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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:porphyria pathway
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Accession:PW:0001784 term browser browse the term
Definition:A group of metabolic conditions due to alterations in the heme biosynthetic pathway in bone marrow, the liver or both. They are further classified depending on the enzymes that are deficient or the site.
Synonyms:exact_synonym: porphyria disease pathway


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acute intermittent porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00344 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00344 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00344 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00344 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00344 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00344 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00344 NCBI chr18:47,294,292...47,295,541
Ensembl chr18:47,294,292...47,295,541
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00344 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00344 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00344 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00344 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00344 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00344 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link
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 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00345 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00345 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00345 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00345 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00345 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00345 NCBI chr18:47,294,292...47,295,541
Ensembl chr18:47,294,292...47,295,541
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00345 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00345 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00345 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00345 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00345 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00345 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link
hereditary coproporphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00342 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00342 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00342 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00342 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00342 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00342 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00342 NCBI chr18:47,294,292...47,295,541
Ensembl chr18:47,294,292...47,295,541
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00342 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00342 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00342 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00342 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00342 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link
variegate porphyria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO SMPDB SMP:00346 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00346 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Blvra biliverdin reductase A ISO SMPDB SMP:00346 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO SMPDB SMP:00346 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO SMPDB SMP:00346 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cpox coproporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Fech ferrochelatase ISO SMPDB SMP:00346 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Ftmt ferritin mitochondrial ISO SMPDB SMP:00346 NCBI chr18:47,294,292...47,295,541
Ensembl chr18:47,294,292...47,295,541
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00346 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO SMPDB SMP:00346 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 ISO SMPDB SMP:00346 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ppox protoporphyrinogen oxidase ISO SMPDB SMP:00346 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO SMPDB SMP:00346 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Uros uroporphyrinogen III synthase ISO SMPDB SMP:00346 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            porphyria pathway 14
              erythropoietic porphyria pathway 14
              hepatic porphyria pathway + 14
paths to the root