Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.300 Biomarker disease CTD_human Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. 20098342 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.300 Biomarker disease CTD_human Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. 19921286 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 4909
Gene Symbol: NTF4
NTF4 		0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
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: 10479
Gene Symbol: SLC9A6
SLC9A6 		0.010 GeneticVariation disease BEFREE Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia. 26421989 2015
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: 22941
Gene Symbol: SHANK2
SHANK2 		0.310 Biomarker disease CTD_human Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 20473310 2010
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: 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: 64220
Gene Symbol: STRA6
STRA6 		0.300 Biomarker disease CTD_human Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
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: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.300 Biomarker disease CTD_human Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		0.300 Biomarker disease CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195 2007
Entrez Id: 9901
Gene Symbol: SRGAP3
SRGAP3 		0.300 Biomarker disease CTD_human Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. 21082655 2010
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		0.300 Biomarker disease CTD_human LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 14706454 2004
Entrez Id: 6309
Gene Symbol: SC5D
SC5D 		0.300 Biomarker disease CTD_human Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 12189593 2002
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		0.300 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2 		0.010 GeneticVariation disease BEFREE In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. 31668703 2019