Gene: NF1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy. 9109662 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. 9150739 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. 9180088 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR NF1 mutation analysis using a combined heteroduplex/SSCP approach. 9195229 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 9302992 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. 9385374 1997
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. 9463322 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 9475595 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. 9545275 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR However, we have identified a novel missense mutation in a family with a classical multi-symptomatic NF1 phenotype, including a malignant schwannoma, that specifically abolishes the Ras-GTPase-activating function of neurofibromin. 9668168 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR However, we have identified a novel missense mutation in a family with a classical multi-symptomatic NF1 phenotype, including a malignant schwannoma, that specifically abolishes the Ras-GTPase-activating function of neurofibromin. 9668168 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. 9783703 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Two independent mutations in a family with neurofibromatosis type 1 (NF1). 10076878 1999
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online. 10090487 1999
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online. 10336779 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation. 10451518 1999
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Germline mutations in NF1 patients with malignancies. 10534774 1999
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. 10543400 1999
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. 10677298 2000
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Nf1 and Gmcsf interact in myeloid leukemogenesis. 10678181 2000
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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