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
Accession: PW:0001417
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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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Abat
4-aminobutyrate aminotransferase
ISO
SMPDB
SMP:00175
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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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
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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
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Asl
argininosuccinate lyase
ISO
SMPDB
SMP:00175
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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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
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Aspa
aspartoacylase
ISO
SMPDB
SMP:00175
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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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
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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
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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
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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
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Ddo
D-aspartate oxidase
ISO
SMPDB
SMP:00175
NCBI chr20:44,090,823...44,109,962
Ensembl chr20:44,090,914...44,133,095
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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
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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
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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
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