Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
MBTPS2	gene	MBTPS2	Expert list;Expert Review Amber	Osteogenesis Imperfecta and Osteoporosis		Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Osteogenesis imperfecta, type XIX, MIM#	301014"			Increased susceptibility to fractures;HP:0002659	27380894		False	2	0;100;0	1.0	True		ENSG00000012174	ENSG00000012174	HGNC:15455													
PHLDB1	gene	PHLDB1	Expert Review Amber;Literature	Osteogenesis Imperfecta and Osteoporosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XXIII, MIM# 620639			Increased susceptibility to fractures;HP:0002659	36543534		False	2	0;100;0	1.0	True		ENSG00000019144	ENSG00000019144	HGNC:23697													
SUCO	gene	SUCO	Expert list;Expert Review Amber	Osteogenesis Imperfecta and Osteoporosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta			Increased susceptibility to fractures;HP:0002659	29620724;20440000		False	2	0;100;0	1.0	True		ENSG00000094975	ENSG00000094975	HGNC:1240													
TAPT1	gene	TAPT1	Expert Review Amber;Victorian Clinical Genetics Services	Osteogenesis Imperfecta and Osteoporosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)			Increased susceptibility to fractures;HP:0002659	26365339;36697720;36652330		False	2	0;100;0	1.0	True		ENSG00000169762	ENSG00000169762	HGNC:26887													
UNC45A	gene	UNC45A	Expert Review Amber;Victorian Clinical Genetics Services	Osteogenesis Imperfecta and Osteoporosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Osteootohepatoenteric syndrome, MIM# 619377;cholestasis;congenital diarrhea;impaired hearing;bone fragility			Increased susceptibility to fractures;HP:0002659	29429573		False	2	0;100;0	1.0	True		ENSG00000140553	ENSG00000140553	HGNC:30594