Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 121340
Gene Symbol: SP7
SP7 		0.600 Biomarker disease GENOMICS_ENGLAND Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 29382611 2018
Entrez Id: 121340
Gene Symbol: SP7
SP7 		0.600 Biomarker disease CTD_human
Entrez Id: 121340
Gene Symbol: SP7
SP7 		0.600 CausalMutation disease CLINVAR
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		0.100 CausalMutation disease CLINVAR
Entrez Id: 649
Gene Symbol: BMP1
BMP1 		0.010 GeneticVariation disease BEFREE Finally, absence of the type I collagen C-propeptidase bone morphogenetic protein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturation/processing. 25007323 2014