Type	Entity	Source evidence	Confidence	Extractor
gene	SP7	“In children without extra-skeletal features, 14 of 70 (20%) had pathogenic variants, of which 7 were variants in type 1 collagen, and the remaining 7 variants were associated with osteoblast function or signaling (PLS3, SP7, LRP5).”	0.98	hgnc_dict_v1
phenotype	osteogenesis imperfecta	“UNLABELLED: We assessed the diagnostic utility of genetic panel testing to detect pathogenic variants associated with osteogenesis imperfecta in children presenting with multiple fractures.”	0.98	phenotype_alias_lexicon_v2
gene	COL1A1	“In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.”	0.98	hgnc_dict_v1
gene	COL1A2	“In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.”	0.98	hgnc_dict_v1

PMID 32413570 | DOI 10.1016/j.ejmg.2020.103954 · European journal of medical genetics · 2020 · 10 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SP7	“The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.”	0.98	hgnc_dict_v1
phenotype	osteogenesis imperfecta	“Biallelic variants in four genes underlying recessive osteogenesis imperfecta.”	0.98	phenotype_alias_lexicon_v2
gene	SERPINF1	“The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.”	0.98	hgnc_dict_v1
gene	SPARC	“The three previously reported homozygous variants including [c.497G > A; p.(Arg166His)] in the SPARC gene, (c.359-3C > G; intron 2) and [c.677C > T; p.(Ser226Leu)] in the WNT1 gene were identified in family C, D, and E.”	0.98	hgnc_dict_v1