Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. 29728705

2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 AlteredExpression BEFREE Our data thereby uncover a key function for RNF12 E3 ubiquitin ligase activity in stem cell and neural development and identify mechanisms by which this is disrupted in intellectual disability. 29742418

2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation BEFREE We recently reported that duplication of the E3 ubiquitin ligase HUWE1 results in intellectual disability (ID) in male patients. 24303071

2013
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 Biomarker BEFREE Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223

2008