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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:porphyria
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Accession:DOID:13268 term browser browse the term
Definition:An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (DO)
Synonyms:exact_synonym: Porphyrin Disorder;   Porphyrin Disorders;   disorder of porphyrin and hem metabolism;   disorder of porphyrin metabolism;   hematoporphyria;   porphyrias;   porphyrinopathy
 related_synonym: HFE POLYMORPHISM
 primary_id: MESH:D011164
 xref: EFO:0000665;   GARD:10353;   ICD10CM:E80.20;   ICD9CM:277.1;   MONDO:0037939;   NCI:C97096
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas1 5'-aminolevulinate synthase 1 IEP
ISO 		protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:9222176 PMID:7547054 RGD:4145274 NCBI chr 8:115,755,238...115,768,642
Ensembl chr 8:115,755,238...115,768,642 		JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus,nephrosclerosis RGD PMID:17435269 RGD:2313839 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Urod uroporphyrinogen decarboxylase severity IEP RGD PMID:3596746 RGD:21081511 NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:135,701,296...135,705,380 		JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: PBGD DEFICIENCY ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:25741868 NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:25741868 PMID:28492532 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:55,405,784...55,415,761 		JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility 		ISO
ISS 		ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency | ClinVar Annotator: match by term: PBGD DEFICIENCY
OMIM:176000
DNA:mutations:multiple
DNA:mutations:multiple
DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:missense mutation:exon 10: p.R173W (173C>T) (human)
human mRNA in a mouse model
DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)
DNA:SNPs, deletion, haplotype:multiple
DNA:missense mutation:cds: p.V215M (human)
human gene in a mouse model
DNA:SNPs, haplotype:multiple
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
DNA:transversion:intron:IVS11-3C>G (human)
DNA:missense mutation:cd: p.A330P (human)
CTD Direct Evidence: marker/mechanism
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301948 PMID:1427766 PMID:1496994 PMID:1500382 PMID:1577472 More... RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse)
ClinVar Annotator: match by term: Acute intermittent porphyria 		ClinVar
RGD		 PMID:28492532 PMID:11929050 RGD:4145363 NCBI chr13:86,230,111...86,235,028
Ensembl chr13:86,230,111...86,234,246 		JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:7757070 PMID:7962538 More... NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
acute porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:1301948 PMID:1747120 PMID:2864531 PMID:7635464 PMID:7757070 More... NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALAD-related condition | ClinVar Annotator: match by term: PORPHYRIA, ACUTE HEPATIC, DIGENIC | ClinVar Annotator: match by term: Porphobilinogen synthase deficiency 		CTD
ClinVar
OMIM		 PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
cutaneous porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:exon: c.1757 A > T, p.Y586F (human) RGD PMID:21653323 RGD:11035240 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Fech ferrochelatase ISO DNA:transitions, frameshift mutations:exon:multiple (human)
protein:decreased activity:skin fibroblast, liver (human) 		RGD PMID:8601739 PMID:1184741 RGD:1598932, RGD:4145285 NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: UROS DEFICIENCY ClinVar PMID:12200364 PMID:17148589 PMID:20301538 PMID:23704091 PMID:25251786 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
ISS
IAGP 		ClinVar Annotator: match by term: Cutaneous porphyria | ClinVar Annotator: match by term: UROS DEFICIENCY | ClinVar Annotator: match by term: UROS-related condition
OMIM:263700
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,SNP,deletion:cds,introns:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 More... RGD:1599715, RGD:18937001 NCBI chr 1:197,920,827...197,943,183
Ensembl chr 1:197,921,701...197,936,150 		JBrowse link
ENCEPHALOPATHY, PORPHYRIA-RELATED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Encephalopathy, porphyria-related OMIM
ClinVar		 PMID:1301948 PMID:1496994 PMID:1577472 PMID:2243128 PMID:2246851 More... NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
erythropoietic protoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Ferrochelatase deficiency | ClinVar Annotator: match by term: Heme synthetase deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:89,005,969...89,132,493 		JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:17,256,384...17,265,641
Ensembl chr14:17,256,384...17,265,641 		JBrowse link
G Btc betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:16,992,668...17,031,178
Ensembl chr14:16,992,193...17,033,078 		JBrowse link
G Ereg epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:17,311,485...17,325,260
Ensembl chr14:17,311,485...17,325,260 		JBrowse link
G Fech ferrochelatase ISO
ISS 		CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Ferrochelatase deficiency
OMIM:177000 | OMIM:300752
DNA:mutations:exons:
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:introns:IVS-48C,IVS1-23T(human) 		CTD
ClinVar
MouseDO
RGD		 PMID:9649563 PMID:10464147 PMID:10942404 PMID:12950064 PMID:15284838 More... RGD:14700889, RGD:14700886, RGD:14700883, RGD:11556165 NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: FECH-related condition | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: CLPX-related condition | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28874591 NCBI chr 8:74,700,602...74,740,244
Ensembl chr 8:74,700,662...74,744,762 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 disease_progression ISO DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant 		OMIM
ClinVar
RGD		 PMID:16446107 PMID:18760763 PMID:21653323 PMID:22778251 PMID:23263862 More... RGD:18337286, RGD:18337287 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
Harderoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO protein:altered activity:blood, lymphocyte (human)
ClinVar Annotator: match by term: Harderoporphyria 		ClinVar
OMIM
RGD		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... RGD:25671431 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:55,405,784...55,415,761 		JBrowse link
Hepatic Porphyrias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase IEP
ISO 		protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:1905639 PMID:3684400 PMID:6721832 RGD:4144806 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Cpox coproporphyrinogen oxidase IEP
ISO 		protein:decreased activity:liver, mitochondrial inner membrane (rat)
protein:decreased activity:liver (mouse) 		RGD PMID:19482825 PMID:2079105 RGD:4144824, RGD:19165350 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:55,405,784...55,415,761 		JBrowse link
G Fech ferrochelatase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
G Hmbs hydroxymethylbilane synthase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:transition:cds:p.R59W (human)
DNA:missense mutation:cds:p.G232R (human)
protein:decreased activity:liver, kidney (mouse)
DNA:mutations:cds:multiple (human) 		RGD PMID:9254745 PMID:8852667 PMID:9431441 PMID:10486317 RGD:1599174, RGD:1599172, RGD:4145281, RGD:1599176 NCBI chr13:86,230,111...86,235,028
Ensembl chr13:86,230,111...86,234,246 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP 		protein:decreased activity:liver (mouse)
protein:decreased activity:liver (rat) 		RGD PMID:3271868 PMID:6721832 RGD:4145290, RGD:4144806 NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:135,701,296...135,705,380 		JBrowse link
hepatoerythropoietic porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Hepatoerythropoietic porphyria ClinVar PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 More... NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:135,701,296...135,705,380 		JBrowse link
hereditary coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: CPX deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria ClinVar PMID:22958180 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO
ISS 		ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic | ClinVar Annotator: match by term: Hereditary coproporphyria
OMIM:121300
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:mutations:multiple
DNA:missense mutations, deletion, frameshift mutation:multiple
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8159699 PMID:8286403 More... RGD:25671430, RGD:25671429, RGD:25671428, RGD:21079461 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:55,405,784...55,415,761 		JBrowse link
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Leukoencephalopathy, porphyria-related OMIM
ClinVar		 PMID:1577472 PMID:2243128 PMID:2246851 PMID:2246852 PMID:6985467 More... NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
porphyria cutanea tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase treatment ISO protein:decreased activity:blood, erythrocyte RGD PMID:526041 PMID:8100994 RGD:12904671, RGD:12904682 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11831056 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:55,405,784...55,415,761 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:14714565 RGD:11576310 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11153915 PMID:20957336 RGD:11576316 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:20957336 RGD:11576316 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hfe homeostatic iron regulator no_association
susceptibility 		ISO ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.H63D, p.C282Y (human)
DNA:missense mutations:cds:p.C282Y, p.H63D (human) 		ClinVar
CTD
RGD		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207253, RGD:14701050, RGD:8694367, RGD:8694347 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP 		DNA:missense mutation:cds:p.G281V (human)
ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROD-related disorder | ClinVar Annotator: match by term: UROD-related inherited porphyria
CTD Direct Evidence: marker/mechanism
protein:decreased activity:liver (human)
protein:decreased activity:liver (rat) 		ClinVar
CTD
OMIM
RGD		 PMID:1634232 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 More... RGD:1599713, RGD:4145077, RGD:4144182 NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:135,701,296...135,705,380 		JBrowse link
Porphyria Cutanea Tarda, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Porphyria cutanea tarda, type I ClinVar PMID:8644733 PMID:25741868 PMID:28492532 NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:135,701,296...135,705,380 		JBrowse link
variegate porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO
ISS 		ClinVar Annotator: match by term: PPOX-related condition | ClinVar Annotator: match by term: Variegate porphyria
OMIM:176200
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr13:86,230,111...86,235,028
Ensembl chr13:86,230,111...86,234,246 		JBrowse link
Variegate Porphyria, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Variegate porphyria, childhood-onset OMIM
ClinVar		 PMID:2317449 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr13:86,230,111...86,235,028
Ensembl chr13:86,230,111...86,234,246 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        porphyria 23
          ENCEPHALOPATHY, PORPHYRIA-RELATED 1
          Hepatic Porphyrias + 19
          LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED 1
          Yusho Disease 0
          acute porphyria + 19
          cutaneous porphyria 4
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            porphyria 23
              ENCEPHALOPATHY, PORPHYRIA-RELATED 1
              Hepatic Porphyrias + 19
              LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED 1
              Yusho Disease 0
              acute porphyria + 19
              cutaneous porphyria 4
paths to the root