DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1131690858 ×

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:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

Genetic screening in patients with Retinoblastoma in Israel.

25754945

2015

dbSNP:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

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

18449911

2008

dbSNP:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

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

12541220

2003

dbSNP:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

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

8605116

1995

dbSNP:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

Spectrum of small length germline mutations in the RB1 gene.

7881418

1994

dbSNP:

rs1131690858

RB1

0.700

CausalMutation

CLINVAR

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

8346255

1993