DisGeNET - a database of gene-disease associations

Retinoblastoma, C0035335

Variant: rs137853296 ×

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:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.

11524739

2001

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

9973307

1999

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively.

10671068

1998

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Genetics of retinoblastoma: a study.

9140452

1997

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

9311732

1997

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.

8776589

1996

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

8605116

1995

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

7795591

1995

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

7704558

1994

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

7927327

1994

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.

8346255

1993

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

1352883

1992

dbSNP:

rs137853296

RB1

0.800

GeneticVariation

UNIPROT

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

2594029

1989

dbSNP:

rs137853296

RB1

0.800

CausalMutation

CLINVAR