×
Entrez Id:
84148
Gene Symbol:
KAT8
KAT8
0.300
Biomarker
disease
GENOMICS_ENGLAND
Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism , dysmorphisms, and other anomalies.
31794431
2020
×
Entrez Id:
28514
Gene Symbol:
DLL1
DLL1
0.300
Biomarker
disease
GENOMICS_ENGLAND
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
31353024
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:
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:
55904
Gene Symbol:
KMT2E
KMT2E
0.300
Biomarker
disease
GENOMICS_ENGLAND
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
31079897
2019
×
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:
26523
Gene Symbol:
AGO1
AGO1
0.300
Biomarker
disease
GENOMICS_ENGLAND
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
29346770
2018
×
Entrez Id:
23036
Gene Symbol:
ZNF292
ZNF292
0.300
Biomarker
disease
GENOMICS_ENGLAND
We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292 , AKIRIN2 and EPHA7).
29904178
2018
×
Entrez Id:
9820
Gene Symbol:
CUL7
CUL7
0.300
Biomarker
disease
CTD_human
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.300
Biomarker
disease
CTD_human
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
349075
Gene Symbol:
ZNF713
ZNF713
0.300
Biomarker
disease
GENOMICS_ENGLAND
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
25196122
2014
×
Entrez Id:
5329
Gene Symbol:
PLAUR
PLAUR
0.300
Biomarker
disease
CTD_human
The autism risk genes MET and PLAUR differentially impact cortical development.
21328570
2011
×
Entrez Id:
407010
Gene Symbol:
MIR23A
MIR23A
0.300
Biomarker
disease
CTD_human
Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.
20374639
2010
×
Entrez Id:
11281
Gene Symbol:
POU6F2
POU6F2
0.300
Biomarker
disease
CTD_human
A genome-wide scan for common alleles affecting risk for autism.
20663923
2010
×
Entrez Id:
8930
Gene Symbol:
MBD4
MBD4
0.300
Biomarker
disease
CTD_human
We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4 .
19921286
2010
×
Entrez Id:
406900
Gene Symbol:
MIR106B
MIR106B
0.300
Biomarker
disease
CTD_human
Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.
20374639
2010
×
Entrez Id:
200150
Gene Symbol:
PLD5
PLD5
0.300
Biomarker
disease
CTD_human
A genome-wide scan for common alleles affecting risk for autism.
20663923
2010
×
Entrez Id:
53615
Gene Symbol:
MBD3
MBD3
0.300
Biomarker
disease
CTD_human
We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3 , and MBD4.
19921286
2010
×
Entrez Id:
3002
Gene Symbol:
GZMB
GZMB
0.300
Biomarker
disease
CTD_human
Altered gene expression and function of peripheral blood natural killer cells in children with autism.
18762240
2009
×
Entrez Id:
3352
Gene Symbol:
HTR1D
HTR1D
0.300
Biomarker
disease
CTD_human
HTR1B and HTR2C in autism spectrum disorders in Brazilian families.
19038234
2009
×
Entrez Id:
3351
Gene Symbol:
HTR1B
HTR1B
0.300
Biomarker
disease
CTD_human
HTR1B and HTR2C in autism spectrum disorders in Brazilian families.
19038234
2009
×
Entrez Id:
23245
Gene Symbol:
ASTN2
ASTN2
0.300
Biomarker
disease
CTD_human
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
19404257
2009
×
Entrez Id:
2555
Gene Symbol:
GABRA2
GABRA2
0.300
Biomarker
disease
CTD_human
GABA(A) receptor downregulation in brains of subjects with autism.
18821008
2009
×
Entrez Id:
64326
Gene Symbol:
COP1
COP1
0.300
Biomarker
disease
CTD_human
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
19404257
2009
×
Entrez Id:
51733
Gene Symbol:
UPB1
UPB1
0.300
Biomarker
disease
CTD_human
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
18853477
2009