Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.310 GeneticVariation disease BEFREE The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (SLC6A4) and the brain-derived neurotrophic factor gene (BDNF), are associated with mental deficiency (MD). 20175892 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 Biomarker disease CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 Biomarker disease CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 Biomarker disease CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 Biomarker disease CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.310 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.310 GeneticVariation disease BEFREE Mutations of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a protein and lipid phosphatase, have been associated with gliomas, macrocephaly, and mental deficiencies. 10662831 2000
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.300 Biomarker disease 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 disease 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 disease CTD_human Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 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: 80155
Gene Symbol: NAA15
NAA15 		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: 1630
Gene Symbol: DCC
DCC 		0.300 Biomarker disease CTD_human Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
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: 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: 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: 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: 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: 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: 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