OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Disease: Color Blindness, Blue ×
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 BEFREE However, M-CBT treatment did not show significant superiority over standard CBT in the present sample. 30346186 2018
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		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
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		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
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GeneticVariation disease UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GeneticVariation disease UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GeneticVariation disease UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.740 GeneticVariation disease BEFREE Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
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