NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 GeneticVariation disease BEFREE Here, we focused on the ring finger protein 135 (RNF135) gene, encoding an E3 ubiquitin ligase expressed in the cortex and cerebellum, and located in the NF1 gene locus in 17q11.2, a region linked to autism. 26368817 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 GeneticVariation disease BEFREE Allele 5 of a tetranucleotide polymorphism in an Alu element (GXAlu) localized in intron 27b of the NF1 gene has previously been associated with autism. 21236316 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 Biomarker disease CTD_human This suggests a role of the NF1 gene in the development of autism. 15389774 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 Biomarker disease BEFREE This suggests a role of the NF1 gene in the development of autism. 15389774 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 GeneticVariation disease BEFREE Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism. 11449390 2001
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.350 GeneticVariation disease BEFREE Association study of the NF1 gene and autistic disorder. 10581497 1999