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: |
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: |
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: |
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: |
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: |
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: |
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: |
4915 |
Gene Symbol: |
NTRK2 |
NTRK2
|
0.300 |
Biomarker
|
disease |
CTD_human |
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
|
15494731 |
2004 |
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: |
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: |
6513 |
Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.300 |
Biomarker
|
disease |
CTD_human |
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
|
9462754 |
1998 |
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: |
6513 |
Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
|
11603379 |
2001 |
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: |
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: |
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: |
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: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
0.300 |
Biomarker
|
disease |
CTD_human |
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
|
18759867 |
2009 |
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: |
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: |
4036 |
Gene Symbol: |
LRP2 |
LRP2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
|
17632512 |
2007 |
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: |
6513 |
Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |