DisGeNET - a database of gene-disease associations

OPN1MW, opsin 1, medium wave sensitive, 2652

N. diseases: 107; N. variants: 5

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0339537
Disease:

Cone monochromatism

0.810

GeneticVariation

BEFREE

In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic.

23139274

2012

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0339537
Disease:

Cone monochromatism

0.810

GeneticVariation

UNIPROT

Gene conversion between red and defective green opsin gene in blue cone monochromacy.

8666378

1995

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0339537
Disease:

Cone monochromatism

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.

12051694

2002

dbSNP:

rs104894915

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.

12051694

2002

dbSNP:

rs104894916

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.

12051694

2002

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Defective colour vision associated with a missense mutation in the human green visual pigment gene.

1302020

1992

dbSNP:

rs104894915

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Defective colour vision associated with a missense mutation in the human green visual pigment gene.

1302020

1992

dbSNP:

rs104894916

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

GeneticVariation

UNIPROT

Defective colour vision associated with a missense mutation in the human green visual pigment gene.

1302020

1992

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894915

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894916

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606927

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0339537
Disease:

Cone monochromatism

0.700

GeneticVariation

UNIPROT

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

20579627

2010

dbSNP:

rs267606927

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887937
Disease:

CONE DYSTROPHY 5, X-LINKED

0.700

CausalMutation

CLINVAR

dbSNP:

rs724159983

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C3887938
Disease:

Deuteranomaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0028738
Disease:

Nystagmus

0.010

GeneticVariation

BEFREE

Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients.

25168334

2014

dbSNP:

rs104894914

Entrez Id:	2652
Gene Symbol:	OPN1MW

OPN1MW

CUI:	C0042798
Disease:

Low Vision

0.010

GeneticVariation

BEFREE

Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients.

25168334

2014