×
Entrez Id:
2558
Gene Symbol:
GABRA5
GABRA5
0.300
Biomarker
disease
CTD_human
α5GABAA receptor deficiency causes autism-like behaviors.
27231709
2016
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.100
Biomarker
disease
HPO
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.100
Biomarker
disease
HPO
×
Entrez Id:
27429
Gene Symbol:
HTRA2
HTRA2
0.100
Biomarker
disease
HPO
×
Entrez Id:
9829
Gene Symbol:
DNAJC6
DNAJC6
0.100
Biomarker
disease
HPO
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
0.100
Biomarker
disease
HPO
×
Entrez Id:
23394
Gene Symbol:
ADNP
ADNP
0.100
Biomarker
disease
HPO
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.100
Biomarker
disease
HPO
×
Entrez Id:
9968
Gene Symbol:
MED12
MED12
0.100
Biomarker
disease
HPO
×
Entrez Id:
54832
Gene Symbol:
VPS13C
VPS13C
0.100
Biomarker
disease
HPO
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.100
Biomarker
disease
HPO
×
Entrez Id:
26047
Gene Symbol:
CNTNAP2
CNTNAP2
0.100
Biomarker
disease
HPO
×
Entrez Id:
120892
Gene Symbol:
LRRK2
LRRK2
0.100
Biomarker
disease
HPO
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
0.100
Biomarker
disease
HPO
×
Entrez Id:
440138
Gene Symbol:
ALG11
ALG11
0.100
Biomarker
disease
HPO
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7345
Gene Symbol:
UCHL1
UCHL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
138050
Gene Symbol:
HGSNAT
HGSNAT
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
11315
Gene Symbol:
PARK7
PARK7
0.100
Biomarker
disease
HPO
×
Entrez Id:
5420
Gene Symbol:
PODXL
PODXL
0.100
Biomarker
disease
HPO
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
0.100
Biomarker
disease
HPO
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.030
Biomarker
disease
BEFREE
Our results revealed that haploinsufficiency of SHANK3 causes a broad spectrum of neurodevelopmental phenotypes with impaired social interaction , repetitive behavior, speech impairment, ID, and regression as the most common observations.
30537371
2018
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
0.030
GeneticVariation
disease
BEFREE
Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors.
22749736
2013