RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Disease: Port-Wine Stain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.410 Biomarker disease BEFREE RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). 24038909 2013
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.410 Biomarker disease CTD_human Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.410 Biomarker disease HPO