Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Neurofibromatosis 1
|
0.700 | CausalMutation | CLINVAR | A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. | 26478990 | 2015 | |||||
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
|
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
|
0.700 | CausalMutation | CLINVAR | Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. | 18546366 | 2008 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Molecular diagnosis of neurofibromatosis type 1: 2 years experience. | 16944272 | 2007 | |||||
Neurofibromatosis 1
|
0.700 | CausalMutation | CLINVAR | Molecular diagnosis of neurofibromatosis type 1: 2 years experience. | 16944272 | 2007 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. | 16380919 | 2005 | |||||
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
|
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
|
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
|
0.700 | CausalMutation | CLINVAR | Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. | 7981679 | 1994 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. | 7981679 | 1994 | |||||
Neurofibromatoses
|
0.700 | CausalMutation | CLINVAR | ||||||||
Optic Nerve Glioma
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cafe au lait spots, multiple
|
0.700 | CausalMutation | CLINVAR |