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
Accession: DOID:13268
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 .
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 8:106,876,514...106,889,852
Ensembl chr 8:106,876,514...106,889,917
G
Epo
erythropoietin
ISO
associated with Diabetes Mellitus,nephrosclerosis
RGD
PMID:17435269
RGD:2313839
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: HFE POLYMORPHISM
ClinVar
PMID:10401000 PMID:25741868
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Urod
uroporphyrinogen decarboxylase
severity
IEP
RGD
PMID:3596746
RGD:21081511
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Abcb6
ATP binding cassette subfamily 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 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Alas2
5'-aminolevulinate synthase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23650938
RGD:18337288
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
G
Cpox
coproporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar
PMID:28492532
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
G
Hmbs
hydroxymethylbilane synthase
severity treatment susceptibility
ISO
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | 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) CTD Direct Evidence: marker/mechanism DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar CTD OMIM RGD
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:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8565205 PMID:8772850 PMID:9067752 PMID:9199558 PMID:9225970 PMID:9281416 PMID:9350165 PMID:9463797 PMID:9536098 PMID:10408772 PMID:10453740 PMID:10494093 PMID:10502788 PMID:11055586 PMID:11399210 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16199547 PMID:16211556 PMID:16817012 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19267997 PMID:19292878 PMID:19401933 PMID:19460837 PMID:19656452 PMID:19656453 PMID:19694018 PMID:20301372 PMID:20978940 PMID:23815679 PMID:24997713 PMID:25016127 PMID:25118551 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27849156 PMID:27884173 PMID:28492532 PMID:29360981 PMID:30740734 PMID:31044425 PMID:31073229 PMID:32581362 PMID:33445488 PMID:34089223 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 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 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Ppox
protoporphyrinogen oxidase
ISO
DNA:missense mutation:exon:p.R59W (mouse)
RGD
PMID:11929050
RGD:4145363
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386 PMID:12406973 PMID:16199547 PMID:25923088 PMID:27539938 PMID:28492532 More...
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Acute Porphyria
ClinVar
PMID:22958180 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Acute Porphyria
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
G
Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Acute Porphyria
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Alad
aminolevulinate dehydratase
ISO
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
OMIM ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:9536098 PMID:10519994 PMID:11071662 PMID:11342419 PMID:15303011 PMID:16398658 PMID:17236137 PMID:17576681 PMID:19015748 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33199206 More...
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:increased expression:liver
RGD
PMID:23390166
RGD:10449130
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Porphyria hepatica II
ClinVar
PMID:22958180 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Cpox
coproporphyrinogen oxidase
ISO
protein:decreased activity:liver (mouse) ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic
ClinVar RGD
PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 PMID:11309681 PMID:12181641 PMID:12227458 PMID:16398658 PMID:25741868 PMID:27959697 PMID:28492532 PMID:33763395 PMID:2079105 More...
RGD:19165350
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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 chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Cutaneous porphyria
ClinVar
PMID:12200364 PMID:17148589 PMID:20301538
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Uros
uroporphyrinogen III synthase
susceptibility
ISO IAGP
ClinVar Annotator: match by term: Cutaneous porphyria DNA:missense mutations,SNP,deletion:cds,introns:multiple
ClinVar OMIM RGD
PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 PMID:8821859 PMID:8829650 PMID:8946173 PMID:9188670 PMID:9803266 PMID:9834209 PMID:11254675 PMID:12060141 PMID:15065102 PMID:15304101 PMID:16365260 PMID:16532394 PMID:19099412 PMID:19965637 PMID:21343304 PMID:21365124 PMID:21570665 PMID:21631301 PMID:22816431 PMID:23557135 PMID:23626549 PMID:25092523 PMID:25741868 PMID:27859603 PMID:28492532 PMID:30685241 PMID:30706587 PMID:31843562 PMID:34828434 PMID:2331520 PMID:30454868 More...
RGD:1599715 , RGD:18937001
NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249
G
Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Ferrochelatase deficiency
ClinVar
PMID:22958180 PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Abcg2
ATP binding cassette subfamily G member 2
ISS
OMIM:177000 | OMIM:300752
MouseDO
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
G
Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
G
Btc
betacellulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
G
Ereg
epiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19267999
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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 RGD
PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 PMID:29906468 PMID:19787086 PMID:10942404 PMID:26280465 PMID:26789144 More...
RGD:14700889 , RGD:14700886 , RGD:14700883 , RGD:11556165
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
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 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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 PMID:7541650 PMID:7910885 PMID:8151124 PMID:8242081 PMID:8276828 PMID:8481408 PMID:8500787 PMID:8601739 PMID:9536098 PMID:9585598 PMID:9649563 PMID:10431482 PMID:10942404 PMID:11753383 PMID:12063482 PMID:12601550 PMID:14669009 PMID:15286165 PMID:15574461 PMID:16199547 PMID:16385445 PMID:16844398 PMID:16958804 PMID:17196862 PMID:17576681 PMID:17711525 PMID:17875872 PMID:18758989 PMID:18787536 PMID:19298273 PMID:20105171 PMID:23016163 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28492532 PMID:29941360 PMID:31304091 More...
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit X
ISO
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28874591
NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
G
Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria
ClinVar
PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 PMID:17875872 PMID:18758989 PMID:20105171 PMID:23016163 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28492532 PMID:29941360 PMID:31304091 More...
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Alas2
5'-aminolevulinate synthase 2
disease_progression
ISO
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
OMIM ClinVar RGD
PMID:18760763 PMID:23263862 PMID:23409301 PMID:28492532 PMID:18760763 PMID:23263862 More...
RGD:18337287 , RGD:18337286
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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 PMID:16159891 PMID:21103937 PMID:24078084 PMID:25741868 PMID:28492532 PMID:6886003 More...
RGD:25671431
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Cpox
coproporphyrinogen oxidase
IEP
protein:decreased activity:liver, mitochondrial inner membrane (rat)
RGD
PMID:19482825
RGD:4144824
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Fech
ferrochelatase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
G
Hmbs
hydroxymethylbilane synthase
IEP
protein:increased activity:liver (rat)
RGD
PMID:6721832
RGD:4144806
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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 chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Hepatoerythropoietic porphyria
ClinVar
PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 PMID:10980536 PMID:23545314 PMID:25741868 PMID:28492532 More...
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Abcb6
ATP binding cassette subfamily 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 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 PMID:9536098 PMID:9888388 PMID:11309681 PMID:11831056 PMID:12181641 PMID:16159891 PMID:17576681 PMID:24078084 PMID:25741868 PMID:27959697 PMID:28492532 PMID:33763395 PMID:12181641 PMID:15896662 PMID:9888388 PMID:30385147 More...
RGD:25671430 , RGD:25671429 , RGD:25671428 , RGD:21079461
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Alad
aminolevulinate dehydratase
treatment
ISO
protein:decreased activity:blood, erythrocyte
RGD
PMID:526041 PMID:8100994
RGD:12904671 , RGD:12904682
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Cpox
coproporphyrinogen oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11831056
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:14714565
RGD:11576310
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:20957336
RGD:11576316
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 RGD
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:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:11134514 PMID:27661980 PMID:17137171 PMID:19001803 More...
RGD:7207253 , RGD:14701050 , RGD:8694367 , RGD:8694347
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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: 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 PMID:7706766 PMID:8644733 PMID:8896428 PMID:9536098 PMID:9792863 PMID:11069625 PMID:11295834 PMID:11719352 PMID:12030801 PMID:15186324 PMID:16199547 PMID:17240319 PMID:17360334 PMID:17576681 PMID:19233912 PMID:19419417 PMID:19656450 PMID:22382040 PMID:23545314 PMID:24777812 PMID:25741868 PMID:28492532 PMID:2920211 PMID:661926 PMID:12426626 More...
RGD:1599713 , RGD:4145077 , RGD:4144182
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
G
Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Porphyria cutanea tarda, type I
ClinVar
PMID:8644733 PMID:25741868 PMID:28492532
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
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 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
G
Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: Variegate porphyria
OMIM ClinVar
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:9536098 PMID:10953950 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11875012 PMID:11904676 PMID:12429850 PMID:12537660 PMID:12584229 PMID:12681966 PMID:12885340 PMID:12952143 PMID:14673107 PMID:15025725 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17240320 PMID:17308297 PMID:17576681 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19214108 PMID:19554541 PMID:19560233 PMID:19759876 PMID:19787796 PMID:20301613 PMID:20560808 PMID:20609690 PMID:20722017 PMID:21243428 PMID:21349849 PMID:21411349 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27518069 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29590070 PMID:30291871 PMID:31220083 PMID:31980526 More...
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Ppox
protoporphyrinogen oxidase
ISO
ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous
OMIM ClinVar
PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 PMID:8852667 PMID:9536098 PMID:9540991 PMID:9738863 PMID:9811936 PMID:9829909 PMID:10401000 PMID:10486317 PMID:10870850 PMID:11173967 PMID:11286631 PMID:11298551 PMID:11348478 PMID:11929051 PMID:12380696 PMID:12655566 PMID:12922165 PMID:15327556 PMID:16433813 PMID:17576681 PMID:18570668 PMID:19845869 PMID:21048046 PMID:21910705 PMID:23409300 PMID:24033266 PMID:25741868 PMID:27982422 PMID:28492532 PMID:28653968 PMID:29130490 PMID:33159949 More...
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all