ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.030 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
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker group BEFREE Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP). 30854720 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker group BEFREE Genetic testing exonerated ACVR1 as culpable for the patient's toe malformation. 28473268 2017