DisGeNET - a database of gene-disease associations

RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71

Disease: Retinitis Pigmentosa 4 ×

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:

rs104893791

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs1424131846

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs1553781140

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs183318466

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs766161322

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs774336493

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

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

19960070

2009

dbSNP:

rs104893791

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs1424131846

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs1553781140

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs183318466

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs766161322

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs774336493

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

12566452

2003

dbSNP:

rs104893791

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs1424131846

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs1553781140

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs183318466

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs766161322

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs774336493

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

8554077

1996

dbSNP:

rs104893791

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs1424131846

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs1553781140

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs183318466

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs766161322

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs774336493

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

7633434

1995

dbSNP:

rs104893791

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C3151001
Disease:

Retinitis Pigmentosa 4

0.700

GeneticVariation

UNIPROT

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

7981701

1994