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
CLCN5	gene	CLCN5	Emory Genetics Laboratory;Expert list;Expert Review Amber	Hypophosphataemia or rickets		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypophosphatemic rickets (300554)				28383812;9187673;9596078		False	2	0;100;0	4.2	False		ENSG00000171365	ENSG00000171365	HGNC:2023													
CYP3A4	gene	CYP3A4	Expert Review Amber;NHS GMS	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					29461981		False	2	0;0;100	4.2	False		ENSG00000160868	ENSG00000160868	HGNC:2637