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
ADCY10	gene	ADCY10	Expert list;Expert Review Amber	Calcium and Phosphate disorders		Renal and urinary tract disorders; Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercalciuria, absorptive, susceptibility to, MIM#143870			Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529	11932268		False	2	0;100;0	1.24	True		ENSG00000143199	ENSG00000143199	HGNC:21285													
FGFR1	gene	FGFR1	Expert Review Amber;Other	Calcium and Phosphate disorders		Renal and urinary tract disorders; Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	osteoglophonic dwarfism MONDO:0008150			Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529	35738466;36999651;29147600;26839958		False	2	0;100;0	1.24	True		ENSG00000077782	ENSG00000077782	HGNC:3688													
KL	gene	KL	Expert Review Amber;KidGen_CalcPhos v38.1.0	Calcium and Phosphate disorders		Renal and urinary tract disorders; Endocrine disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994;Hyperphosphatemia			Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529	17710231;31013726;9363890		False	2	0;100;0	1.24	True		ENSG00000133116	ENSG00000133116	HGNC:6344													
