Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.320 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
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: 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: 9378
Gene Symbol: NRXN1
NRXN1 		0.300 Biomarker disease CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082 2008
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8 		0.300 Biomarker disease CTD_human Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. 18060736 2008
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: 57282
Gene Symbol: SLC4A10
SLC4A10 		0.300 Biomarker disease CTD_human Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. 18413482 2008
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.300 Biomarker disease CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
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: 6792
Gene Symbol: CDKL5
CDKL5 		0.010 GeneticVariation disease BEFREE This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. 18809835 2008
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 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: 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: 4669
Gene Symbol: NAGLU
NAGLU 		0.310 Biomarker disease BEFREE Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. 19416848 2009
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: 10743
Gene Symbol: RAI1
RAI1 		0.300 Biomarker disease CTD_human Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 19752160 2010
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: 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: 27185
Gene Symbol: DISC1
DISC1 		0.300 Biomarker disease CTD_human DISC1 duplication in two brothers with autism and mild mental retardation. 20002455 2010
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		0.300 Biomarker disease CTD_human Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 20018682 2010
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: 4208
Gene Symbol: MEF2C
MEF2C 		0.300 Biomarker disease CTD_human Refining the phenotype associated with MEF2C haploinsufficiency. 20412115 2010