Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.300 Biomarker phenotype CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2016
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.300 Biomarker phenotype CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.300 Biomarker phenotype 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 phenotype 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 phenotype 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 phenotype 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 phenotype CTD_human Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.300 Biomarker phenotype CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism. 21310003 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.300 Biomarker phenotype CTD_human Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. 21082657 2010
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.300 Biomarker phenotype 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 phenotype 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 phenotype CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997