achromatopsia Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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

9 genes co-occuring with the biological term achromatopsia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
CHM choroideremia (Rab escort protein 1)
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
RP1 retinitis pigmentosa 1 (autosomal dominant)
USH2A Usher syndrome 2A (autosomal recessive, mild)