Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE This dominant negative effect translates into dose-dependent altered cognitive behavior of SHANK2-R462X-expressing mice, with an impact on the penetrance of ASD. 21994763 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 GeneticVariation group BEFREE Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. 21994763 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. 21994763 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. 21994763 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.070 GeneticVariation group BEFREE Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. 21994763 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1. 22228009 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 22346768 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 GeneticVariation disease BEFREE Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. 22346768 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 22346768 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 22346768 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. 22503632 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 GeneticVariation group BEFREE Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. 22503632 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. 22699620 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. 22699620 2012
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE Novel oncogenes identified within the 11q13 amplicon including FGF19 and SHANK2 may play important roles in ESCC tumorigenesis. 22761904 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Novel oncogenes identified within the 11q13 amplicon including FGF19 and SHANK2 may play important roles in ESCC tumorigenesis. 22761904 2012
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.100 GeneticVariation phenotype GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.100 GeneticVariation phenotype GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE Co-occurrence of a de novo SHANK2 mutation and a CHRNA7 duplication in two reported patients with ASD and ID as well as in the patient with t(11;17;19), severe ID and behavior problems suggests convergence of these genes on a common synaptic pathway. 23350639 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 GeneticVariation group BEFREE Co-occurrence of a de novo SHANK2 mutation and a CHRNA7 duplication in two reported patients with ASD and ID as well as in the patient with t(11;17;19), severe ID and behavior problems suggests convergence of these genes on a common synaptic pathway. 23350639 2013
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.050 GeneticVariation phenotype BEFREE Co-occurrence of a de novo SHANK2 mutation and a CHRNA7 duplication in two reported patients with ASD and ID as well as in the patient with t(11;17;19), severe ID and behavior problems suggests convergence of these genes on a common synaptic pathway. 23350639 2013
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.010 GeneticVariation group BEFREE Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. 23350639 2013