OPN1MW, opsin 1, medium wave sensitive, 2652

N. diseases: 107; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 Biomarker disease BEFREE Our results showing that the remaining M-opsin dominant cones in aged Opn1mw-/- mice can still be rescued by gene therapy is helpful for establishing the window of treatability in future blue cone monochromacy clinical trials. 31469404 2019
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 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
0.770 GeneticVariation disease BEFREE A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. 29940872 2018
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 Biomarker disease BEFREE We generated an M-opsin knockout mouse (Opn1mw <sup>-/-</sup>) expressing only S-opsin as a model for human BCM. 28751656 2017
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 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
0.770 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
0.770 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
0.770 GeneticVariation disease UNIPROT X-linked cone dystrophy caused by mutation of the red and green cone opsins. 20579627 2010
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 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
0.770 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
0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 Biomarker disease CTD_human
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 CausalMutation disease CLINVAR
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
0.770 Biomarker disease HPO
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 AlteredExpression disease BEFREE CBD gene expression data were compared with whole blood and lung tissue in sarcoidosis from the Gene Expression Omnibus.We confirmed almost 450 genes that were significantly differentially expressed between CBD and controls. 27103383 2016
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 GeneticVariation disease BEFREE In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3′ untranslated region (3′UTR) in a large cohort of autopsy-confirmed CBD patients (N = 109). 24121548 2014
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 GeneticVariation disease UNIPROT Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 12051694 2002
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 GeneticVariation disease UNIPROT Defective colour vision associated with a missense mutation in the human green visual pigment gene. 1302020 1992
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 Biomarker disease CTD_human
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 CausalMutation disease CLINVAR
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.620 Biomarker disease HPO
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: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green
0.120 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