ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 Biomarker group GENOMICS_ENGLAND Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 GeneticVariation group BEFREE Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant bleeding disorder and has two variants, HHT1 and HHT2, associated with mutations in the ENG and ALK-1 genes, respectively. 16861286 2006