Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 142
Gene Symbol: PARP1
PARP1
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011