Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
go back to main search page
Accession:DOID:0070541 term browser browse the term
Definition:An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: 3-Hydroxyl 3-Methyl Glutaric Aciduria;   3-hydroxy 3-methyl glutaric aciduria;   3-hydroxy-3-methylglutaric aciduria;   3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency;   Deficiency of Hydroxymethylglutaryl-CoA Lyase;   HL DEFICIENCY;   HMG CoA lyase deficiency;   HMGCL deficiency;   HMGCLD;   hydroxymethylglutaric aciduria
 alt_id: DOID:9006234
 xref: GARD:8387;   MESH:C538324;   MIM:246450;   MONDO:0009520;   NCI:C84523;   ORDO:20


show annotations for term's descendants           Sort by:
3-hydroxy-3-methylglutaryl-CoA lyase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7, member A2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909 		JBrowse link
G Akr7a3 aldo-keto reductase family 7 member A3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,590,968...151,601,394
Ensembl chr 5:151,584,479...151,601,394 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,433,382...148,476,027
Ensembl chr 5:148,433,494...148,474,073 		JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413 		JBrowse link
G E2f2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma, 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,197,410...150,418,862
Ensembl chr 5:150,195,226...150,418,363 		JBrowse link
G Eloa elongin A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,231,600...148,246,760
Ensembl chr 5:148,231,596...148,246,765 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399 		JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Fam43b family with sequence similarity 43, member B ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,610,656...150,613,054
Ensembl chr 5:150,611,609...150,612,601 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:9817922 PMID:17692550 PMID:23465862 PMID:28492532 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:8798725 PMID:9784232 PMID:9817922 PMID:14518825 PMID:16301867 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: HMGCL DEFICIENCY | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria		 OMIM
CTD
ClinVar		 PMID:2443756 PMID:6085636 PMID:7479590 PMID:8617516 PMID:8798725 More... NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Hnrnpr heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867 		JBrowse link
G Hp1bp3 heterochromatin protein 1, binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,435,781...150,463,004
Ensembl chr 5:150,433,740...150,463,000 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Htr1d 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,656,252...148,676,532
Ensembl chr 5:148,674,495...148,675,619 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,295,269...151,312,853
Ensembl chr 5:151,296,662...151,311,912 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349 		JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,830,900...151,876,948
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332 		JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296 		JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,482,288...150,521,471
Ensembl chr 5:150,481,578...150,519,638 		JBrowse link
G Lactbl1 lactamase beta like 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,862,736...148,882,108
Ensembl chr 5:148,870,245...148,879,226 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Luzp1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,706,094...148,781,616
Ensembl chr 5:148,706,138...148,781,609 		JBrowse link
G Lypla2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,198,466...148,203,062
Ensembl chr 5:148,198,439...148,203,092 		JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,341,124...151,367,403
Ensembl chr 5:151,339,176...151,367,485 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,601,780...151,608,533
Ensembl chr 5:151,601,780...151,608,287 		JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,652,812...150,661,863
Ensembl chr 5:150,652,812...150,661,863 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,318,752...151,329,948
Ensembl chr 5:151,318,754...151,338,719 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,135,826...151,162,207
Ensembl chr 5:151,140,059...151,163,560 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pithd1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,205,995...148,216,490
Ensembl chr 5:148,205,998...148,217,080 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Pla2g2c phospholipase A2, group IIC ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,959,365...150,981,388
Ensembl chr 5:150,959,182...150,981,377 		JBrowse link
G Pla2g2d phospholipase A2, group IID ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,016,010...151,022,531
Ensembl chr 5:151,018,870...151,022,525 		JBrowse link
G Pla2g2e phospholipase A2, group IIE ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,121,363...151,127,147
Ensembl chr 5:151,121,439...151,126,821 		JBrowse link
G Pla2g2f phospholipase A2, group IIF ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,986,788...150,993,175
Ensembl chr 5:150,986,788...150,993,175 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658 		JBrowse link
G Pnrc2 proline-rich nuclear receptor coactivator 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,103,966...148,106,950
Ensembl chr 5:148,095,699...148,107,242
Ensembl chr 5:148,095,699...148,107,242 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,210,492...151,211,716
Ensembl chr 5:151,210,492...151,211,716 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599 		JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,469,738...150,480,615
Ensembl chr 5:150,467,728...150,479,955 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,537,870...151,552,259
Ensembl chr 5:151,542,376...151,552,259 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768 		JBrowse link
G Stpg1 sperm-tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788 		JBrowse link
G Tcea3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,476,941...148,509,452
Ensembl chr 5:148,476,941...148,509,448 		JBrowse link
G Tex46 testis expressed 46 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,849,307...148,853,742
Ensembl chr 5:148,849,307...148,853,742 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,216,499...151,294,726
Ensembl chr 5:151,216,812...151,294,723 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,953,772...150,959,608
Ensembl chr 5:150,950,731...150,959,744 		JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719 		JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:150,792,959...150,864,849
Ensembl chr 5:150,797,322...150,852,518 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859 		JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:149,216,496...149,283,746
Ensembl chr 5:149,219,677...149,254,415 		JBrowse link
G Zfp46 zinc finger protein 46 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 5:148,519,398...148,529,903
Ensembl chr 5:148,520,855...148,529,459 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        inherited metabolic disorder 6610
          amino acid metabolic disorder 1591
            3-hydroxy-3-methylglutaryl-CoA lyase deficiency 74
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal recessive disease 6897
                3-hydroxy-3-methylglutaryl-CoA lyase deficiency 74
paths to the root