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 Biomarker disease MGD
CUI: C3150693
Disease: AUTISM, SUSCEPTIBILITY TO, 17
AUTISM, SUSCEPTIBILITY TO, 17 		0.400 CausalMutation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. 12065602 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE Recurrent coamplification of cytoskeleton-associated genes EMS1 and SHANK2 with CCND1 in oral squamous cell carcinoma. 16235239 2006
CUI: C0017638
Disease: Glioma
Glioma 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. 20473310 2010
CUI: C3150693
Disease: AUTISM, SUSCEPTIBILITY TO, 17
AUTISM, SUSCEPTIBILITY TO, 17 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 GeneticVariation group BEFREE DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. 20473310 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 Biomarker group CTD_human DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. 20473310 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.310 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.070 GeneticVariation group BEFREE Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. 20473310 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.390 GeneticVariation group BEFREE A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. 20502490 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 GeneticVariation disease BEFREE A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. 20502490 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. 20502490 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.060 GeneticVariation disease BEFREE The present study queries whether common SHANK variants may also contribute to neuropsychological dysfunctions in schizophrenia. 21901269 2012