DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa 7, C1842475

Gene: PRPH2 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs61755806

PRPH2

0.800

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs61755816

PRPH2

0.800

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

1749427

1991

dbSNP:

rs61755806

PRPH2

0.800

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs61755816

PRPH2

0.800

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

7862413

1995

dbSNP:

rs61755806

PRPH2

0.800

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs61755816

PRPH2

0.800

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

8020945

1994

dbSNP:

rs61755806

PRPH2

0.800

GeneticVariation

UNIPROT

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

10627133

1998

dbSNP:

rs61755816

PRPH2

0.800

GeneticVariation

UNIPROT

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

10627133

1998

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

10627133

1998

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

10627133

1998