DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neurofibromatosis 1 ×

Variant: rs786202112 ×

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:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

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

25325900

2014

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

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

24932921

2014

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

23913538

2013

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

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

23668869

2013

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

18484666

2008

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

18546366

2008

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

GeneticVariation

BEFREE

Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A.

16961930

2006

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

12807981

2003

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

11857752

2002

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

10980545

2000

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

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:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

CausalMutation

CLINVAR

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

10607834

2000

dbSNP:

rs786202112

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.710

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