Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 19221814

2009
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR [Cardiac life support for acute coronary syndrome]. 12808981

2003
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Pulmonary hypertension in patients with neurofibromatosis type I. 21512413

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. 24932921

2014
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231

2007
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 7655472

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666

2008
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. 12112660

2002