DisGeNET - a database of gene-disease associations

Retinoblastoma, C0035335

Variant: rs1555284956 ×

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:

rs1555284956

RB1

0.700

CausalMutation

CLINVAR

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

26539030

2015

dbSNP:

rs1555284956

RB1

0.700

CausalMutation

CLINVAR

Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

24225018

2014

dbSNP:

rs1555284956

RB1

0.700

CausalMutation

CLINVAR

Outcomes of integrating genetics in management of patients with retinoblastoma.

22084214

2011

dbSNP:

rs1555284956

RB1

0.700

CausalMutation

CLINVAR

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

11317357

2001

dbSNP:

rs1555284956

RB1

0.700

CausalMutation

CLINVAR