:6,356,058...6,369,738
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,454,950...7,470,949
Ensembl chr16:7,455,044...7,469,934
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,425,533...7,435,896
Ensembl chr16:7,425,990...7,435,327
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428
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 chr16:6,546,173...6,553,213
Ensembl chr16:6,546,404...6,551,456
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
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959
JBrowse link
G BACC1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,373,906...6,376,811
Ensembl chr16:6,374,142...6,376,611
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 chr16:6,380,406...6,388,931
Ensembl chr16:6,382,384...6,390,716
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,567,792...7,570,428
Ensembl chr16:7,568,521...7,569,594
JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,274,634...7,300,831
Ensembl chr16:7,276,850...7,300,832
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,821,842...6,832,758
Ensembl chr16:6,822,065...6,833,768
JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,632,695...6,635,994
Ensembl chr16:6,630,412...6,635,327
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 chr16:6,433,755...6,439,808
Ensembl chr16:6,433,573...6,437,509
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,320,557...7,337,746
Ensembl chr16:7,320,586...7,338,369
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754
JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,617,609...6,625,261
Ensembl chr16:6,617,966...6,625,342
JBrowse link
G CUNH17orf100 chromosome unknown C17orf100 homolog ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:6,033,819...6,036,649 JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,245,272...7,249,804
Ensembl chr16:7,245,660...7,247,156
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:23169530 PMID:23480858 More... NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,097,581...7,220,263
Ensembl chr16:7,103,152...7,220,397
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:11590124 PMID:14517516 More... NCBI chr16:6,599,056...6,608,613
Ensembl chr16:6,599,579...6,608,544
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,087,116...7,093,457
Ensembl chr16:7,087,584...7,093,621
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,949,574...6,956,540
Ensembl chr16:6,949,628...6,956,026
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,685,908...6,691,159 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,625,418...6,632,732
Ensembl chr16:6,625,723...6,635,327
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 chr16:6,137,561...6,152,853
Ensembl chr16:6,141,561...6,150,401
JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,814,392...6,821,727
Ensembl chr16:6,818,208...6,821,721
JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,969,019...6,995,178
Ensembl chr16:6,967,941...6,995,170
JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,614,478...6,616,516
Ensembl chr16:6,614,688...6,616,443
JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,690,831...6,694,245
Ensembl chr16:6,686,667...6,693,804
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,502,976...7,509,506
Ensembl chr16:7,503,932...7,506,448
JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,309,965...7,318,531 JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,730,139...6,733,225
Ensembl chr16:6,731,246...6,731,944
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,221,769...7,241,230
Ensembl chr16:7,232,426...7,241,040
JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:5,952,531...6,016,399
Ensembl chr16:5,953,965...6,010,611
JBrowse link
G LOC103242307 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,935,073...6,938,792
Ensembl chr16:6,926,584...6,938,019
JBrowse link
G MED31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:6,019,668...6,027,112 JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,961,117...6,965,991
Ensembl chr16:6,961,310...6,965,424
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,244,221...7,245,410
Ensembl chr16:7,244,227...7,245,081
JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,694,318...6,708,055
Ensembl chr16:6,694,187...6,707,979
JBrowse link
G NLGN2 neuroligin 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,781,510...6,796,304
Ensembl chr16:6,784,642...6,794,419
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,520,122...7,536,176
Ensembl chr16:7,520,006...7,531,940
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,618,952...7,639,700
Ensembl chr16:7,623,817...7,638,594
JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,609,106...6,613,693
Ensembl chr16:6,609,087...6,613,690
JBrowse link
G PIMREG PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:5,824,323...5,829,908 JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:5,830,107...5,934,979
Ensembl chr16:5,834,088...5,916,697
JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,765,320...6,770,568
Ensembl chr16:6,763,096...6,770,092
JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,860,487...6,889,054
Ensembl chr16:6,860,677...6,888,618
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,654,235...7,655,851
Ensembl chr16:7,654,439...7,655,703
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 chr16:6,371,729...6,373,817 JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,001,087...7,003,538
Ensembl chr16:7,001,259...7,002,270
JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,939,231...6,948,831
Ensembl chr16:6,940,281...6,949,221
JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,002,380...7,012,170
Ensembl chr16:7,008,682...7,012,764
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 chr16:6,060,445...6,089,867 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 chr16:6,400,197...6,403,431 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 chr16:6,394,311...6,399,151
Ensembl chr16:6,395,927...6,398,992
JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,655,826...7,661,499 JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,654,626...6,660,640
Ensembl chr16:6,654,608...6,661,495
JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,857,216...6,859,391 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,965,969...6,967,975
Ensembl chr16:6,962,350...6,967,799
JBrowse link
G SPEM1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,796,398...6,798,093
Ensembl chr16:6,796,842...6,798,058
JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,800,970...6,803,726
Ensembl chr16:6,801,835...6,803,655
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 chr16:6,161,826...6,184,735
Ensembl chr16:6,159,008...6,184,711
JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,811,966...6,814,303
Ensembl chr16:6,812,203...6,814,961
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,554,771...7,558,413
Ensembl chr16:7,555,009...7,557,085
JBrowse link
G TMEM256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,779,412...6,780,553
Ensembl chr16:6,779,067...6,780,693
JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,242,427...7,243,633
Ensembl chr16:7,242,600...7,243,239
JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,733,315...6,735,500
Ensembl chr16:6,733,479...6,734,906
JBrowse link
G TNFSF12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,926,302...6,935,070 JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,754,825...6,765,336
Ensembl chr16:6,758,127...6,766,886
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,318,771...7,320,461
Ensembl chr16:7,318,911...7,320,343
JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr16:6,016,273...6,018,500 JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,539,098...7,542,466 JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625
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 chr16:6,117,228...6,135,535
Ensembl chr16:6,118,094...6,134,902
JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,660,861...6,667,495 JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr16:6,836,070...6,855,523
Ensembl chr16:6,835,954...6,860,133
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Nutritional and Metabolic Diseases 7361
      disease of metabolism 7361
        lipid metabolism disorder 1706
          very long chain acyl-CoA dehydrogenase deficiency 86
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        peripheral nervous system disease 4165
          neuropathy 3976
            neuromuscular disease 3144
              muscular disease 2173
                very long chain acyl-CoA dehydrogenase deficiency 86
paths to the root