DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neurofibromatosis 1 ×

Variant: rs199474742 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

2114220

1990

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

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

20065170

2010

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

1302608

1992

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

7981679

1994

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

9150739

1997

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

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

21838856

2011

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

CausalMutation

CLINVAR

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

7655472

1995

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

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

15604628

2004

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

CLINVAR

Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.

8628317

1996

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

CLINVAR

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

21520333

2011

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

CausalMutation

CLINVAR

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

26056819

2015

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

CausalMutation

CLINVAR

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

16944272

2007

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

CausalMutation

CLINVAR

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

23668869

2013

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

9003501

1997

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

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

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

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

17636453

2007

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

15520408

2004

dbSNP:

rs199474742

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

NF1 gene analysis based on DHPLC.

12552569

2003