×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.400
Biomarker
disease
CTD_human
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
9286463
1997
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.330
Biomarker
disease
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
0.330
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
×
Entrez Id:
1806
Gene Symbol:
DPYD
DPYD
0.320
Biomarker
disease
CTD_human
Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.
21114665
2011
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.320
Biomarker
disease
CTD_human
Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility.
20157312
2011
×
Entrez Id:
93986
Gene Symbol:
FOXP2
FOXP2
0.310
Biomarker
disease
CTD_human
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.
27120335
2016
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.310
Biomarker
disease
CTD_human
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
×
Entrez Id:
26047
Gene Symbol:
CNTNAP2
CNTNAP2
0.310
Biomarker
disease
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
disease
CTD_human
CNTNAP2 variants affect early language development in the general population.
21310003
2011
×
Entrez Id:
26047
Gene Symbol:
CNTNAP2
CNTNAP2
0.310
Biomarker
disease
CTD_human
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.
21082657
2010
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
0.300
Biomarker
disease
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
disease
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
2077
Gene Symbol:
ERF
ERF
0.300
Biomarker
disease
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
disease
CTD_human
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
23933820
2013