×
Entrez Id:
84320
Gene Symbol:
ACBD6
ACBD6
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
132
Gene Symbol:
ADK
ADK
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
151
Gene Symbol:
ADRA2B
ADRA2B
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
186
Gene Symbol:
AGTR2
AGTR2
0.010
GeneticVariation
disease
BEFREE
The patients with AGTR2 sequence variants had severe/profound mental retardation , epileptic seizures, restlessness, hyperactivity, and disturbed development of speech.
14598163
2004
×
Entrez Id:
54806
Gene Symbol:
AHI1
AHI1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
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:
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:
23431
Gene Symbol:
AP4E1
AP4E1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
9179
Gene Symbol:
AP4M1
AP4M1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
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:
120534
Gene Symbol:
ARL14EP
ARL14EP
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
10973
Gene Symbol:
ASCC3
ASCC3
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
429
Gene Symbol:
ASCL1
ASCL1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
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:
627
Gene Symbol:
BDNF
BDNF
0.300
Biomarker
disease
CTD_human
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.
11357950
2001
×
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
C12orf57
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
767
Gene Symbol:
CA8
CA8
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
8913
Gene Symbol:
CACNA1G
CACNA1G
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
796
Gene Symbol:
CALCA
CALCA
0.300
Biomarker
disease
CTD_human
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.
11357950
2001
×
Entrez Id:
11132
Gene Symbol:
CAPN10
CAPN10
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
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:
147372
Gene Symbol:
CCBE1
CCBE1
0.300
Biomarker
disease
CTD_human
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
19935664
2009
×
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:
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