ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Hallux Valgus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.110 GeneticVariation disease BEFREE Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor. 28473268 2017
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.110 Biomarker disease HPO