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
KCNJ1	gene	KCNJ1	Literature	Amelogenesis imperfecta		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 2,  241200; Amelogenesis Imperfecta				23341834		False	1	0;0;0	4.30	False		ENSG00000151704	ENSG00000151704	HGNC:6255													
TMEM165	gene	TMEM165	Other	Amelogenesis imperfecta		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	amelogenesis imperfecta				22683087		False	1	0;0;0	4.30	False		ENSG00000134851	ENSG00000134851	HGNC:30760													
TUFT1	gene	TUFT1	Other	Amelogenesis imperfecta		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Woolly hair-skin fragility syndrome, OMIM:620415				25531160;36689522;37716648		False	1	0;0;100	4.30	False		ENSG00000143367	ENSG00000143367	HGNC:12422