Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability. 30843029 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE Contactin associated protein-like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ). 29610457 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features. 30586385 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE However, NMDAR antibodies (n=4) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR/DPD)) compared with 9/176 (5.1%) of the remaining mother (p<0.001). 28572274 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. 26843181 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. 27439707 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism. 25918374 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment. 23714751 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group HPO