Achromatopsia Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C1841721
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Genes

29 genes associated with the disease Achromatopsia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATF6 activating transcription factor 6
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CC2D2A coiled-coil and C2 domain containing 2A
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTF ciliary neurotrophic factor
COASY CoA synthase
COL11A1 collagen, type XI, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
FRMD7 FERM domain containing 7
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
HBB hemoglobin, beta
NBAS neuroblastoma amplified sequence
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NYX nyctalopin
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PAX6 paired box 6
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PLXNA2 plexin A2
POC1B POC1 centriolar protein B
RHO rhodopsin
RPGR retinitis pigmentosa GTPase regulator
STS steroid sulfatase (microsomal), isozyme S