RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Lymphopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.010 GeneticVariation disease BEFREE Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. 19246248 2009