KRIT1, KRIT1 ankyrin repeat containing, 889

N. diseases: 201; N. variants: 43
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 		0.030 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 		0.030 Biomarker disease BEFREE Inhibitors of the TGF-β and BMP pathway prevent EndMT both in vitro and in vivo and reduce the number and size of vascular lesions in CCM1-deficient mice. 23748444 2013
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.030 GeneticVariation disease BEFREE Our findings suggest that mutations in the KRIT1 gene may cause phenotypically heterogeneous cutaneous vascular lesions other than those previously described as HCCVMs. 19182478 2009