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GENE - TERM ANNOTATION REPORT

RGD ID: 1321506
Species: Homo sapiens
RGD Object: Gene
Symbol: PPOX
Name: protoporphyrinogen oxidase
Acc ID: DOID:9007255
Term: Variegate Porphyria, Childhood-Onset
Definition: A rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. Caused by homozygous or compound heterozygous mutation in the protoporphyrinogen oxidase gene (PPOX) on chromosome 1q23.
Definition Source(s): MIM:620483
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PPOX IAGP 7240710OMIM  
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:21048046 PMID:25741868 PMID:28492532 PMID:9540991 PMID:9811936
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:2317449 PMID:9738863
PPOX IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:10870850
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:33159949
PPOX IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:11298551
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:29130490 PMID:8673113 PMID:8817334
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:10401000 PMID:10870850 PMID:12922165 PMID:21910705 PMID:23409300 PMID:25741868 PMID:28492532 PMID:8290408 PMID:8673113 PMID:8817334
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:9811936
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:10486317 PMID:11286631 PMID:3319294
PPOX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Variegate porphyria, childhood-onsetPMID:10486317 PMID:11286631 PMID:25741868 PMID:28492532
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