PLCG2, phospholipase C gamma 2, 5336

N. diseases: 82; N. variants: 11
Disease: PLCG2-associated antibody deficiency and immune dysregulation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4722480
Disease: PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation 		0.320 GeneticVariation disease BEFREE PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an autosomal dominant inherited disease caused by genomic deletion in PLCG2 and is characterized by cold urticaria, humoral immune deficiency, cutaneous granulomas, and autoimmune disease. 31633221 2020
CUI: C4722480
Disease: PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation 		0.320 GeneticVariation disease BEFREE In this retrospective analysis of patients with PLAID and PLAID-like disease evaluated at the National Institutes of Health from January 1, 2005, through December 31, 2014, patients with deletions in PLCG2 leading to PLAID and patients with PLAID-like disease for whom a PLAID mutation was not identified were studied. 25760457 2015
CUI: C4722480
Disease: PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation 		0.320 GermlineCausalMutation disease ORPHANET A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. 23000145 2012
CUI: C4722480
Disease: PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation 		0.320 GermlineCausalMutation disease ORPHANET Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. 22236196 2012