Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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