Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 10752
Gene Symbol: CHL1
CHL1 		0.300 Biomarker disease CTD_human CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. 12812975 2003
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: 23152
Gene Symbol: CIC
CIC 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1 		0.300 Biomarker disease CTD_human Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 4673339 1972
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1 		0.300 Biomarker disease CTD_human Serum carnosinase deficiency concomitant with mental retardation. 4718759 1973
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: 80781
Gene Symbol: COL18A1
COL18A1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 84274
Gene Symbol: COQ5
COQ5 		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: 10522
Gene Symbol: DEAF1
DEAF1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
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: 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: 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: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 1933
Gene Symbol: EEF1B2
EEF1B2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55250
Gene Symbol: ELP2
ELP2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 953
Gene Symbol: ENTPD1
ENTPD1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 7430
Gene Symbol: EZR
EZR 		0.010 GeneticVariation disease BEFREE Homozygosity mapping and exome sequencing have now revealed the first presumably disease-causing variant in the coding gene EZR in two siblings with a profound intellectual disability. 25504542 2015
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A 		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: 2332
Gene Symbol: FMR1
FMR1 		0.300 Biomarker disease CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010