Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability. 24303071 2013
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. 23721686 2013
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. 22840365 2012
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. 23092983 2012
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum. 20231446 2010
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain. 19686682 2009
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223 2008
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.300 Biomarker disease CLINGEN The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein. 18488021 2008