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 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: 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: 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: 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: 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: 2326
Gene Symbol: FMO1
FMO1
0.010 GeneticVariation 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: 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
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: 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: 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: 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: 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: 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 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 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