Reticular dysgenesis Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (Human Disease Ontology, DOID_0060020)
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1 genes associated with the Reticular dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
AK2 adenylate kinase 2