Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 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 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 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 CTD_human
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 Biomarker disease HPO
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 CausalMutation disease CLINVAR
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.300 Biomarker disease CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.300 Biomarker disease CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
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: 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: 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: 10002
Gene Symbol: NR2E3
NR2E3 		0.100 Biomarker disease HPO
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		0.100 Biomarker disease HPO
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 Biomarker disease HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker disease HPO
Entrez Id: 5444
Gene Symbol: PON1
PON1 		0.020 Biomarker disease BEFREE Among exposed children, CBT risk increased per PON1-108T allele [odds ratio (OR) = 1.8; 95% confidence interval (CI), 1.1-3.0] and FMO1-9536A (*6) allele (OR = 2.7; 95% CI, 1.2-5.9), whereas among children never exposed, CBT risk was not increased (PON1: OR = 0.7; 95% CI, 0.5-1.0, interaction p = 0.005; FMO1: OR = 1.0; 95% CI, 0.6-1.6, interaction p = 0.009). 20056567 2010
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: 106480993
Gene Symbol: RN7SL263P
RN7SL263P 		0.010 Biomarker disease BEFREE A multivariate analysis of pre-transplant variables showed that the age, gender, cytogenetic subgroups, number of RBC transfusions, HCT-CI and year of CBT significantly influenced the outcome. 30842405 2019
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