RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Exfoliative dermatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.110 GeneticVariation disease BEFREE Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVbeta family usage, and opportunistic infection. 17572155 2007
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.110 Biomarker disease HPO