Achromatopsia Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category	disease or phenotype associations
Type	disease
Description	A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (Human Disease Ontology, DOID_13911)
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Genes

5 genes involed in the disease Achromatopsia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol	Name	Standardized Value
CNGB3	cyclic nucleotide gated channel beta 3	5.0
GNAT2	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	5.0
PDE6C	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	5.0
PDE6H	phosphodiesterase 6H, cGMP-specific, cone, gamma	5.0
CNGA3	cyclic nucleotide gated channel alpha 3	5.0