DisGeNET - a database of gene-disease associations

Neurofibromatosis 1, C0027831

Variant: rs199474742 ×

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:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

26056819

2015

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

24413922

2014

dbSNP:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

23668869

2013

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

23758643

2013

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

21838856

2011

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

20065170

2010

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

17636453

2007

dbSNP:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

16944272

2007

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

CLINVAR

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

16380919

2005

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

CLINVAR

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

15060124

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

15523642

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

15520408

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

15060124

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

15146469

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

12746402

2003

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

NF1 gene analysis based on DHPLC.

12552569

2003

dbSNP:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

11857752

2002

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

CLINVAR

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

10712197

2000

dbSNP:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

10862084

2000

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

10607834

2000

dbSNP:

rs199474742

NF1

0.800

CausalMutation

CLINVAR

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

10712197

2000

dbSNP:

rs199474742

NF1

0.800

GeneticVariation

UNIPROT

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

9668168

1998