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Pathways
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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-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


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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 EXP SMPDB SMP:00140 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP SMPDB SMP:00140 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 EXP SMPDB SMP:00140 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain EXP SMPDB SMP:00140 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP SMPDB SMP:00140 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain EXP SMPDB SMP:00140 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 EXP SMPDB SMP:00140 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP SMPDB SMP:00140 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 EXP SMPDB SMP:00140 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G AOX1 aldehyde oxidase 1 EXP SMPDB SMP:00140 NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase EXP SMPDB SMP:00140 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G BCAT1 branched chain amino acid transaminase 1 EXP SMPDB SMP:00140 NCBI chr12:24,810,024...24,949,340
Ensembl chr12:24,810,024...24,949,101 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha EXP SMPDB SMP:00140 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta EXP SMPDB SMP:00140 NCBI chr 6:80,106,610...80,466,676
Ensembl chr 6:80,106,647...80,346,270 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 EXP SMPDB SMP:00140 NCBI chr 1:100,186,919...100,249,834
Ensembl chr 1:100,186,919...100,249,834 		JBrowse link
G DLD dihydrolipoamide dehydrogenase EXP SMPDB SMP:00140 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 EXP SMPDB SMP:00140 NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354 		JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase EXP SMPDB SMP:00140 NCBI chr 7:27,525,442...27,662,883
Ensembl chr 7:27,525,442...27,662,883 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP SMPDB SMP:00140 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase EXP SMPDB SMP:00140 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 EXP SMPDB SMP:00140 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 EXP SMPDB SMP:00140 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase EXP SMPDB SMP:00140 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 EXP SMPDB SMP:00140 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 EXP SMPDB SMP:00140 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706 		JBrowse link
G MCEE methylmalonyl-CoA epimerase EXP SMPDB SMP:00140 NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		JBrowse link
G MMUT methylmalonyl-CoA mutase EXP SMPDB SMP:00140 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP SMPDB SMP:00140 NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha EXP SMPDB SMP:00140 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta EXP SMPDB SMP:00140 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      nervous system disease pathway 768
        neurological disorder pathway 69
          3-methylglutaconic aciduria type 3 pathway 30
Path 2
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      nutritional and metabolic disease pathway 694
        metabolic disease pathway 650
          inborn error of metabolism pathway 536
            3-methylglutaconic aciduria type 3 pathway 30
paths to the root