TLL1, tolloid like 1, 7092

N. diseases: 24; N. variants: 10
Disease: Osteogenesis Imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.020 Biomarker disease BEFREE Mutations in bone morphogenetic protein 1 (BMP1) in humans or deletion of BMP1 and related protease tolloid like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI). 28068493 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.020 Biomarker disease BEFREE Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. 24419319 2014