×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.300
Biomarker
phenotype
CTD_human
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
18057082
2008
×
Entrez Id:
81704
Gene Symbol:
DOCK8
DOCK8
0.300
Biomarker
phenotype
CTD_human
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
18060736
2008
×
Entrez Id:
5080
Gene Symbol:
PAX6
PAX6
0.300
Biomarker
phenotype
CTD_human
Pax6 3' deletion results in aniridia, autism and mental retardation.
18322702
2008
×
Entrez Id:
57282
Gene Symbol:
SLC4A10
SLC4A10
0.300
Biomarker
phenotype
CTD_human
Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.
18413482
2008
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.300
Biomarker
phenotype
CTD_human
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
18627055
2008
×
Entrez Id:
79042
Gene Symbol:
TSEN34
TSEN34
0.300
Biomarker
phenotype
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
283989
Gene Symbol:
TSEN54
TSEN54
0.300
Biomarker
phenotype
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
80746
Gene Symbol:
TSEN2
TSEN2
0.300
Biomarker
phenotype
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
phenotype
CTD_human
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
18759867
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
phenotype
CTD_human
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
×
Entrez Id:
131669
Gene Symbol:
UROC1
UROC1
0.300
Biomarker
phenotype
CTD_human
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
19304569
2009
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
0.300
Biomarker
phenotype
CTD_human
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
19668215
2009
×
Entrez Id:
10743
Gene Symbol:
RAI1
RAI1
0.300
Biomarker
phenotype
CTD_human
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
19752160
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.300
Biomarker
phenotype
CTD_human
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
19921286
2010
×
Entrez Id:
147372
Gene Symbol:
CCBE1
CCBE1
0.300
Biomarker
phenotype
CTD_human
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
19935664
2009
×
Entrez Id:
27185
Gene Symbol:
DISC1
DISC1
0.300
Biomarker
phenotype
CTD_human
DISC1 duplication in two brothers with autism and mild mental retardation.
20002455
2010
×
Entrez Id:
54499
Gene Symbol:
TMCO1
TMCO1
0.300
Biomarker
phenotype
CTD_human
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
20018682
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.300
Biomarker
phenotype
CTD_human
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
20098342
2010
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
0.300
Biomarker
phenotype
CTD_human
Refining the phenotype associated with MEF2C haploinsufficiency.
20412115
2010
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
0.300
Biomarker
phenotype
CTD_human
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
20425835
2010
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.300
Biomarker
phenotype
CTD_human
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
×
Entrez Id:
22941
Gene Symbol:
SHANK2
SHANK2
0.300
Biomarker
phenotype
CTD_human
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
20473310
2010
×
Entrez Id:
9759
Gene Symbol:
HDAC4
HDAC4
0.300
Biomarker
phenotype
CTD_human
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
20691407
2010
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
0.300
Biomarker
phenotype
CTD_human
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
20844286
2010
×
Entrez Id:
2904
Gene Symbol:
GRIN2B
GRIN2B
0.300
Biomarker
phenotype
CTD_human
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
20890276
2010