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
CYP3A4	gene	CYP3A4	Expert Review;Expert Review Amber	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vitamin D-dependent rickets, type 3, MIM#619073				PMID: 38179381, 29461981, 36656330		False	2	0;100;0	0.53	False		ENSG00000160868	ENSG00000160868	HGNC:2637													
KL	gene	KL	Expert Review Amber;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	Unknown					18308935;17710231;31013726;9363890		False	2	0;100;0	0.53	True		ENSG00000133116	ENSG00000133116	HGNC:6344