Color Blindness Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (Human Disease Ontology, DOID_13399)
External Link https://www.disgenet.org/browser/0/1/0/C0751042
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Genes

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

Symbol Name
ACO2 aconitase 2, mitochondrial
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AMN amnion associated transmembrane protein
ARNT aryl hydrocarbon receptor nuclear translocator
ASCC2 activating signal cointegrator 1 complex subunit 2
ATF6 activating transcription factor 6
BAD BCL2-associated agonist of cell death
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCDC6 coiled-coil domain containing 6
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CREBBP CREB binding protein
CRP C-reactive protein, pentraxin-related
CUX1 cut-like homeobox 1
DNM1L dynamin 1-like
DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3
EIF4E eukaryotic translation initiation factor 4E
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F11 coagulation factor XI
F9 coagulation factor IX
FGF14 fibroblast growth factor 14
FMO1 flavin containing monooxygenase 1
G6PD glucose-6-phosphate dehydrogenase
GDF2 growth differentiation factor 2
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GOLGB1 golgin B1
GSTT1 glutathione S-transferase theta 1
HYLS1 hydrolethalus syndrome 1
IK IK cytokine, down-regulator of HLA II
INS insulin
LOC101060233 medium-wave-sensitive opsin 1
MBD4 methyl-CpG binding domain protein 4
MED1 mediator complex subunit 1
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NR2E3 nuclear receptor subfamily 2, group E, member 3
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PCBP4 poly(rC) binding protein 4
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PMEL premelanosome protein
PON1 paraoxonase 1
PTCH1 patched 1
PTCRA pre T-cell antigen receptor alpha
RET ret proto-oncogene
SART3 squamous cell carcinoma antigen recognized by T cells 3
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SND1 staphylococcal nuclease and tudor domain containing 1
TAS2R38 taste receptor, type 2, member 38
TDRD9 tudor domain containing 9
TEX28 testis expressed 28
TPX2 TPX2, microtubule-associated