Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease dominant intermediate C | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | early infantile epileptic encephalopathy | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | familial adenomatous polyposis 2 | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hepatoerythropoietic porphyria | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Hepatoerythropoietic porphyria | ClinVar | PMID:10980536 more ... | porphyria cutanea tarda | | ISO | RGD:1351123 | 8554872 | ClinVar more ... | ClinVar | PMID:11069625 more ... | Porphyria Cutanea Tarda, Type I | | ISO | RGD:1351123 | 8554872 | ClinVar Annotator: match by term: Porphyria cutanea tarda, type I | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Molecular Function
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Molecular Pathway Annotations
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Arsenite alters heme synthesis in long-term cultures of adult rat hepatocytes. | Aguilar-Gonzalez MG, etal., Toxicol Sci. 1999 Jun;49(2):281-9. |
| 2. | Biosynthesis of heme in mammals. | Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3. |
| 3. | Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. | Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16. |
| 4. | Rat-liver porphyrinogen carboxy-lyase inhibition as a function of the degree of hexachlorobenzene-induced porphyria. | Billi SC, etal., IARC Sci Publ. 1986;(77):487-91. |
| 5. | Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. | Elder GH, etal., N Engl J Med. 1978 Aug 10;299(6):274-8. |
| 6. | A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. | Garey JR, etal., Blood. 1989 Mar;73(4):892-5. |
| 7. | GenMAPP: Gene Map Annotator and Pathway Profiler | GenMAPP |
| 8. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 9. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 10. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 11. | MGD IEA | MGD IEA |
| 12. | Heme biosynthesis in human breast cancer--mimetic "in vitro" studies and some heme enzymic activity levels. | Navone NM, etal., Int J Biochem. 1990;22(12):1407-11. |
| 13. | Large-scale screen for genes controlling mammalian embryogenesis, using high-throughput gene expression analysis in mouse embryos. | Neidhardt L, etal., Mech Dev 2000 Nov;98(1-2):77-94. |
| 14. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 17. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 18. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 19. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 20. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 21. | The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage. | Rios de Molina MC, etal., Braz J Med Biol Res. 2002 Nov;35(11):1273-83. |
| 22. | Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase. | Romana M, etal., Nucleic Acids Res 1987 Sep 11;15(17):7211. |
| 23. | Distinction between octachlorostyrene and hexachlorobenzene in their potentials to induce ethoxyphenoxazone deethylase and cause porphyria in rats and mice. | Smith AG, etal., J Biochem Toxicol. 1986 Mar;1(1):105-17. |
| 24. | Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. | Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63. |
Additional References at PubMed
| PMID:1684952 | PMID:8661721 | PMID:10349636 | PMID:10501973 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11134514 | PMID:11835626 | PMID:12297827 | PMID:12477932 | PMID:14610273 |
| PMID:14681479 | PMID:15489334 | PMID:15782199 | PMID:15923635 | PMID:16141072 | PMID:16141073 | PMID:17360334 | PMID:19656451 | PMID:20099833 | PMID:20508144 | PMID:21267068 | PMID:21873635 |
| PMID:21880518 | PMID:26287972 | PMID:32325033 |
Genomics
Comparative Map Data
| Urod (Mus musculus - house mouse) |
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| UROD (Homo sapiens - human) |
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| Urod (Rattus norvegicus - Norway rat) |
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| Urod (Chinchilla lanigera - long-tailed chinchilla) |
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| UROD (Pan paniscus - bonobo/pygmy chimpanzee) |
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| UROD (Canis lupus familiaris - dog) |
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| Urod (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| UROD (Sus scrofa - pig) |
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| UROD (Chlorocebus sabaeus - green monkey) |
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| Urod (Heterocephalus glaber - naked mole-rat) |
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miRNA Target Status
Confirmed Target Of
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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QTLs in Region (GRCm39)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |