RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. 27081547 2015
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 GeneticVariation disease UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 Biomarker disease GENOMICS_ENGLAND Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. 22342634 2012
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 Biomarker disease GENOMICS_ENGLAND Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 GeneticVariation disease UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 CausalMutation disease CLINVAR
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.600 Biomarker disease GENOMICS_ENGLAND