Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 8290
Gene Symbol: H3-4
H3-4 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 142
Gene Symbol: PARP1
PARP1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 5190
Gene Symbol: PEX6
PEX6 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 10256
Gene Symbol: CNKSR1
CNKSR1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 55596
Gene Symbol: ZCCHC8
ZCCHC8 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011