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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01020 | Optic atrophy | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion ... | Nervous system disease |
(OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] (OPA14) MIEF1 [HSA:54471] [KO:K23507] (OPA15) MCAT [HSA:27349] [KO:K00645] (OPA16) MECR [HSA:51102] [KO:K07512] |
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| H02445 | Microcornea, myopic chorioretinal atrophy, and telecanthus | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role ... | Congenital malformation | ADAMTS18 [HSA:170692] [KO:K08632] |
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