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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00092 | T-B-Severe combined immunodeficiency | ... recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation ... | Primary immunodeficiency |
ADA [HSA:100] [KO:K01488] RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] AK2 [HSA:204] [KO:K00939] PRKDC [HSA:5591] [KO:K06642] |
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| H02554 | Omenn syndrome | ... Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS (DCLRE1C) mutations has also been reported. | Immune system disease |
RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |