Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.040 GeneticVariation group BEFREE Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. 29449337 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.040 Biomarker group BEFREE To normalize the altered hemodynamic forces in Acvrl1(+/-); Gja5(EGFP/+) mice, capillaries formed transient arteriovenous shunts that could develop into large malformations when exposed to environmental insults. 26821948 2016
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.040 Biomarker group BEFREE HHT1 is more frequently associated with congenital AVM malformations, such as CAVMs and PAVMs whereas HHT2 predominantly involves the liver. 17388964 2007
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.040 Biomarker group BEFREE Thus, vbg provides a model for the human autosomal dominant disorder, hereditary hemorrhagic telangiectasia type 2, in which disruption of ACVRL1 causes vessel malformations that may result in hemorrhage or stroke.Movies available on-line 12050147 2002