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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]
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