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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:A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Synonyms:exact_synonym: Hematoporphyria;   Porphyrin Disorder;   Porphyrin Disorders;   Porphyrinopathy;   disorder of porphyrin and hem metabolism;   disorder of porphyrin metabolism;   porphyrias
 related_synonym: HFE POLYMORPHISM
 primary_id: MESH:D011164;   RDO:0001887
 xref: GARD:10353;   ICD10CM:E80.20;   ICD9CM:277.1;   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 PMID:9222176, PMID:7547054 RGD:4145274 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177 		JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus,nephrosclerosis RGD PMID:17435269 RGD:2313839 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE POLYMORPHISM ClinVar PMID:10401000 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Urod uroporphyrinogen decarboxylase severity IEP RGD PMID:3596746 RGD:21081511 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar Annotator: match by term: Acute intermittent porphyria		 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860 		JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility		 ISO ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway
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)
ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar Annotator: match by OMIM:176000
CTD Direct Evidence: marker/mechanism
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)		 ClinVar
CTD
OMIM		 PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 PMID:1961762 PMID:2025226 PMID:2227955 PMID:2243128 PMID:2789372 PMID:2864531 PMID:6132132 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8262514 PMID:8262523 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8772850 PMID:9199558 PMID:9225970 PMID:9281416 PMID:10408772 PMID:10494093 PMID:10502788 PMID:11055586 PMID:11399210 PMID:11831862 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16211556 PMID:16817012 PMID:17298217 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19292878 PMID:19460837 PMID:19656453 PMID:19694018 PMID:20978940 PMID:23815679 PMID:24997713 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27849156 PMID:27884173 PMID:28492532 PMID:32581362, PMID:8563760, PMID:24997713, PMID:30385147, PMID:8270256, PMID:30615115, PMID:26071363, PMID:10453740, PMID:9455613, PMID:30297912, PMID:15469427, PMID:14757946, PMID:19138865, PMID:19656452, PMID:28990424, PMID:19656453, PMID:9523350, PMID:10667475, PMID:25870942, PMID:19664584, PMID:9860299 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 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244 		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 null
ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant		 ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748 		JBrowse link
acute porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISS OMIM:612740 MouseDO NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Porphyria, hepatic ClinVar PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		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 ISO ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency
ClinVar Annotator: match by OMIM:612740		 OMIM
ClinVar		 PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:10519994 PMID:15303011 PMID:16398658 PMID:17236137 PMID:24033266 PMID:28492532 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
Coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Coproporphyria
protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Coproporphyria, digenic		 ClinVar PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 PMID:11309681 PMID:12181641 PMID:12227458 PMID:16398658 PMID:27959697 PMID:28492532, PMID:2079105 RGD:19165350 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		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:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		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 chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192 		JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Congenital erythropoietic porphyria
DNA:missense mutations,SNP,deletion:cds,introns:multiple
ClinVar Annotator: match by OMIM:263700		 ClinVar
OMIM		 PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 PMID:8829650 PMID:8946173 PMID:9803266 PMID:9834209 PMID:11254675 PMID:12060141 PMID:19099412 PMID:19965637 PMID:21343304 PMID:21365124 PMID:21631301 PMID:22816431 PMID:25741868 PMID:28492532, PMID:2331520, PMID:30454868 RGD:1599715, RGD:18937001 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167 		JBrowse link
erythropoietic protoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179 		JBrowse link
G Btc betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484 		JBrowse link
G Ereg epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394 		JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:exons:
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:introns:IVS-48C,IVS1-23T(human) 		CTD PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 PMID:29906468, PMID:19787086, PMID:10942404, PMID:26280465, PMID:26789144 RGD:14700889, RGD:14700886, RGD:14700883, RGD:11556165 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192 		JBrowse link
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 PMID:7910885 PMID:8481408 PMID:8500787 PMID:9649563 PMID:11753383 PMID:12063482 PMID:14669009 PMID:15286165 PMID:16385445 PMID:16844398 PMID:17875872 PMID:18787536 PMID:19298273 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28492532 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192 		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: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 ClinVar
OMIM		 PMID:25741868 PMID:28874591 NCBI chr 8:70,789,137...70,843,133
Ensembl chr 8:70,789,256...70,843,123 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:11753383 PMID:14669009 PMID:16385445 PMID:17875872 PMID:20105171 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192 		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 OMIM:300752		 OMIM
ClinVar		 PMID:18760763 PMID:23263862, PMID:18760763, PMID:23263862 RGD:18337287, RGD:18337286 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
Harderoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Harderoporphyria
protein:altered activity:blood, lymphocyte (human)		 ClinVar
OMIM		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 PMID:16159891 PMID:21103937, PMID:6886003 RGD:25671431 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		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 PMID:1905639 PMID:3684400, PMID:6721832 RGD:4144806 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346 		JBrowse link
G Cpox coproporphyrinogen oxidase IEP protein:decreased activity:liver, mitochondrial inner membrane (rat) RGD PMID:19482825 RGD:4144824 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		JBrowse link
G Fech ferrochelatase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192 		JBrowse link
G Hmbs hydroxymethylbilane synthase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748 		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 chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP		 protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Porphyria, hepatic
protein:decreased activity:liver (rat)		 ClinVar PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314, PMID:3271868, PMID:6721832 RGD:4145290, RGD:4144806 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		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: Porphyria, Hepatoerythropoietic
ClinVar Annotator: match by term: Hepatoerythropoietic porphyria		 ClinVar PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:23545314 PMID:25741868 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		JBrowse link
hereditary coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Hereditary coproporphyria
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:mutations:multiple
DNA:missense mutations, deletion, frameshift mutation:multiple
ClinVar Annotator: match by OMIM:121300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11309681 PMID:11831056 PMID:12181641 PMID:27959697 PMID:28492532, PMID:12181641, PMID:15896662, PMID:9888388, PMID:30385147 RGD:25671430, RGD:25671429, RGD:25671428, RGD:21079461 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		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 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11831056 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:14714565 RGD:11576310 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11153915, PMID:20957336 RGD:11576316 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:20957336 RGD:11576316 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		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
OMIM		 PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12622622 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:20301613 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083, PMID:11134514, PMID:27661980, PMID:17137171, PMID:19001803 RGD:7207253, RGD:14701050, RGD:8694367, RGD:8694347 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP		 DNA:missense mutation:cds:p.G281V (human)
ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
ClinVar Annotator: match by term: Porphyria cutanea tarda
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176100
ClinVar Annotator: match by null
protein:decreased activity:liver (human)
protein:decreased activity:liver (rat)		 ClinVar
CTD
OMIM		 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:8896428 PMID:9792863 PMID:11719352 PMID:12030801 PMID:17360334 PMID:19233912 PMID:19419417 PMID:19656450 PMID:23545314 PMID:24777812 PMID:25741868 PMID:28492532, PMID:2920211, PMID:661926, PMID:12426626 RGD:1599713, RGD:4145077, RGD:4144182 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		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 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643 		JBrowse link
variegate porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: PPOX deficiency OMIM
ClinVar		 PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:20301613 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Variegate porphyria
ClinVar Annotator: match by term: Variegate porphyria, homozygous		 ClinVar
OMIM		 PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 PMID:8852667 PMID:9738863 PMID:9811936 PMID:9829909 PMID:10401000 PMID:10486317 PMID:11173967 PMID:11286631 PMID:11298551 PMID:11348478 PMID:11929051 PMID:12380696 PMID:12655566 PMID:12922165 PMID:16433813 PMID:18570668 PMID:21048046 PMID:23409300 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28653968 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        porphyria 21
          Hepatic Porphyrias + 18
          Yusho Disease 0
          acute porphyria + 18
          cutaneous porphyria 3
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            porphyria 21
              Hepatic Porphyrias + 18
              Yusho Disease 0
              acute porphyria + 18
              cutaneous porphyria 3
paths to the root