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
AKT2	gene	AKT2	Expert Review Red;Literature	Hyperinsulinism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diabetes mellitus, type II	MIM#125853;Hypoinsulinemic hypoglycemia with hemihypertrophy	MIM#240900"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	21979934;35602880;24285683		False	1	0;0;100	1.30	True		ENSG00000105221	ENSG00000105221	HGNC:392													
EIF2S3	gene	EIF2S3	Expert Review Red;Victorian Clinical Genetics Services	Hyperinsulinism		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MEHMO syndrome, MIM# 300148			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943			False	1	0;0;100	1.30	True		ENSG00000130741	ENSG00000130741	HGNC:3267													
GPC3	gene	GPC3	Expert Review Red;Literature	Hyperinsulinism		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Simpson-Golabi-Behmel syndrome, type 1	MIM#312870"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	20301398		False	1	0;0;100	1.30	True		ENSG00000147257	ENSG00000147257	HGNC:4451