ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Childhood Brain Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		0.010 GeneticVariation disease BEFREE Gain-of-function mutations in the Type I Bone Morphogenic Protein (BMP) receptor ACVR1 have been identified in two diseases: Fibrodysplasia Ossificans Progressiva (FOP), a rare autosomal dominant disorder characterized by genetically driven heterotopic ossification, and in 20-25% of Diffuse Intrinsic Pontine Gliomas (DIPGs), a pediatric brain tumor with no effective therapies and dismal median survival. 28780023 2018