MAPK1, mitogen-activated protein kinase 1, 5594

N. diseases: 1059; N. variants: 13
Disease: Congenital arteriovenous malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.010 Biomarker disease BEFREE Culprit gene mutations typically involve two major signaling pathways; the RAS/MAPK/ERK pathway is typically involved in fast-flow arteriovenous malformations, whereas the PI3K/AKT/mTOR pathway is typically mutated in slow-flow venous and lymphatic malformations. 30922748 2019