ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Arthropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.010 GeneticVariation group BEFREE The effects of ACVR1 mutation on the normotopic skeletons of individuals who have FOP extend beyond malformation of the great toes and include both morphological defects and developmental arthropathy. 31655222 2020