OPN1LW, opsin 1, long wave sensitive, 5956

N. diseases: 197; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700). 30614359 2019
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE The present report provides the clinical findings and the genetic basis underlying a sporadic BCM case which is caused by a de novo deletion within the OPN1LW/MW gene cluster originating from the mother's germline due to Alu-repeat mediated recombination. 29940872 2018
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM.In Case 1, only one gene was present. 30065301 2018
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE Human blue cone monochromacy (BCM) is characterized by functional loss of both L- and M-cone opsins due to mutations in the OPN1LW/OPN1MW gene cluster on the X chromosome. 28751656 2017
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker disease MGD Human blue cone monochromacy (BCM) is characterized by functional loss of both L- and M-cone opsins due to mutations in the OPN1LW/OPN1MW gene cluster on the X chromosome. 28751656 2017
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE Blue cone monochromacy (BCM) is an X-linked condition caused by a loss-of-function of both the OPN1LW and OPN1MW opsin genes. 26153062 2016
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker disease BEFREE De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. 27339364 2016
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease BEFREE BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. 24067079 2013
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GermlineCausalMutation disease ORPHANET Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. 15069569 2004
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker disease GENOMICS_ENGLAND A new mechanism in blue cone monochromatism. 8792812 1996
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease UNIPROT Gene conversion between red and defective green opsin gene in blue cone monochromacy. 8666378 1995
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 GeneticVariation disease UNIPROT Genetic heterogeneity among blue-cone monochromats. 8213841 1993
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker disease CTD_human
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker disease HPO
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 CausalMutation disease CLINVAR
CUI: C3887980
Disease: Protanomaly
Protanomaly 		0.620 GeneticVariation disease BEFREE Here, we investigated the functions of key acetyltransferases CBP/p300 in adipose remodeling and their physiological effects by generating adipose-specific deletion of CBP (Cbp-AKO), p300 (p300-AKO) and double-knockout (Cbp/p300-AKO) models. 30530904 2019
CUI: C3887980
Disease: Protanomaly
Protanomaly 		0.620 Biomarker disease BEFREE RT-PCR amplification of MOZ/CBP (MYST3/CREBBP) chimera has proved difficult, with four different transcripts found in four reported cases. 15101047 2004
CUI: C3887980
Disease: Protanomaly
Protanomaly 		0.620 GeneticVariation disease UNIPROT Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 12051694 2002
CUI: C3887980
Disease: Protanomaly
Protanomaly 		0.620 Biomarker disease HPO
CUI: C3887980
Disease: Protanomaly
Protanomaly 		0.620 Biomarker disease CTD_human
CUI: C3159311
Disease: BORNHOLM EYE DISEASE
BORNHOLM EYE DISEASE 		0.300 GeneticVariation disease ORPHANET Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. 23322568 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.300 GermlineCausalMutation disease ORPHANET X-linked cone dystrophy caused by mutation of the red and green cone opsins. 20579627 2010
CUI: C2931753
Disease: Achromatopsia incomplete, X-linked
Achromatopsia incomplete, X-linked 		0.300 GermlineCausalMutation disease ORPHANET Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. 15069569 2004
CUI: C3887937
Disease: CONE DYSTROPHY 5, X-LINKED
CONE DYSTROPHY 5, X-LINKED 		0.200 Biomarker disease MGD Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. 28751656 2017
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		0.110 GeneticVariation disease BEFREE Here, we show that LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course. 28358949 2017