CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
Disease: Vascular lesions ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.020 GeneticVariation disease BEFREE Cerebral cavernous malformations (CCM) are vascular lesions associated with loss-of-function mutations in one of the three genes encoding KRIT1 (CCM1), CCM2, and PDCD10. 28181149 2017
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.020 GeneticVariation disease BEFREE Here, we show that endothelial-specific Ccm2 deletion at postnatal day 1 (P1) in mice results in vascular lesions mimicking human CCM lesions. 21859843 2011