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
ACAT1	gene	ACAT1	Expert List	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Alpha-methylacetoacetic aciduria, MIM#203750;Beta-ketothiolase deficiency MONDO:0008760						False	1	0;0;0	1.12	False		ENSG00000075239	ENSG00000075239	HGNC:93													
AK2	gene	AK2	Expert list	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal							False	1	0;100;0	1.12	False		ENSG00000004455	ENSG00000004455	HGNC:362													
SLC25A13	gene	SLC25A13	Expert List	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Citrullinemia, type II, neonatal-onset, MIM# 605814				18367750, 10369257, 19036621, 18392553, 21914561, 11343052, 11343053, 31607264		False	1	0;0;0	1.12	False		ENSG00000004864	ENSG00000004864	HGNC:10983