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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:carnosinemia pathway
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Accession:PW:0002565 term browser browse the term
Definition:An inherited condition resulting from alterations in carnosine metabolism due to defects in the enzyme carnosinase and manifested in neurological disorders.
Synonyms:exact_synonym: aminoacyl-histidine dipeptidase deficiency pathway;   carnosinase deficiency pathway;   carnosinemia disease pathway
 related_synonym: SMP:00493


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carnosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00493 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00493 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:00493 NCBI chr 6:109,809,092...109,829,725
Ensembl chr 6:109,809,122...109,829,743 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO SMPDB SMP:00493 NCBI chr10:86,773,018...86,780,961 JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO SMPDB SMP:00493 NCBI chr18:80,254,499...80,305,845
Ensembl chr18:80,255,784...80,282,643 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00493 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:209,293,929...210,159,778 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00493 NCBI chr 7:72,707,566...72,814,183
Ensembl chr 7:72,721,048...72,814,142 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00493 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00493 NCBI chr20:13,216,693...13,243,016
Ensembl chr20:13,216,691...13,277,562 		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
            carnosinemia pathway 9
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
              carnosinemia pathway 9
paths to the root