×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
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
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
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
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
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
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
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
Intellectual Disability
0.600
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
7528
Gene Symbol:
YY1
YY1
Intellectual Disability
0.600
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
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
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
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
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
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
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
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
Intellectual Disability
0.500
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
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
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
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
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
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
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
Intellectual Disability
0.480
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
2904
Gene Symbol:
GRIN2B
GRIN2B
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