Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082

2008
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation. 18060736

2008
Entrez Id: 57282
Gene Symbol: SLC4A10
SLC4A10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. 18413482

2008
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.510 Biomarker CTD_human This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. 19304569

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
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: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215

2009
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR). 20098342

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. 19921286

2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.480 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker CTD_human Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. 20890276

2010
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker CTD_human Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. 20844286

2010
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker CTD_human Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 20018682

2010
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker CTD_human Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker CTD_human Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. 19752160

2010
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