NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) and its related disorders (NF1-Noonan syndrome (NFNS) and Watson syndrome (WS)) are caused by heterozygous mutations in the NF1 gene. 23047742 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 GeneticVariation disease BEFREE Cardiovascular disease has been well described in patients with Noonan syndrome with PTPN11 mutations but the role of haploinsufficiency for neurofibromin in the heart development and function is not yet well understood. 21567923 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 Biomarker disease BEFREE Constitutive deregulation of the Ras pathway either through activating mutations of PTPN11 or through haploinsufficiency of neurofibromin, which acts as a Ras-inactivating GTP-ase, is probably the common pathogenetic mechanism explaining the phenotypic overlap of NS and NF1. 17103458 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 GeneticVariation disease BEFREE A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. 12661943 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.350 GeneticVariation disease BEFREE Here we provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. 8317503 1993