CCNH, cyclin H, 902

N. diseases: 83; N. variants: 37
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 CausalMutation disease CLINVAR RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. 29120072 2018
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 CausalMutation disease CLINVAR A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. 26499346 2016
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 CausalMutation disease CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 GeneticVariation disease CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 CausalMutation disease CLINVAR CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. 23164092 2012
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		0.100 CausalMutation disease CLINVAR Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 18446851 2008