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	Neurological segmental overgrowth		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416						False	1	0;0;0	3.3	False		ENSG00000105221	ENSG00000105221	HGNC:392													
HRAS	gene	HRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
KRAS	gene	KRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
MTOR	gene	MTOR	Expert Review Red	Neurological segmental overgrowth		Neurology		Segmental Overgrowth Syndrome;HME;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000198793	ENSG00000198793	HGNC:3942													
NRAS	gene	NRAS	Expert Review Red	Neurological segmental overgrowth		Neurology		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly						False	1	0;0;0	3.3	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
TBC1D7	gene	TBC1D7	Expert Review Red	Neurological segmental overgrowth		Neurology	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000						False	1	100;0;0	3.3	False		ENSG00000145979	ENSG00000145979	HGNC:21066													
