| Dataset | CTD 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 | http://ctdbase.org/detail.go?type=disease&acc=MESH:C538361 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Reticular dysgenesis from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| AK2 | adenylate kinase 2 | 2.88009 |
