×
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:
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:
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:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.300
Biomarker
disease
CTD_human
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
11603379
2001
×
Entrez Id:
152330
Gene Symbol:
CNTN4
CNTN4
0.300
Biomarker
disease
CTD_human
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
15106122
2004
×
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:
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:
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:
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:
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
×
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:
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
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
19321504
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:
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:
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:
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:
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:
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:
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:
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