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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


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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420 		JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO SMPDB SMP:00140 NCBI chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO SMPDB SMP:00140 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain ISO SMPDB SMP:00140 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain ISO SMPDB SMP:00140 NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376 		JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO SMPDB SMP:00140 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00140 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00140 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO SMPDB SMP:00140 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734 		JBrowse link
G AOX1 aldehyde oxidase 1 ISO SMPDB SMP:00140 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO SMPDB SMP:00140 NCBI chr 9:62,269,809...62,420,577 JBrowse link
G BCAT1 branched chain amino acid transaminase 1 ISO SMPDB SMP:00140 NCBI chr12:61,364,154...61,500,827
Ensembl chr12:63,978,116...64,107,463 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO SMPDB SMP:00140 NCBI chr19:38,391,618...38,418,826
Ensembl chr19:46,898,024...46,925,171 		JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO SMPDB SMP:00140 NCBI chr 6:78,005,287...78,246,287
Ensembl chr 6:81,276,836...81,516,787 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00140 NCBI chr 1:102,852,585...102,907,146
Ensembl chr 1:101,567,551...101,621,850 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00140 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00140 Ensembl chr10:134,278,388...134,289,308 JBrowse link
G HIBADH 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00140 NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO SMPDB SMP:00140 NCBI chr2B:77,510,938...77,652,911 JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO SMPDB SMP:00140 NCBI chr 1:22,993,489...23,017,307
Ensembl chr 1:23,977,723...24,001,150 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO SMPDB SMP:00140 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO SMPDB SMP:00140 NCBI chr  X:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO SMPDB SMP:00140 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO SMPDB SMP:00140 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO SMPDB SMP:00140 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO SMPDB SMP:00140 NCBI chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO SMPDB SMP:00140 NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO SMPDB SMP:00140 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO SMPDB SMP:00140 NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO SMPDB SMP:00140 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      nervous system disease pathway 445
        neurological disorder pathway 68
          3-methylglutaconic aciduria type 3 pathway 30
Path 2
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      nutritional and metabolic disease pathway 581
        metabolic disease pathway 542
          inborn error of metabolism pathway 525
            3-methylglutaconic aciduria type 3 pathway 30
paths to the root