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optic nerve atrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
FDXR
MECR
OPA1
OPA2
CISD2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
negative regulation of response to endoplasmic reticulum stress
sensory perception of light stimulus
GSE27786_NKTCELL_VS_ERYTHROBLAST_UP
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Curated Studies
Most Correlated Studies
OMIM - Behr syndrome
OMIM - GAPO syndrome
OMIM - Intellectual disability
OMIM - Disorder of brain
OMIM - Dystonia
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Literature
Most Relevant Literature
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Optic atrophy differentially diagnosed as spinocerebellar ataxia from Leber hereditary optic neuropa…
Optic atrophy after anti-vascular endothelial growth factor injection in diabetic patients with prol…
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic a…
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
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Clinical Trials
Most Relevant Clinical Trials
Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset N…
High-Resolution Optical Coherence Tomography for Detection of Retinal Nerve Fiber Layer Loss in Band…
Retinal Nerve Fiber Layer Thickness Measurement on Parapapillary Atrophy With the Cirrus High-Defini…
Advanced Characterization of Autosomal Dominant Optic Atrophy
Multisession Radiosurgery for Optic Nerve Sheath Meningiomas
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