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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:2-hydroxyglutaric aciduria pathway
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Accession:PW:0002205 term browser browse the term
Definition:An autosomal recessive neurometabolic disorder with several phenotypes and due to mutations in the L2HGDH gene (the L-type), D2HGDH and IDH2 genes (the D-type). A combined L- and D-type has also been observed and has been attributed to mutations in the SLC25A1 gene.
Synonyms:exact_synonym: 2-hydroxyglutaricaciduria disease pathway;   2-hydroxyglutaricaciduria pathway
 related_synonym: SMP:00136


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2-hydroxyglutaric aciduria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00136 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00136 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO SMPDB SMP:00136 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00136 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00136 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00136 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00136 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO SMPDB SMP:00136 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO SMPDB SMP:00136 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00136 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00136 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00136 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO SMPDB SMP:00136 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00136 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00136 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00136 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00136 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gsr glutathione-disulfide reductase ISO SMPDB SMP:00136 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gss glutathione synthetase ISO SMPDB SMP:00136 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO SMPDB SMP:00136 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00136 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00136 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO SMPDB SMP:00136 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            2-hydroxyglutaric aciduria pathway 23
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              2-hydroxyglutaric aciduria pathway 23
paths to the root