×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.320
Biomarker
disease
CTD_human
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
16284256
2006
×
Entrez Id:
4669
Gene Symbol:
NAGLU
NAGLU
0.310
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
4669
Gene Symbol:
NAGLU
NAGLU
0.310
Biomarker
disease
BEFREE
Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B ) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia.
19416848
2009
×
Entrez Id:
22941
Gene Symbol:
SHANK2
SHANK2
0.310
Biomarker
disease
CTD_human
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
20473310
2010
×
Entrez Id:
835
Gene Symbol:
CASP2
CASP2
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
116115
Gene Symbol:
ZNF526
ZNF526
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.300
Biomarker
disease
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:
2290
Gene Symbol:
FOXG1
FOXG1
0.300
Biomarker
disease
CTD_human
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
18627055
2008
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
0.300
Biomarker
disease
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:
56270
Gene Symbol:
WDR45B
WDR45B
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
23135
Gene Symbol:
KDM6B
KDM6B
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
890
Gene Symbol:
CCNA2
CCNA2
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
2194
Gene Symbol:
FASN
FASN
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.300
Biomarker
disease
CTD_human
Syndromic craniosynostosis with elbow joint contracture.
16465081
2006
×
Entrez Id:
55180
Gene Symbol:
LINS1
LINS1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
55212
Gene Symbol:
BBS7
BBS7
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
1630
Gene Symbol:
DCC
DCC
0.300
Biomarker
disease
CTD_human
Biallelic mutations in human DCC cause developmental split-brain syndrome.
28250456
2017
×
Entrez Id:
5927
Gene Symbol:
KDM5A
KDM5A
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
11253
Gene Symbol:
MAN1B1
MAN1B1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
79644
Gene Symbol:
SRD5A3
SRD5A3
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.300
Biomarker
disease
CTD_human
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
×
Entrez Id:
8290
Gene Symbol:
H3-4
H3-4
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
142
Gene Symbol:
PARP1
PARP1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
10743
Gene Symbol:
RAI1
RAI1
0.300
Biomarker
disease
CTD_human
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
19752160
2010