|
| 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: |
93986 |
| Gene Symbol: |
FOXP2 |
FOXP2
|
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: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
|
25217958 |
2014 |
|
| 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 |
|
| 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: |
9378 |
| Gene Symbol: |
NRXN1 |
NRXN1
|
0.300 |
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
|
0.300 |
Biomarker
|
disease |
CTD_human |
CNTNAP2 variants affect early language development in the general population.
|
21310003 |
2011 |
|
| Entrez Id: |
26047 |
| Gene Symbol: |
CNTNAP2 |
CNTNAP2
|
0.300 |
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: |
1806 |
| Gene Symbol: |
DPYD |
DPYD
|
0.300 |
Biomarker
|
disease |
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
|
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: |
85358 |
| Gene Symbol: |
SHANK3 |
SHANK3
|
0.300 |
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
|
0.300 |
Biomarker
|
disease |
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
|
disease |
CTD_human |
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
|
9286463 |
1997 |