Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 132
Gene Symbol: ADK
ADK
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 54806
Gene Symbol: AHI1
AHI1
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 23431
Gene Symbol: AP4E1
AP4E1
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 120534
Gene Symbol: ARL14EP
ARL14EP
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 10973
Gene Symbol: ASCC3
ASCC3
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
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: 55212
Gene Symbol: BBS7
BBS7
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.300 Biomarker phenotype CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 767
Gene Symbol: CA8
CA8
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.300 Biomarker phenotype CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 11132
Gene Symbol: CAPN10
CAPN10
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 835
Gene Symbol: CASP2
CASP2
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A
0.100 CausalMutation phenotype CLINVAR CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. 25066123 2014
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
0.300 Biomarker phenotype CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
Entrez Id: 890
Gene Symbol: CCNA2
CCNA2
0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.300 Biomarker phenotype 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 phenotype 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 phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010