DisGeNET - a database of gene-disease associations

RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71

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:

rs104893768

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893769

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893770

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893771

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893772

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893773

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893774

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893775

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893776

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893777

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893779

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893780

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893781

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893782

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893786

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893787

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893788

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893792

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893793

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893794

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs104893795

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs28933394

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs28933395

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs28933993

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009

dbSNP:

rs29001637

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.800

GeneticVariation

UNIPROT

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

19960070

2009