ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Telangiectasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.340 GeneticVariation disease LHGDN Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. 18312453 2008
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.340 Biomarker disease LHGDN DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. 16429404 2006
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.340 GeneticVariation disease LHGDN Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.340 Biomarker disease GENOMICS_ENGLAND Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.340 GeneticVariation disease LHGDN Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. 12114496 2002