CBLL2, Cbl proto-oncogene like 2, 158506

N. diseases: 235; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
0.010 GeneticVariation group BEFREE In this work, we show that the NOD2 signaling partner, RIP2, is directly K63-polyubiquitinated by ITCH, an E3 ubiquitin ligase that when lost genetically causes widespread inflammatory disease at mucosal surfaces. 19592251 2009