Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation 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
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker BEFREE Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP). 30854720

2019
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker BEFREE Genetic testing exonerated ACVR1 as culpable for the patient's toe malformation. 28473268

2017