Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 10973
Gene Symbol: ASCC3
ASCC3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. 11357950

2001
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 767
Gene Symbol: CA8
CA8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950

2001
Entrez Id: 11132
Gene Symbol: CAPN10
CAPN10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 835
Gene Symbol: CASP2
CASP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664

2009
Entrez Id: 890
Gene Symbol: CCNA2
CCNA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.490 Biomarker CTD_human We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H. 30670789

2019
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker CTD_human This suggests that the CALL gene at 3p26.3 is a prime candidate for an autosomal form of mental retardation. 12812975

2003
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114

2017