OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 Biomarker disease CTD_human
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 Biomarker disease HPO
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 CausalMutation disease CLINVAR
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		0.100 Biomarker disease HPO
CUI: C4024712
Disease: Abnormal light-adapted electroretinogram
Abnormal light-adapted electroretinogram 		0.100 Biomarker phenotype HPO
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		0.100 Biomarker disease BEFREE <b>Conclusion</b>: i-CBT appears a potentially acceptable intervention for adults with PTSD. 31497259 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE 86.6% of the promoter-associated differentially methylated sites were hypermethylated in BCP ALL. 29125853 2017
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.100 GeneticVariation disease BEFREE 86.6% of the promoter-associated differentially methylated sites were hypermethylated in BCP ALL. 29125853 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.100 GeneticVariation disease BEFREE 86.6% of the promoter-associated differentially methylated sites were hypermethylated in BCP ALL. 29125853 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE HCV infection was associated with changes in the nucleotide sequences of the binding site for the nuclear receptor family in HBV enhancer 2 (Enh2) including the BCP rather than Enh1. 15104371 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.040 AlteredExpression disease BEFREE AML samples were significantly more sensitive to tipifarnib compared to B-cell precursor ALL (BCP ALL) or N BM samples. 16051737 2005
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 AlteredExpression disease BEFREE AML samples were significantly more sensitive to tipifarnib compared to B-cell precursor ALL (BCP ALL) or N BM samples. 16051737 2005
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.090 GeneticVariation disease BEFREE Hepatitis B virus genotype distribution and genotype-specific BCP/preCore substitutions in acute and chronic infections in Argentina. 25822666 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 Biomarker disease BEFREE Dementia caregivers' coping with pre-death grief: effects of a CBT-based intervention. 27792398 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.020 Biomarker disease BEFREE Dementia caregivers' coping with pre-death grief: effects of a CBT-based intervention. 27792398 2018
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 Biomarker disease BEFREE TAO combines CBT and Positive Psychology strategies in order to provide patients with complete support, reducing their clinical symptoms and enhancing their capacity to overcome everyday adversity. 29855281 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.100 GeneticVariation group BEFREE Anxiety disorders are common, yet treatment options in general practice are often limited to medication or CBT. 30012142 2018
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 AlteredExpression disease BEFREE ACS: acute chest syndrome; CBT: chronic blood transfusion; ELISA: enzyme-linked immunosorbent assay; FEV<sub>1</sub>: forced expiratory volume in 1 s; FVC: forced vital capacity; HPLC: high-density liquid chromatography; hs-CRP: highly sensitive C-reactive proteins; HU: hydroxyurea; IL: Interleukin; PEFR: peak expiratory flow rate; SEM: standard error of the mean; TLC: total lung capacity; 25-OHD: 25-hydroxyvitamin D; VOC: vaso-occlusive crisis; WGH: Wesley Guild Hospital. 30295174 2018
CUI: C0275524
Disease: Coinfection
Coinfection 		0.010 GeneticVariation phenotype BEFREE BCP mutations A1762T and G1764A were significantly more frequent in HBV genotype C mono-infection and the -1G frameshift was significantly more frequent in co-infection and was only observed in HBV genotype A co-infection. 20655563 2010
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis 		0.010 Biomarker disease BEFREE BCP/X, enhancer I and surface/polymerase variants were found to be associated almost exclusively with acute hepatitis. 23297244 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.010 GeneticVariation disease BEFREE BCP and PC variants were not associated with development of fulminant hepatic failure from HBV reactivation. 26943169 2016
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		0.100 Biomarker disease BEFREE CBT for Child PTSD is Associated with Reductions in Maternal Depression: Evidence for Bidirectional Effects. 27654496 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.100 Biomarker disease BEFREE CBT for Child PTSD is Associated with Reductions in Maternal Depression: Evidence for Bidirectional Effects. 27654496 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease BEFREE CBT for Child PTSD is Associated with Reductions in Maternal Depression: Evidence for Bidirectional Effects. 27654496 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 Biomarker phenotype BEFREE CBT for Child PTSD is Associated with Reductions in Maternal Depression: Evidence for Bidirectional Effects. 27654496 2019