×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.410
Biomarker
group
CTD_human
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.410
Biomarker
group
CTD_human
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
19321504
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.410
Biomarker
group
CTD_human
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
18759867
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.380
Biomarker
group
CTD_human
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
19559301
2009
×
Entrez Id:
9739
Gene Symbol:
SETD1A
SETD1A
0.320
Biomarker
group
GENOMICS_ENGLAND
We further identified four SETD1A LoF carriers among 4,281 children with severe developmental disorders and two more carriers in an independent sample of 5,720 Finnish exomes, both with notable neuropsychiatric phenotypes.
26974950
2016
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.320
Biomarker
group
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
×
Entrez Id:
81704
Gene Symbol:
DOCK8
DOCK8
0.310
Biomarker
group
CTD_human
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities .
18060736
2008
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
0.310
Biomarker
group
CTD_human
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
11326334
2001
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
0.300
Biomarker
group
CTD_human
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
30559488
2019
×
Entrez Id:
57705
Gene Symbol:
WDFY4
WDFY4
0.300
Biomarker
group
CTD_human
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
30559488
2019
×
Entrez Id:
5595
Gene Symbol:
MAPK3
MAPK3
0.300
Biomarker
group
CTD_human
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
30559488
2019
×
Entrez Id:
1108
Gene Symbol:
CHD4
CHD4
0.300
Biomarker
group
CTD_human
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
30559488
2019
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
0.300
Biomarker
group
CTD_human
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
30224647
2018
×
Entrez Id:
57412
Gene Symbol:
AS3MT
AS3MT
0.300
Biomarker
group
CTD_human
Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan.
28235556
2017
×
Entrez Id:
54187
Gene Symbol:
NANS
NANS
0.300
Biomarker
group
CTD_human
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
27213289
2016
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.300
Biomarker
group
CTD_human
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
27602407
2016
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
group
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370
2016
×
Entrez Id:
79823
Gene Symbol:
CAMKMT
CAMKMT
0.300
Biomarker
group
CTD_human
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.
26247364
2015
×
Entrez Id:
10617
Gene Symbol:
STAMBP
STAMBP
0.300
Biomarker
group
CTD_human
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
23542699
2013
×
Entrez Id:
9197
Gene Symbol:
SLC33A1
SLC33A1
0.300
Biomarker
group
CTD_human
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
22243965
2012
×
Entrez Id:
57582
Gene Symbol:
KCNT1
KCNT1
0.300
Biomarker
group
CTD_human
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
23086397
2012
×
Entrez Id:
1813
Gene Symbol:
DRD2
DRD2
0.300
Biomarker
group
CTD_human
A dopamine receptor (DRD2) but not dopamine transporter (DAT1) gene polymorphism is associated with neurocognitive development of Mexican preschool children with lead exposure.
21592505
2011
×
Entrez Id:
867
Gene Symbol:
CBL
CBL
0.300
Biomarker
group
CTD_human
We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML).
20694012
2010
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.300
Biomarker
group
CTD_human
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
20805988
2010
×
Entrez Id:
11284
Gene Symbol:
PNKP
PNKP
0.300
Biomarker
group
CTD_human
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
20118933
2010