Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 GeneticVariation disease BEFREE We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dysplasia. 29155098 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 GeneticVariation disease BEFREE Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. 27063589 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease GENOMICS_ENGLAND ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. 20004786 2009