ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Neonatal Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity 		0.010 GeneticVariation disease BEFREE Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues. 24047559 2013