NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE A subset of NF1 patients with deletion of the entire NF1 gene has severe learning problems or mental retardation. 11258348 2001
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE The extent of the deletion suggests that the mental retardation and dysmorphism of this patient may result from a deletion involving both the NF1 gene and contiguous genetic material. 1359144 1992