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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is caused by heterozygous mutation in the NF1 gene. 31776437 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker disease BEFREE Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by pathogenic variants of the NF1 gene. 31495828 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromin is a tumor suppressor encoded by the NF1 gene which is mutated in the Rasopathy disease neurofibromatosis type I. 31836666 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker disease BEFREE Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. 30963251 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker disease BEFREE Neurofibromatosis-1 (NF-1) has a known increased risk of malignancy with rhabdomyosarcoma occurring in up to 6% of patients. 31794814 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE We present a unique case of NF1 with anaplastic astrocytoma that revealed a rare splice error mutation in the NF1 gene in the family. 31678437 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. 31703719 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Inactivating variants in the NF1 gene have been identified to be correlated with NF1. 31347283 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 AlteredExpression disease BEFREE These NF1 minigenes were expressed similarly to the intronless version and could be used to purify full-length NF1 proteins. 30408279 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. 29644913 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 AlteredExpression disease BEFREE The present findings provide preliminary evidence for a role of circuits controlling NF1 transcript processing in modulating NF1 expressivity, and document an association between the levels of neurofibromin isoform I mRNA and the severity of phenotype and cognitive impairment in NF1. 31730495 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS. 31234911 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker disease BEFREE Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners. 31466283 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. 30843352 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Mutations in neurofibromatosis-1 (NF1) were also overrepresented [16.7% MBCs compared to ∼5% of breast cancers overall; enrichment p = 0.028; mutation significance p = 0.006 (OncodriveFM)], consistent with published case reports implicating germline NF1 mutations in MBC risk. 30350370 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Coherent spontaneous fluctuations in the fMRI signal across the entire brain were used to interrogate the pattern of functional organization of corticocortical and corticostriatal networks in both NF1 pediatric patients and mice with a heterozygous mutation in the Nf1 gene (Nf1<sup>+/-</sup>). 31128207 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker disease BEFREE Neurofibromin, the protein product of the neurofibromatosis type 1 (NF1) tumor suppressor gene, is a negative regulator of Ras signaling. 31201114 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1. 31189769 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 AlteredExpression disease BEFREE Neurofibromatosis type 1 (NF1) is a cancer predisposition disorder that results from inactivation of the tumor suppressor neurofibromin, a negative regulator of RAS signaling. 30348677 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Using whole-exome sequencing and Multiplex Ligation-Dependent Probe Amplification, 44 out of 55 NF1 CPT patients (80.0%) were identified as carrying pathogenic variants of the NF1 gene. 31533797 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia. 31048186 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE NF1 and Legius syndrome are caused by alterations in the NF1 and SPRED1 genes encoding the Ras inhibitors neurofibromin and Spred1 (sprouty related EVH1 domain-containing protein), respectively. 31401120 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder resulting from germline mutations in the NF1 gene, which encodes neurofibromin. 31246731 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE We found that the predisposing germline mutation of the NF1 gene was frequently converted to homozygosity and the somatic mutational load of NF1-glioma was influenced by age and grade. 30531922 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. 29704429 2019