DisGeNET - a database of gene-disease associations

Neurofibromatosis 2, C0027832

Variant: rs74315504 ×

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:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.

26066488

2015

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

Application of COLD-PCR for improved detection of NF2 mosaic mutations.

24815379

2014

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

18766994

2008

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

[Phenotype-genotype study in 154 French NF2 mutation carriers].

18033041

2007

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.

12566519

2003

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

Mutational analysis of patients with neurofibromatosis 2.

7913580

1994

dbSNP:

rs74315504

NF2

0.700

CausalMutation

CLINVAR

Exon scanning for mutation of the NF2 gene in schwannomas.

8012353

1994