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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 (http://rgd.mcw.edu/contact/index.shtml).
Term:erythropoietic porphyria pathway
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Accession:PW:0002216 term browser browse the term
Definition:An autosomal recessive condition due to defects in the uroporphyrinogen III synthase gene.
Synonyms:exact_synonym: erythropoietic porphyria disease pathway
 related_synonym: Gunther disease pathway;   SMP:00345


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erythropoietic porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00345 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00345 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00345 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00345 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00345 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00345 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00345 NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123 		JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00345 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00345 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00345 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00345 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808 		JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00345 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            porphyria pathway 14
              erythropoietic porphyria pathway 14
paths to the root