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
GCSH	gene	GCSH	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism				1671321;27604308		False	1	0;0;100	1.48	True		ENSG00000140905	ENSG00000140905	HGNC:4208													
HIBADH	gene	HIBADH	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	organic aciduria				34176136		False	1	0;0;100	1.48	True		ENSG00000106049	ENSG00000106049	HGNC:4907													
NAT8L	gene	NAT8L	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	N-acetylaspartate deficiency - MIM#614063				11310630;19807691;32275776		False	1	0;50;50	1.48	True		ENSG00000185818	ENSG00000185818	HGNC:26742													
PPA1	gene	PPA1	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Galactosaemia, MONDO:0018116				37999237		False	1	0;0;100	1.48	True		ENSG00000180817	ENSG00000180817	HGNC:9226													
SLC27A5	gene	SLC27A5	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Bile acid-CoA ligase deficiency;Disorders of bile acid biosynthesis				22089923;27604308		False	1	0;0;100	1.48	True		ENSG00000083807	ENSG00000083807	HGNC:10999													
TDO2	gene	TDO2	Expert Review Red;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism				28285122;27604308		False	1	0;0;100	1.48	True		ENSG00000151790	ENSG00000151790	HGNC:11708