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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |