×
Entrez Id:
128408
Gene Symbol:
BHLHE23
BHLHE23
0.010
Biomarker
disease
BEFREE
βIV Spectrinopathies Cause Profound Intellectual Disability , Congenital Hypotonia, and Motor Axonal Neuropathy.
29861105
2018
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.010
Biomarker
disease
BEFREE
βIV Spectrinopathies Cause Profound Intellectual Disability , Congenital Hypotonia, and Motor Axonal Neuropathy.
29861105
2018
×
Entrez Id:
10717
Gene Symbol:
AP4B1
AP4B1
0.010
Biomarker
disease
BEFREE
βIV Spectrinopathies Cause Profound Intellectual Disability , Congenital Hypotonia, and Motor Axonal Neuropathy.
29861105
2018
×
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:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
116442
Gene Symbol:
RAB39B
RAB39B
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
7528
Gene Symbol:
YY1
YY1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
23152
Gene Symbol:
CIC
CIC
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.300
Biomarker
disease
CTD_human
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
30670789
2019
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.300
Biomarker
disease
CTD_human
A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
21236316
2011
×
Entrez Id:
952
Gene Symbol:
CD38
CD38
0.010
Biomarker
disease
BEFREE
A girl with a 46,X,t(X ;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease.
9788559
1998
×
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:
84879
Gene Symbol:
MFSD2A
MFSD2A
0.300
Biomarker
disease
CTD_human
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
26005865
2015
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.300
Biomarker
disease
CTD_human
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
18057082
2008
×
Entrez Id:
4163
Gene Symbol:
MCC
MCC
0.300
Biomarker
disease
CTD_human
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
8071957
1994
×
Entrez Id:
324
Gene Symbol:
APC
APC
0.300
Biomarker
disease
CTD_human
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
8071957
1994
×
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
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
14574156
2003
×
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:
57231
Gene Symbol:
SNX14
SNX14
0.300
Biomarker
disease
CTD_human
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
25848753
2015
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
disease
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370
2016
×
Entrez Id:
10752
Gene Symbol:
CHL1
CHL1
0.300
Biomarker
disease
CTD_human
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
12812975
2003