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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:3-methylglutaconic aciduria type 3 pathway
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Accession:PW:0002275 term browser browse the term
Definition:A syndrome consisting of early-onset bilateral optic atrophy associated with later-onset spasticity and cognitive deficit.
Synonyms:exact_synonym: 3-methylglutaconic aciduria type III pathway;   Costeff optic atrophy syndrome pathway;   Costeff syndrome pathway;   Iraqi-Jewish optic atrophy plus pathway;   MGA3 pathway;   autosomal recessive optic atrophy plus syndrome pathway;   autosomal recessive optic atrophy type 3 pathway;   infantile optic atrophy with chorea and spastic paraplegia pathway;   type III 3-Methylglutaconic aciduria disease pathway;   type III 3-Methylglutaconic aciduria pathway
 related_synonym: Costeff syndrome disease pathway;   SMP:00140


show annotations for term's descendants           Sort by:
3-methylglutaconic aciduria type 3 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00140 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:70,620,110...70,648,420 		JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO SMPDB SMP:00140 NCBI chr 8:33,641,420...33,665,542
Ensembl chr 8:33,641,420...33,665,542 		JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 2:245,518,693...245,542,864
Ensembl chr 2:245,518,693...245,542,864 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr12:47,154,259...47,163,580
Ensembl chr12:47,154,276...47,164,103 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO SMPDB SMP:00140 NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:195,619,038...195,660,561 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:62,876,003...62,905,042 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:40,610,224...40,643,219 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO SMPDB SMP:00140 NCBI chr 6:109,809,092...109,829,725
Ensembl chr 6:109,809,122...109,829,743 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr 9:67,073,831...67,152,980
Ensembl chr 9:67,073,821...67,152,980 		JBrowse link
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr17:12,481,396...12,576,748
Ensembl chr17:12,481,416...12,602,587 		JBrowse link
G Bcat1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr 4:179,695,662...179,777,973
Ensembl chr 4:179,695,662...179,777,288 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 NCBI chr 1:204,324,679...204,333,506
Ensembl chr 1:204,324,682...204,333,506 		JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 4:82,979,759...83,077,819
Ensembl chr 4:82,979,765...83,111,242 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr 9:56,082,082...56,161,796
Ensembl chr 9:56,082,091...56,161,886 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 5:153,461,738...153,475,552
Ensembl chr 5:153,461,769...153,475,604 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:188,547,767...188,592,242 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:24,568,551...24,574,681 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr 3:126,305,584...126,326,016
Ensembl chr 3:126,305,364...126,328,160 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chr 2:120,727,313...120,779,334
Ensembl chr 2:120,727,316...120,779,554 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chr 2:33,039,044...33,110,092
Ensembl chr 2:33,039,045...33,110,299 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00140 NCBI chr 1:127,376,311...127,399,551
Ensembl chr 1:127,376,298...127,400,367 		JBrowse link
G Mmut methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 9:27,425,935...27,454,202
Ensembl chr 9:27,425,935...27,454,342 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00140 NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:54,963,784...55,112,298 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr 8:110,470,197...110,520,222
Ensembl chr 8:110,469,934...110,520,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nervous system disease pathway 761
        neurological disorder pathway 69
          3-methylglutaconic aciduria type 3 pathway 30
Path 2
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            3-methylglutaconic aciduria type 3 pathway 30
paths to the root