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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 aminolevulinic acid synthase 1 ISO protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9222176 PMID:7547054 RGD:4145274 NCBI chr 9:106,110,654...106,125,153
Ensembl chr 9:106,110,654...106,125,853
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus,nephrosclerosis RGD PMID:17435269 RGD:2313839 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE POLYMORPHISM ClinVar PMID:10401000 PMID:23657305 PMID:25504993 PMID:25741868 PMID:26547814 More... NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Urod uroporphyrinogen decarboxylase severity ISO protein:decreased activity:liver (rat) RGD PMID:6721832 PMID:3596746 RGD:4144806, RGD:21081511 NCBI chr 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610
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, sub-family B member 6 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:25741868 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334
JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634
JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:28492532 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197
JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility
IMP
ISO
IAGP
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: Porphyria, Swedish type
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)
OMIM:176000
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:1577472 PMID:1714233 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 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
JBrowse link
G Ppox protoporphyrinogen oxidase IAGP DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr 1:171,104,564...171,108,955
Ensembl chr 1:171,103,563...171,108,760
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 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
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, sub-family B member 6 ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:22958180 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
JBrowse link
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase susceptibility ISO ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800
JBrowse link
cutaneous porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid severity ISO DNA:mutation:exon: c.1757 A > T, p.Y586F (human) RGD PMID:21653323 RGD:11035240 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634
JBrowse link
G Fech ferrochelatase ISO protein:decreased activity:skin fibroblast, liver (human)
DNA:transitions, frameshift mutations:exon:multiple (human)
RGD PMID:1184741 PMID:8601739 RGD:4145285, RGD:1598932 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital erythropoietic porphyria ClinVar PMID:12200364 PMID:17148589 PMID:20301538 PMID:25741868 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310
JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital erythropoietic porphyria | ClinVar Annotator: match by term: Cutaneous porphyria
DNA:missense mutations,SNP,deletion:cds,introns:multiple
OMIM:263700
CTD
ClinVar
MouseDO
OMIM
RGD
PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 More... RGD:1599715, RGD:18937001 NCBI chr 7:133,287,871...133,312,176
Ensembl chr 7:133,287,972...133,311,801
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, sub-family B member 6 ISO ClinVar Annotator: match by term: Ferrochelatase deficiency ClinVar PMID:22958180 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) IAGP OMIM:177000 | OMIM:300752 MouseDO NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
JBrowse link
G Btc betacellulin, epidermal growth factor family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853
JBrowse link
G Ereg epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
JBrowse link
G Fech ferrochelatase IAGP
IEP
ISO
OMIM:177000 | OMIM:300752
DNA:mutations:exons:
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:introns:IVS-48C,IVS1-23T(human)
CTD Direct Evidence: marker/mechanism|therapeutic
MouseDO
CTD
RGD
PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 More... RGD:14700889, RGD:14700886, RGD:14700883, RGD:11556165 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
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, sub-family B member 6 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
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 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28874591 NCBI chr 9:65,201,533...65,237,940
Ensembl chr 9:65,201,542...65,237,940
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 chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
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 aminolevulinic acid synthase 2, erythroid disease_progression ISO DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
OMIM
CTD
ClinVar
RGD
PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337286, RGD:18337287 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634
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 chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
Hepatic Porphyrias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase ISO protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1905639 PMID:3684400 PMID:6721832 RGD:4144806 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
JBrowse link
G Cpox coproporphyrinogen oxidase ISO
IEP
protein:decreased activity:liver, mitochondrial inner membrane (rat)
protein:decreased activity:liver (mouse)
RGD PMID:19482825 PMID:2079105 RGD:4144824, RGD:19165350 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
G Fech ferrochelatase ISO protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
JBrowse link
G Ppox protoporphyrinogen oxidase ISO
IEP
DNA:mutations:cds:multiple (human)
DNA:missense mutation:cds:p.G232R (human)
protein:decreased activity:liver, kidney (mouse)
DNA:transition:cds:p.R59W (human)
RGD PMID:10486317 PMID:8852667 PMID:9431441 PMID:9254745 RGD:1599176, RGD:1599172, RGD:4145281, RGD:1599174 NCBI chr 1:171,104,564...171,108,955
Ensembl chr 1:171,103,563...171,108,760
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP
protein:decreased activity:liver (rat)
protein:decreased activity:liver (mouse)
RGD PMID:6721832 PMID:3271868 RGD:4144806, RGD:4145290 NCBI chr 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610
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 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610
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, sub-family B member 6 ISO ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria ClinVar PMID:22958180 PMID:25741868 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Cpox coproporphyrinogen oxidase ISO
IAGP
ClinVar Annotator: match by term: CPOX-related condition | 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
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:mutations:multiple
DNA:missense mutations, deletion, frameshift mutation:multiple
OMIM:121300
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 chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
porphyria cutanea tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase treatment ISO protein:decreased activity:blood, erythrocyte RGD PMID:526041 PMID:8100994 RGD:12904671, RGD:12904682 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
JBrowse link
G Cpox coproporphyrinogen oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11831056 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:14714565 RGD:11576310 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:20957336 RGD:11576316 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Hfe homeostatic iron regulator no_association
susceptibility
IMP
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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO 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: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
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 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610
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 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610
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, sub-family B member 6 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G B4galt3 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:25741868 NCBI chr 1:171,097,898...171,104,468
Ensembl chr 1:171,097,898...171,104,469
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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Ppox protoporphyrinogen oxidase ISO
IAGP
ClinVar Annotator: match by term: Variegate porphyria
CTD Direct Evidence: marker/mechanism
OMIM:176200
OMIM
ClinVar
CTD
MouseDO
PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr 1:171,104,564...171,108,955
Ensembl chr 1:171,103,563...171,108,760
JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:25741868 NCBI chr 1:171,109,523...171,115,534
Ensembl chr 1:171,109,519...171,115,564
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 chr 1:171,104,564...171,108,955
Ensembl chr 1:171,103,563...171,108,760
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    Nutritional and Metabolic Diseases 7385
      disease of metabolism 7385
        porphyria 26
          Hepatic Porphyrias + 22
          Yusho Disease 0
          acute porphyria + 22
          cutaneous porphyria 4
Path 2
Term Annotations click to browse term
  disease 18296
    Developmental Disease 17904
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17775
        genetic disease 17749
          inherited metabolic disorder 5659
            porphyria 26
              Hepatic Porphyrias + 22
              Yusho Disease 0
              acute porphyria + 22
              cutaneous porphyria 4
paths to the root