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GENE - TERM ANNOTATION REPORT

RGD ID: 11752023
Species: Pan paniscus
RGD Object: Gene
Symbol: PLCG2
Name: phospholipase C gamma 2
Acc ID: DOID:9008464
Term: Cryopyrin-Associated Periodic Syndromes
Definition: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
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)
PLCG2 ISOPLCG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATEDPMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256
PLCG2 ISOPLCG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndromePMID:16199547 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29921932 PMID:30619256
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