Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
0.010 GeneticVariation disease BEFREE In family 2, three cases of SDHD mutation were found with one case of bilateral CBT and two cases of unilateral CBT. 30484866 2019
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
0.300 Biomarker disease CTD_human Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 12077706 2002
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 Biomarker disease BEFREE Participants were 125 youth, aged 8-17 years, with a primary diagnosis of SAD, who were randomly assigned to generic CBT (CBT-GEN), social anxiety specific CBT (CBT-SAD) or a wait list control (WLC). 27988427 2017
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 Biomarker disease BEFREE Some evidence suggests equivalence between tCBT and diagnosis-specific CBT (dxCBT), however more investigations are necessary to clarify any difference in efficacy. 27466074 2017
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GeneticVariation disease UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H
0.300 Biomarker disease 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: 6391
Gene Symbol: SDHC
SDHC
0.010 GeneticVariation disease BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710 2012
Entrez Id: 5444
Gene Symbol: PON1
PON1
0.020 GeneticVariation disease BEFREE The risk of CBT was nonsignificantly increased in relation to the inefficient PON1 promoter allele [per PON1(-108T) allele, relative to PON1(-108CC): odds ratio (OR) = 1.4; 95% confidence interval (CI), 1.0-2.2; p-value for trend = 0.07]. 16002382 2005
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
0.010 GeneticVariation disease BEFREE There was weak evidence of a reduced risk of CBT for the MTRR 66GG genotype in the child or father: ORs 0.71 [95% confidence interval (CI), 0.48-1.07]; 0.54 (95% CI, 0.34-0.87), respectively. 25809864 2015
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1
0.010 GeneticVariation disease BEFREE We analyzed population-based case-control data to examine whether CBT is associated with the functional genetic polymorphisms PON1C-108T, PON1Q192R, PON1L55M, BCHEA539T, FMO1C-9536A, FMO3E158K, ALDH3A1S134A, and GSTT1 (null). 20056567 2010
Entrez Id: 2078
Gene Symbol: ERG
ERG
0.010 Biomarker disease BEFREE We believe that congenital tritanopia and DIJOA are distinct disease entities and that the blue cone ERG is a key factor in the differential diagnosis. 3876823 1985