| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| External Link | https://www.disgenet.org/browser/0/1/0/C0272167 |
| Similar Terms | |
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2 genes associated with the disease Reticular Dysgenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
