×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
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
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
GeneticVariation
disease
UNIPROT
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
20579627
2010
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
GermlineCausalMutation
disease
ORPHANET
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
15069569
2004
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
GeneticVariation
disease
UNIPROT
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
8666378
1995
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
Biomarker
disease
CTD_human
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
CausalMutation
disease
CLINVAR
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
0.770
Biomarker
disease
HPO