|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.300 |
Biomarker
|
disease |
CTD_human |
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
|
17275665 |
2007 |
|
| 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 |
|
| 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: |
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: |
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: |
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: |
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: |
6513 |
| Gene Symbol: |
SLC2A1 |
SLC2A1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |
|
| 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: |
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: |
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: |
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: |
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: |
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: |
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 |
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
|
11603379 |
2001 |
|
| 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: |
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: |
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: |
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: |
6535 |
| Gene Symbol: |
SLC6A8 |
SLC6A8
|
0.300 |
Biomarker
|
disease |
CTD_human |
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
|
11326334 |
2001 |
|
| 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: |
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: |
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 |