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 The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 19221814 2009
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. 17426081 2007
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. 11857752 2002
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR [Cardiac life support for acute coronary syndrome]. 12808981 2003
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. 19142971 2009
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Pulmonary hypertension in patients with neurofibromatosis type I. 21512413 2011
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. 24932921 2014
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. 8834249 1996
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. 28068329 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231 2007
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Identification of a CD8alpha(+) dendritic cell subpopulation in rat spleen and evaluation of its OX-62 expression. 11726231 2001
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. 21278392 2011
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 12872266 2003
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. 12483293 2003
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 DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. 11735023 2001
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897 2006
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 Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. 26840085 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 7655472 1995
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 29449315 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. 16870183 2006
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666 2008
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. 12112660 2002