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 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.320 GeneticVariation disease BEFREE Deletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD). 26489495 2015
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: 22941
Gene Symbol: SHANK2
SHANK2 		0.310 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		0.310 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 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: 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: 6334
Gene Symbol: SCN8A
SCN8A 		0.300 Biomarker disease CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810 2006
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: 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: 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: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
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: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
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
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: 5927
Gene Symbol: KDM5A
KDM5A 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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