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 		0.120 GeneticVariation disease BEFREE Intriguingly, mutations in an NMD factor, Upf3b, have been found in patients with autism [2, 3]. 23638902 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation disease CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 GeneticVariation disease BEFREE We also identify comorbidity of MR and autism in another family with UPF3B mutation. 19238151 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation disease CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 CausalMutation disease CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778 2007