DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs886041347 ×

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:

rs886041347

NF1

0.700

CausalMutation

CLINVAR

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

26969325

2016

dbSNP:

rs886041347

NF1

0.700

CausalMutation

CLINVAR

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

23668869

2013

dbSNP:

rs886041347

NF1

0.700

CausalMutation

CLINVAR

A highly sensitive genetic protocol to detect NF1 mutations.

21354044

2011

dbSNP:

rs886041347

NF1

0.700

CausalMutation

CLINVAR

Double inactivation of NF1 in tibial pseudarthrosis.

16773574

2006

dbSNP:

rs886041347

NF1

0.700

CausalMutation

CLINVAR

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

15146469

2004