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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:dopa responsive dystonia pathway
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Accession:PW:0002105 term browser browse the term
Definition:A condition resulting from alterations in the metabolism of tetrahydrobiopterin (BH4), an essential cofactor for the activity of many enzymes. Diet and supplements, such as administration of L-Dopa, may diminish the outcomes of the condition.
Synonyms:exact_synonym: dopa responsive dystonia disease pathway
 related_synonym: SMP:00486



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dopa responsive dystonia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00486 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Cbr1 carbonyl reductase 1 ISO SMPDB SMP:00486 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Dhfr dihydrofolate reductase ISO SMPDB SMP:00486 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO SMPDB SMP:00486 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO SMPDB SMP:00486 NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO SMPDB SMP:00486 NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO SMPDB SMP:00486 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
JBrowse link
G Spr sepiapterin reductase ISO SMPDB SMP:00486 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link

Term paths to the root
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  pathway 6092
    disease pathway 1954
      nervous system disease pathway 761
        movement disorder pathway 82
          dystonia pathway 8
            dopa responsive dystonia pathway 8
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