DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

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:

rs147394623

DHDDS

0.740

CausalMutation

CLINVAR

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

21295283

2011

dbSNP:

rs147394623

DHDDS

0.740

GeneticVariation

BEFREE

Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP.

21295282

2011

dbSNP:

rs29001566

RHO

0.740

GeneticVariation

CLINVAR

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

2215617

1990

dbSNP:

rs29001566

RHO

0.740

GeneticVariation

CLINVAR

dbSNP:

rs104893775

RHO

0.730

GeneticVariation

BEFREE

Heterozygous <i>RHO</i> p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.

31239368

2019

dbSNP:

rs104893775

RHO

0.730

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs104893775

RHO

0.730

GeneticVariation

BEFREE

Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W).

30635925

2019

dbSNP:

rs121909398

CERKL

0.730

GeneticVariation

BEFREE

Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus.

31082679

2019

dbSNP:

rs121909398

CERKL

0.730

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs775557680

RHO

0.730

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs121909398

CERKL

0.730

CausalMutation

CLINVAR

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

25999674

2015

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

BEFREE

We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K).

24935155

2014

dbSNP:

rs121909398

CERKL

0.730

CausalMutation

CLINVAR

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

24043777

2013

dbSNP:

rs121909398

CERKL

0.730

CausalMutation

CLINVAR

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

22164218

2011

dbSNP:

rs121909398

CERKL

0.730

CausalMutation

CLINVAR

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

21151602

2010

dbSNP:

rs121909398

CERKL

0.730

GeneticVariation

BEFREE

Remarkably, CERKL (but not the RP R257X mutant) exerts a protective role in cells against oxidative stress, consistent with RP mutations impairing the normal protein function in photoreceptors and thus tilting the balance toward apoptosis.

19158957

2009

dbSNP:

rs104893775

RHO

0.730

GeneticVariation

BEFREE

Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L.

17014888

2006

dbSNP:

rs121909398

CERKL

0.730

GeneticVariation

BEFREE

Furthermore, we propose that the cause for retinitis pigmentosa</span> in patients bearing the CERKL R257X</span> mutation might be the accumulation of a truncated CERKL protein in the nucleus.

15708351

2005

dbSNP:

rs121909398

CERKL

0.730

CausalMutation

CLINVAR

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

14681825

2004

dbSNP:

rs775557680

RHO

0.730

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:

rs775557680

RHO

0.730

GeneticVariation

BEFREE

Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.

11124299

2000

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

CLINVAR

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

1833777

1991

dbSNP:

rs104893773

RHO

0.720

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs121912631

NR2E3

0.720

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs267607077

SNRNP200

0.720

GeneticVariation

BEFREE

Taken together, our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the RP-linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function.

24302620

2014