Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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: 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: 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: 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: 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: 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: 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 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: 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: 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: 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: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GeneticVariation disease UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GeneticVariation disease UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 GeneticVariation disease BEFREE Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
0.740 Biomarker disease BEFREE However, M-CBT treatment did not show significant superiority over standard CBT in the present sample. 30346186 2018
Entrez Id: 405
Gene Symbol: ARNT
ARNT
0.010 GeneticVariation disease BEFREE Exome analysis of 52 CBTs revealed potential driver mutations (PDMs) in 21 genes: ARNT, BAP1, BRAF, BRCA1, BRCA2, CDKN2A, CSDE1, FGFR3, IDH1, KIF1B, KMT2D, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SETD2, TP53BP1, TP53BP2, and TP53I13. 29504908 2018
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
0.010 Biomarker disease BEFREE Compared with the HLS + CBT control condition, the ERT + CBT condition demonstrated higher abstinence rates at 2 months (ERT + CBT = 23% vs. HLS + CBT = 0%, OR = 13.51; 95% CI = 0.70-261.59) and 4 months (ERT = 18% vs. HLS = 5%; OR = 2.98; 95% CI = 0.39-22.72) post-quit. 28403472 2017
Entrez Id: 122402
Gene Symbol: TDRD9
TDRD9
0.010 Biomarker disease BEFREE Compared with the HLS + CBT control condition, the ERT + CBT condition demonstrated higher abstinence rates at 2 months (ERT + CBT = 23% vs. HLS + CBT = 0%, OR = 13.51; 95% CI = 0.70-261.59) and 4 months (ERT = 18% vs. HLS = 5%; OR = 2.98; 95% CI = 0.39-22.72) post-quit. 28403472 2017
Entrez Id: 1999
Gene Symbol: ELF3
ELF3
0.010 Biomarker disease BEFREE Compared with the HLS + CBT control condition, the ERT + CBT condition demonstrated higher abstinence rates at 2 months (ERT + CBT = 23% vs. HLS + CBT = 0%, OR = 13.51; 95% CI = 0.70-261.59) and 4 months (ERT = 18% vs. HLS = 5%; OR = 2.98; 95% CI = 0.39-22.72) post-quit. 28403472 2017
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 Biomarker disease BEFREE CBT did not significantly influence disease activity as measured by disease activity indices at 24 months (Crohn's Disease Activity Index (CDAI), p = 0.92; Simple Clinical Colitis Activity Index (SCCAI), p = 0.88) or blood parameters (C-reactive protein (CRP), p < 0.62; haemoglobin (Hb), p = 0.77; platelet, p = 0.64; white cell count (WCC), p = 0.59) nor did CBT significantly affect mental health, coping or quality of life (all p > 0.05). 27432441 2017
Entrez Id: 842
Gene Symbol: CASP9
CASP9
0.010 Biomarker disease BEFREE Biochemical analyses of the cells, isolated by the primary lung tumor in alpha-CbT-treated mice, showed apoptosis features characterized by: (i) inhibition of BAD phosphorylation at Ser(112) and Ser(136); (ii) BAD dissociation from 14-3-3; (iii) BAD association with BCL-XL; and (iv) cleavage of caspase-9. 19326440 2009
Entrez Id: 572
Gene Symbol: BAD
BAD
0.010 Biomarker disease BEFREE Biochemical analyses of the cells, isolated by the primary lung tumor in alpha-CbT-treated mice, showed apoptosis features characterized by: (i) inhibition of BAD phosphorylation at Ser(112) and Ser(136); (ii) BAD dissociation from 14-3-3; (iii) BAD association with BCL-XL; and (iv) cleavage of caspase-9. 19326440 2009