DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neurofibromatosis 1 ×

Variant: rs199474760 ×

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:

rs199474760

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Six novel mutations in the neurofibromatosis type 1 (NF1) gene.

9298829

1997

dbSNP:

rs199474760

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

8834249

1996

dbSNP:

rs199474760

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:

rs199474760

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

8081387

1994

dbSNP:

rs199474760

NF1

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.800

GeneticVariation

UNIPROT

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

1302608

1992

dbSNP:

rs199474760

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