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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00962 | RIDDLE syndrome | ... manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1 ... | Immune system disease | RNF168 [HSA:165918] [KO:K20779] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |