rs1057518904, NF1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990 2015
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. 23404336 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. 23404336 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366 2008
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919 2005
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 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
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
0.700 CausalMutation CLINVAR
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
0.700 CausalMutation CLINVAR
Cafe au lait spots, multiple
CUI: C1861975
Disease: Cafe au lait spots, multiple
0.700 CausalMutation CLINVAR