ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Angiodysplasia of colon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267370
Disease: Angiodysplasia of colon
Angiodysplasia of colon 		0.010 Biomarker disease BEFREE Hereditary haemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by localized angiodysplasia due to mutations in endoglin, ALK-1 gene, and a still unidentified locus. 16429404 2006