DisGeNET - a database of gene-disease associations

Retinoblastoma, C0035335

Variant: rs587778850 ×

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:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

28193182

2017

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma.

24336570

2014

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

19339519

2009

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

18449911

2008

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in hereditary familial retinoblastoma.

17096365

2007

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

[Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling].

16595082

2006

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

14722923

2004

dbSNP:

rs587778850

RB1

0.700

CausalMutation

CLINVAR

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

12541220

2003