DisGeNET - a database of gene-disease associations

Neurofibromatosis 2, C0027832

Gene: NF2 ×

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:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

20178741

2010

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

20445339

2010

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

20178741

2010

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

20445339

2010

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

20445339

2010

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

20178741

2010

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Preimplantation diagnosis for neurofibromatosis.

12709270

2003

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Preimplantation diagnosis for neurofibromatosis.

12709270

2003

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Preimplantation diagnosis for neurofibromatosis.

12709270

2003

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.

10669747

2000

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Detection of novel NF2 mutations by an RNA mismatch cleavage method.

10790209

2000

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.

10669747

2000

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Detection of novel NF2 mutations by an RNA mismatch cleavage method.

10790209

2000

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Detection of novel NF2 mutations by an RNA mismatch cleavage method.

10790209

2000

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.

10669747

2000

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

10090912

1999

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

10090912

1999

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

10090912

1999

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

9643284

1998

dbSNP:

rs74315493

NF2

0.800

GeneticVariation

UNIPROT

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

9643284

1998

dbSNP:

rs74315494

NF2

0.800

GeneticVariation

UNIPROT

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

9643284

1998

dbSNP:

rs74315492

NF2

0.800

GeneticVariation

UNIPROT

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.

8698340

1996