Optic Atrophy 11 (OPA11)

Optic Atrophy 11(来自ICD-11)
别称:
Opa11
Atrophy, Optic, Type 11
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Optic Atrophy 11, also known as opa11, is related to charcot-marie-tooth disease type 2a2b and spastic ataxia 5. An important gene associated with Optic Atrophy 11 is YME1L1 (YME1 Like 1 ATPase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Transcriptional activation of mitochondrial biogenesis. Affiliated tissues include brain and retina, and related phenotypes are intellectual disability and global developmental delay
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MALACARDS
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13
77
1

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