×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
0.010
GeneticVariation
disease
BEFREE
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability .
30181650
2018
×
Entrez Id:
22941
Gene Symbol:
SHANK2
SHANK2
0.310
GeneticVariation
disease
BEFREE
Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability .
25188300
2014
×
Entrez Id:
50944
Gene Symbol:
SHANK1
SHANK1
0.010
GeneticVariation
disease
BEFREE
Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability .
25188300
2014
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.320
GeneticVariation
disease
BEFREE
Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability .
25188300
2014
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.300
Biomarker
disease
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.300
Biomarker
disease
CTD_human
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
×
Entrez Id:
81704
Gene Symbol:
DOCK8
DOCK8
0.300
Biomarker
disease
CTD_human
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
18060736
2008
×
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:
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:
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:
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:
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:
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:
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:
5190
Gene Symbol:
PEX6
PEX6
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
10256
Gene Symbol:
CNKSR1
CNKSR1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
2348
Gene Symbol:
FOLR1
FOLR1
0.300
Biomarker
disease
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011