Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.300 Biomarker disease 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 disease 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 disease 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 disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
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: 23152
Gene Symbol: CIC
CIC 		0.300 Biomarker disease CTD_human Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.300 Biomarker disease 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: 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: 84879
Gene Symbol: MFSD2A
MFSD2A 		0.300 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.300 Biomarker disease CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		0.300 Biomarker disease CTD_human Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 25848753 2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		0.300 Biomarker disease CTD_human Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
Entrez Id: 124512
Gene Symbol: METTL23
METTL23 		0.300 Biomarker disease 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 disease 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 disease 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 disease CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.300 Biomarker disease CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
Entrez Id: 835
Gene Symbol: CASP2
CASP2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 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: 23135
Gene Symbol: KDM6B
KDM6B 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 890
Gene Symbol: CCNA2
CCNA2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 2194
Gene Symbol: FASN
FASN 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55180
Gene Symbol: LINS1
LINS1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011