×
Entrez Id:
116115
Gene Symbol:
ZNF526
ZNF526
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
7750
Gene Symbol:
ZMYM2
ZMYM2
0.300
Biomarker
disease
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
55596
Gene Symbol:
ZCCHC8
ZCCHC8
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
9923
Gene Symbol:
ZBTB40
ZBTB40
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
7528
Gene Symbol:
YY1
YY1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
284403
Gene Symbol:
WDR62
WDR62
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
56270
Gene Symbol:
WDR45B
WDR45B
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
8936
Gene Symbol:
WASF1
WASF1
0.010
GeneticVariation
disease
BEFREE
Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1 ) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures.
29961568
2018
×
Entrez Id:
7443
Gene Symbol:
VRK1
VRK1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
7432
Gene Symbol:
VIP
VIP
0.300
Biomarker
disease
CTD_human
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.
11357950
2001
×
Entrez Id:
131669
Gene Symbol:
UROC1
UROC1
0.300
Biomarker
disease
CTD_human
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
19304569
2009
×
Entrez Id:
55148
Gene Symbol:
UBR7
UBR7
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.010
Biomarker
disease
BEFREE
βIV Spectrinopathies Cause Profound Intellectual Disability , Congenital Hypotonia, and Motor Axonal Neuropathy.
29861105
2018
×
Entrez Id:
80185
Gene Symbol:
TTI2
TTI2
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
283989
Gene Symbol:
TSEN54
TSEN54
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
79042
Gene Symbol:
TSEN34
TSEN34
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
80746
Gene Symbol:
TSEN2
TSEN2
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
55621
Gene Symbol:
TRMT1
TRMT1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
65084
Gene Symbol:
TMEM135
TMEM135
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
54499
Gene Symbol:
TMCO1
TMCO1
0.300
Biomarker
disease
CTD_human
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
20018682
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
disease
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370
2016
×
Entrez Id:
6873
Gene Symbol:
TAF2
TAF2
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011