Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development. 28445732

2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review. 26587761

2016
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Return to quiescence of mouse neural stem cells by degradation of a proactivation protein. 27418510

2016
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. 23721686

2013
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. 22840365

2012
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker 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
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein. 18488021

2008