Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.310 Biomarker group CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.310 Biomarker group CTD_human Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. 21082657 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.310 Biomarker group CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.310 Biomarker group CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.310 GeneticVariation group BEFREE Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. 19896112 2009
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.310 Biomarker group BEFREE Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. 19896112 2009
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
0.300 Biomarker group CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2017
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
0.300 Biomarker group CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.300 Biomarker group CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
0.300 Biomarker group CTD_human Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.300 Biomarker group CTD_human Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
0.300 Biomarker group CTD_human GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
0.300 Biomarker group CTD_human Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665 2012
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.300 Biomarker group CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.300 Biomarker group CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.300 Biomarker group CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997
Entrez Id: 27328
Gene Symbol: PCDH11X
PCDH11X
0.010 GeneticVariation group BEFREE Recently, a genetic mutation of protocadherin-11X/Y was reported to be associated with a language development disorder. 23527036 2013