×
Entrez Id:
1108
Gene Symbol:
CHD4
CHD4
0.300
Biomarker
disease
CTD_human
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
30559488
2019
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
0.300
Biomarker
disease
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
disease
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
disease
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
disease
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
disease
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:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.300
Biomarker
disease
CTD_human
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
27602407
2016
×
Entrez Id:
54187
Gene Symbol:
NANS
NANS
0.300
Biomarker
disease
CTD_human
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
27213289
2016
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
disease
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
disease
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
disease
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
disease
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
disease
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
disease
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
disease
CTD_human
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
20694012
2010
×
Entrez Id:
11284
Gene Symbol:
PNKP
PNKP
0.300
Biomarker
disease
CTD_human
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
20118933
2010
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.300
Biomarker
disease
CTD_human
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
20805988
2010
×
Entrez Id:
55738
Gene Symbol:
ARFGAP1
ARFGAP1
0.300
Biomarker
disease
CTD_human
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
20805988
2010
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.300
Biomarker
disease
CTD_human
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
20805988
2010
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
19321504
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
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
0.300
Biomarker
disease
CTD_human
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
18759867
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.300
Biomarker
disease
CTD_human
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
19559301
2009
×
Entrez Id:
81704
Gene Symbol:
DOCK8
DOCK8
0.300
Biomarker
disease
CTD_human
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
18060736
2008
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.300
Biomarker
disease
CTD_human
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
18614622
2008