×
Entrez Id:
1183
Gene Symbol:
CLCN4
CLCN4
0.300
Biomarker
disease
CLINGEN
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
27550844
2018
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development.
28445732
2017
×
Entrez Id:
7552
Gene Symbol:
ZNF711
ZNF711
0.300
Biomarker
disease
CLINGEN
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.
28630650
2017
×
Entrez Id:
7552
Gene Symbol:
ZNF711
ZNF711
0.300
Biomarker
disease
CLINGEN
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
27993705
2017
×
Entrez Id:
6855
Gene Symbol:
SYP
SYP
0.300
Biomarker
disease
CLINGEN
Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.
28887151
2017
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
27615324
2017
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.
26587761
2016
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
Return to quiescence of mouse neural stem cells by degradation of a proactivation protein.
27418510
2016
×
Entrez Id:
8905
Gene Symbol:
AP1S2
AP1S2
0.300
Biomarker
disease
CLINGEN
AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway.
27411398
2016
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.300
Biomarker
disease
CLINGEN
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
27222290
2016
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
27130160
2016
×
Entrez Id:
1183
Gene Symbol:
CLCN4
CLCN4
0.300
Biomarker
disease
CLINGEN
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
25644381
2016
×
Entrez Id:
2182
Gene Symbol:
ACSL4
ACSL4
0.300
Biomarker
disease
CLINGEN
Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids.
27656110
2016
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
0.300
Biomarker
disease
CLINGEN
Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.
27007844
2016
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
25652354
2015
×
Entrez Id:
24140
Gene Symbol:
FTSJ1
FTSJ1
0.300
Biomarker
disease
CLINGEN
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.
26310293
2015
×
Entrez Id:
2182
Gene Symbol:
ACSL4
ACSL4
0.300
Biomarker
disease
CLINGEN
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204
2015
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
0.300
Biomarker
disease
CLINGEN
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
0.300
Biomarker
disease
CLINGEN
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204
2015
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.300
Biomarker
disease
CLINGEN
Next-generation sequencing in X-linked intellectual disability.
25649377
2015
×
Entrez Id:
8905
Gene Symbol:
AP1S2
AP1S2
0.300
Biomarker
disease
CLINGEN
Next-generation sequencing in X-linked intellectual disability.
25649377
2015
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
0.300
Biomarker
disease
CLINGEN
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
25131214
2015
×
Entrez Id:
8905
Gene Symbol:
AP1S2
AP1S2
0.300
Biomarker
disease
CLINGEN
AP-1/σ1B-Dependent SV Protein Recycling Is Regulated in Early Endosomes and Is Coupled to AP-2 Endocytosis.
25128028
2015
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
0.300
Biomarker
disease
CLINGEN
Shh signaling protects Atoh1 from degradation mediated by the E3 ubiquitin ligase Huwe1 in neural precursors.
24960692
2014
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.300
Biomarker
disease
CLINGEN
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
24721225
2014