NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Learning Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.340 Biomarker disease BEFREE The functions of neurofibromin and VCP in spinogenesis were shown to correlate with the learning disability and dementia phenotypes seen in patients with IBMPFD. 22105171 2011
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.340 Biomarker disease CTD_human Mutations of the neurofibromin gene (NF1) cause neurofibromatosis type 1 (NF1), a disease in which learning disabilities are common. 21949590 2010
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.340 GeneticVariation disease BEFREE Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities. 12524206 2003
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.340 GeneticVariation disease BEFREE Mutations in the NF1 gene cause abnormalities in cell growth and differentiation and lead to a variety of learning disabilities. 12403561 2002
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.340 GeneticVariation disease BEFREE Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. 9654211 1998