Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.670 Biomarker 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: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.650 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

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: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030

2005

Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.550 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.520 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

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: 6309
Gene Symbol: SC5D
SC5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker CTD_human Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 12189593

2002

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: 7054
Gene Symbol: TH
TH
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: 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: 5080
Gene Symbol: PAX6
PAX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702

2008

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006

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: 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: 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