ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Lethal skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.010 GeneticVariation disease BEFREE We report the clinical and molecular characterization of a lethal skeletal dysplasia of the short-rib group caused by mutation of the mouse Fop gene. 29982567 2018