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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:Canavan disease pathway
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Accession:PW:0001417 term browser browse the term
Definition:A rare autosomal recessive condition characterized by degeneration of the nervous system due to white matter vacuolization and demeylination. It results from defects in ASPA, aspartoacylase gene involved in several amino acid metabolic pathways.
Synonyms:exact_synonym: Canavan-Van Bogaert-Bertrand disease pathway
 related_synonym: SMP:00175



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Canavan disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00175 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00175 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00175 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO SMPDB SMP:00175 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
JBrowse link
G Aspa aspartoacylase ISO SMPDB SMP:00175 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO SMPDB SMP:00175 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00175 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00175 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link
G Ddo D-aspartate oxidase ISO SMPDB SMP:00175 NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO SMPDB SMP:00175 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00175 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562
JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO SMPDB SMP:00175 NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nervous system disease pathway 761
        neurodegenerative pathway 366
          Canavan disease pathway 14
Path 2
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            inborn error of brain metabolic pathway 319
              Canavan disease pathway 14
paths to the root