DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

Gene: RHO ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104893781

RHO

0.710

GeneticVariation

CLINVAR

dbSNP:

rs104893781

RHO

0.710

GeneticVariation

BEFREE

Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa.

9228242

1997

dbSNP:

rs104893786

RHO

0.710

GeneticVariation

BEFREE

To determine the phenotype of a Japanese family in which retinitis pigmentosa cosegregates with a rhodopsin gene mutation, i.e. an asparagine-to-serine change at codon 15 (Asn-15-Ser), 5 affected and 5 unaffected members of one pedigree underwent several ophthalmic examinations as well as Ganzfeld electroretinography (ERG) and multifocal ERG.

9483582

1998

dbSNP:

rs200946638

RHO

0.710

GeneticVariation

BEFREE

For example, three retinitis pigmentosa pedigrees were solved by identifying VUS which showed low expression levels (p.G18D, p.G101V, and p.P180T).

30977563

2019

dbSNP:

rs104893794

RHO

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553780837

RHO

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553781176

RHO

0.700

GeneticVariation

CLINVAR

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

11139241

2001

dbSNP:

rs28933395

RHO

0.700

GeneticVariation

CLINVAR

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

1301135

1992

dbSNP:

rs527236101

RHO

0.700

GeneticVariation

CLINVAR

dbSNP:

rs527236102

RHO

0.700

GeneticVariation

CLINVAR

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Many vertebrate models of retinal degeneration have been created through expression of RP-linked rhodopsins in photoreceptors including, but not limited to, VPP/GHL mice, P23H Rhodopsin frogs, P23H rhodopsin rats, S334ter rhodopsin rats, C185R rhodopsin mice, T17M rhodopsin mice, and P23H rhodopsin mice.

24664747

2014

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.

31100078

2019

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

We show that expression of P23H, but not wild-type rhodopsin, results in a generalized impairment of the ubiquitin proteasome system, suggesting a mechanism for photoreceptor degeneration that links RP to a broad class of neurodegenerative diseases.

12091393

2002

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

P23H rats were crossed with pigmented Long Evans rats to produce offspring exhibiting the clinical conditions of RP.

30006118

2018

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Patients with retinitis pigmentosa and the pro-23-his rhodopsin mutation had a decrease in the gain of activation.

7601641

1995

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO).

24664733

2014

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene.

1418997

1992

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

In a cell model of P23H rod opsin RP, arimoclomol reduced P23H rod opsin aggregation and improved viability of mutant rhodopsin-expressing cells.

24853414

2014

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin.

17715341

2007

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.

15126168

2004

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Three lines were generated with a proline to histidine substitution at codon 23 (P23H), the most common autosomal dominant form of retinitis pigmentosa in the United States.

29122605

2018

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.

12140048

2002

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.

29281027

2018

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

The P23H mutation, the most frequent single cause of RP in the USA, causes rhodopsin misfolding and induction of the unfolded protein response (UPR), an adaptive ER stress response and signalling network that aims to enhance the folding and degradation of misfolded proteins to restore proteostasis.

29036441

2017

dbSNP:

rs104893768

RHO

0.100

GeneticVariation

BEFREE

Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa.

20805032

2010