ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 Biomarker phenotype BEFREE Although mutated ACVR1 (FOP-ACVR1) has been shown to render hyperactivity in BMP signaling, we and others have uncovered a mechanism by which FOP-ACVR1 mistransduces BMP signaling in response to Activin-A, a molecule that normally transduces TGF-β signaling. 28758906 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 GeneticVariation phenotype BEFREE We found that a key determinant for ALK2(R206H) hyperactivity is a functional type II receptor. 22174087 2012