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Entry Name Description Category Pathway Gene
H01130 Late-onset retinal degeneration ... with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg) ... Nervous system disease C1QTNF5 [HSA:114902] [KO:K24212]
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