Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.300 Biomarker phenotype CTD_human Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. 19304569 2009
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.300 Biomarker phenotype 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: 142
Gene Symbol: PARP1
PARP1 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.300 Biomarker phenotype CTD_human Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.300 Biomarker phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1 		0.300 Biomarker phenotype 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: 79042
Gene Symbol: TSEN34
TSEN34 		0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
Entrez Id: 23152
Gene Symbol: CIC
CIC 		0.300 Biomarker phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 7528
Gene Symbol: YY1
YY1 		0.300 Biomarker phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker phenotype CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.300 Biomarker phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 324
Gene Symbol: APC
APC 		0.300 Biomarker phenotype CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957 1994
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.300 Biomarker phenotype CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 3631
Gene Symbol: INPP4A
INPP4A 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 10129
Gene Symbol: FRY
FRY 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.300 Biomarker phenotype CTD_human Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011