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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:saccharopinuria pathway
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Accession:PW:0001703 term browser browse the term
Definition:Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive condition due to alteration in metabolic pathways of lysine and its derivatives.
Synonyms:exact_synonym: alpha-aminoadipic semialdehyde synthase deficiency pathway;   hyperlysinemia type II pathway;   saccharopine dehydrogenase deficiency pathway;   saccharopinuria disease pathway
 related_synonym: SMP:00239;   SMP:00528;   hyperlysinemia type II disease pathway


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saccharopinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadat aminoadipate aminotransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:34,520,236...34,566,388
Ensembl chr16:34,520,238...34,566,540 		JBrowse link
G Aass aminoadipate-semialdehyde synthase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 4:52,572,146...52,628,811
Ensembl chr 4:52,572,147...52,657,600 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:62,876,003...62,905,042 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr17:77,242,512...77,316,074
Ensembl chr17:77,264,514...77,316,071 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 6:110,489,576...110,512,841
Ensembl chr 6:110,489,392...110,514,357 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO SMPDB SMP:00239 SMP:00528 NCBI chr 1:204,324,679...204,333,506
Ensembl chr 1:204,324,682...204,333,506 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO SMPDB SMP:00239 SMP:00528 NCBI chr 2:222,462,049...222,504,446
Ensembl chr 2:222,462,049...222,504,446 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO SMPDB SMP:00239 SMP:00528 NCBI chr10:63,267,946...63,281,556
Ensembl chr10:63,267,972...63,282,273 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr18:29,704,182...29,707,563
Ensembl chr18:29,703,871...29,708,827 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO SMPDB SMP:00239 SMP:00528 NCBI chr16:58,115,991...58,174,256
Ensembl chr16:58,120,968...58,174,256 		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
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            hyperlysinemia pathway 13
              saccharopinuria pathway 13
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
            inborn error of amino acid metabolism pathway 229
              hyperlysinemia pathway 13
                saccharopinuria pathway 13
paths to the root