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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway
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Accession:PW:0002323 term browser browse the term
Definition:A rare autosomal condition resulting from alterations in several metabolic pathways and due to defects in the HMGCL gene.
Synonyms:related_synonym: SMP:00138



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3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00138 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00138 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00138 NCBI chr 8:33,641,420...33,665,542
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00138 NCBI chr 2:245,518,693...245,542,864
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00138 NCBI chr12:47,154,259...47,163,580
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00138 NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00138 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00138 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00138 NCBI chr 6:109,809,092...109,829,725
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00138 NCBI chr 9:67,073,831...67,152,980
Ensembl chr 9:59,579,649...59,658,770
JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00138 NCBI chr17:12,481,396...12,576,748
Ensembl chr17:12,329,524...12,424,896
JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00138 NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00138 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00138 NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:84,845,264...85,027,812
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00138 NCBI chr 2:204,481,744...204,510,612
Ensembl chr 2:204,481,737...204,510,609
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00138 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00138 NCBI chr 1:204,324,679...204,333,506
Ensembl chr 1:194,895,036...194,903,884
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00138 NCBI chr 4:82,979,759...83,077,819
Ensembl chr 4:81,649,175...81,780,617
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00138 NCBI chr 9:56,082,082...56,161,796
Ensembl chr 9:48,590,099...48,669,824
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00138 NCBI chr 5:153,461,738...153,475,552
Ensembl chr 5:148,178,252...148,192,068
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00138 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00138 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00138 NCBI chr 3:126,305,584...126,326,016
Ensembl chr 3:105,851,683...105,872,575
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00138 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00138 NCBI chr 2:33,039,044...33,110,092
Ensembl chr 2:31,304,932...31,375,972
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00138 NCBI chr 1:127,376,311...127,399,551
Ensembl chr 1:117,964,576...117,988,484
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00138 NCBI chr 9:27,425,935...27,454,202
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00138 NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:53,236,368...53,384,714
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00138 NCBI chr15:106,034,586...106,374,908
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00138 NCBI chr 8:110,470,197...110,520,222
Ensembl chr 8:101,590,737...101,641,234
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  pathway 6092
    disease pathway 1955
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of amino acid metabolism pathway 229
              3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway 30
paths to the root