Gene: CBLL2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		0.040 GeneticVariation group 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 		0.040 AlteredExpression group 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 		0.040 GeneticVariation group 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 		0.040 Biomarker group BEFREE Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223 2008