ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Osteoma cutis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.010 GeneticVariation disease BEFREE However, no frameshift, missense, or nonsense mutations in ACVR1, or in the causative gene for POH (GNAS), were found. 29320714 2018