Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation BEFREE Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. 28160210

2017
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation BEFREE Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3. 24990152

2014
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation BEFREE Here we show that endothelial-specific disruption of the Ccm1 gene in mice induces EndMT, which contributes to the development of vascular malformations. 23748444

2013
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation BEFREE Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. 15509522

2004