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Entry Name Description Category Pathway Gene
H01746 STING-associated vasculopathy with onset in infancy ... infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene ... Immune system disease STING1 [HSA:340061] [KO:K12654]
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