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achromatopsia
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Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
OPN1LW
OPN1MW
RAB11FIP1
CNGA3
CNGB3
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
detection of light stimulus
photoreceptor cell cilium
9+0 non-motile cilium
sensory perception of light stimulus
cilium
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Curated Studies
Most Correlated Studies
OMIM - Blue cone monochromacy
Retinas of dogs with CNGB3-D262N mutation induced achromatopsic treated with intravitreal CNTF
Mouse Phenotypes - Unspecified hereditary retinal dystrophies
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Achromatopsia: Genetics and Gene Therapy.
Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
A new mutation in the PDE6C gene in achromatopsia.
Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
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Clinical Trials
Most Relevant Clinical Trials
Gene Therapy for Achromatopsia (CNGB3)
Gene Therapy for Achromatopsia (CNGA3)
Clinical and Genetic Characterization of Individuals With Achromatopsia
CNTF Implants for CNGB3 Achromatopsia
Natural History Study for Achromatopsia
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