Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.430 Biomarker phenotype CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.430 GeneticVariation phenotype LHGDN Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 18445228 2008
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.430 GeneticVariation phenotype LHGDN Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.430 GeneticVariation phenotype LHGDN Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.430 Biomarker phenotype HPO
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.420 Biomarker phenotype CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.420 GeneticVariation phenotype LHGDN Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 17265047 2007
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.420 GeneticVariation phenotype LHGDN Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.420 Biomarker phenotype HPO
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		0.410 GeneticVariation phenotype LHGDN Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 12077706 2002
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		0.410 Biomarker phenotype CTD_human Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 12077706 2002
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		0.410 Biomarker phenotype HPO
Entrez Id: 22926
Gene Symbol: ATF6
ATF6 		0.400 Biomarker phenotype CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
Entrez Id: 22926
Gene Symbol: ATF6
ATF6 		0.400 Biomarker phenotype HPO
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H 		0.300 Biomarker phenotype CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.110 GeneticVariation phenotype BEFREE A subsequent diagnosis of autosomal dominant optic atrophy was made when the proband's sons presented with mild visual disturbances and color vision defects, confirmed with electrophysiology and OPA1 gene mutational analysis. 20083290 2010
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.110 Biomarker phenotype HPO
Entrez Id: 11315
Gene Symbol: PARK7
PARK7 		0.100 Biomarker phenotype HPO
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW 		0.100 Biomarker phenotype HPO
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 Biomarker phenotype HPO
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141 		0.100 Biomarker phenotype HPO
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.100 Biomarker phenotype HPO
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4 		0.100 Biomarker phenotype HPO
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.100 Biomarker phenotype HPO