×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.300
Biomarker
phenotype
CTD_human
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
30670789
2019
×
Entrez Id:
8364
Gene Symbol:
H4C3
H4C3
0.300
Biomarker
phenotype
CTD_human
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
28920961
2017
×
Entrez Id:
23152
Gene Symbol:
CIC
CIC
0.300
Biomarker
phenotype
CTD_human
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
28288114
2017
×
Entrez Id:
1630
Gene Symbol:
DCC
DCC
0.300
Biomarker
phenotype
CTD_human
Biallelic mutations in human DCC cause developmental split-brain syndrome.
28250456
2017
×
Entrez Id:
7750
Gene Symbol:
ZMYM2
ZMYM2
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
10274
Gene Symbol:
STAG1
STAG1
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
55023
Gene Symbol:
PHIP
PHIP
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
80155
Gene Symbol:
NAA15
NAA15
0.300
Biomarker
phenotype
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
phenotype
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370
2016
×
Entrez Id:
25942
Gene Symbol:
SIN3A
SIN3A
0.300
Biomarker
phenotype
CTD_human
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
27399968
2016
×
Entrez Id:
84879
Gene Symbol:
MFSD2A
MFSD2A
0.300
Biomarker
phenotype
CTD_human
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
26005865
2015
×
Entrez Id:
57231
Gene Symbol:
SNX14
SNX14
0.300
Biomarker
phenotype
CTD_human
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
25848753
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.300
Biomarker
phenotype
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.300
Biomarker
phenotype
CTD_human
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
×
Entrez Id:
54862
Gene Symbol:
CC2D1A
CC2D1A
0.100
CausalMutation
phenotype
CLINVAR
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.
25066123
2014
×
Entrez Id:
124512
Gene Symbol:
METTL23
METTL23
0.300
Biomarker
phenotype
CTD_human
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
24626631
2014
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
0.300
Biomarker
phenotype
CTD_human
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
24614070
2014
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
0.300
Biomarker
phenotype
CTD_human
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
23825041
2013
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
0.300
Biomarker
phenotype
CTD_human
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
22544367
2012
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
0.300
Biomarker
phenotype
CTD_human
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
22544363
2012
×
Entrez Id:
151
Gene Symbol:
ADRA2B
ADRA2B
0.300
Biomarker
phenotype
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
429
Gene Symbol:
ASCL1
ASCL1
0.300
Biomarker
phenotype
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
374654
Gene Symbol:
KIF7
KIF7
0.300
Biomarker
phenotype
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011