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
AP2S1	gene	AP2S1	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalciuric hypercalcemia, type III, OMIM:600740				23222959;28176280;24081735;25993639;26082470;33729479		False	3	100;0;0	2.12	False		ENSG00000042753	ENSG00000042753	HGNC:565													
CASR	gene	CASR	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalciuric hypercalcemia, type I, OMIM:145980				7874174;7916660;19423559;9011580;7717399		False	3	100;0;0	2.12	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
GNA11	gene	GNA11	Expert Review Green;Radboud University Medical Center, Nijmegen	Hypocalciuric hypercalcaemia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalcemia, autosomal dominant 2, OMIM:615361;Hypocalciuric hypercalcemia, type II, OMIM:145981				23222959;26729423		False	3	100;0;0	2.12	False		ENSG00000088256	ENSG00000088256	HGNC:4379