Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.700 GeneticVariation disease UNIPROT Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 26027498 2015
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 26027498 2015
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 26027498 2015
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.700 CausalMutation disease CLINVAR
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		0.700 Biomarker disease CTD_human