DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Neurofibromatosis 1 ×

Gene: NF1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

25966637

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

25074460

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

26230854

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

126 novel mutations in Italian patients with neurofibromatosis type 1.

26740943

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.

25403449

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

26178382

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

25293717

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

25788518

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.

25480383

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

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

26056819

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

26478990

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

25356970

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

25211147

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

[Phenotypic and genetic features in neurofibromatosis type 1 in children].

25541118

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1.

25624686

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

24951259

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

GeneticVariation

CLINVAR

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.

25877329

2015

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

24932921

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Neurofibromatosis type 1: a single center's experience in Korea.

25324867

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

24789688

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

23656349

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

25326637

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

25325900

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

GeneticVariation

CLINVAR

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

24413922

2014

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

1.000

CausalMutation

CLINVAR

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

24232412

2014