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
GSR	gene	GSR	Expert Review Amber;Other	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531;Disorders of glutathione metabolism			Abnormality of amino acid metabolism;HP:0004337	17185460;31122244		False	2	0;100;0	1.134	True		ENSG00000104687	ENSG00000104687	HGNC:4623													
PPM1K	gene	PPM1K	Expert Review Amber;Victorian Clinical Genetics Services	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, mild variant MONDO:0014057			Abnormality of amino acid metabolism;HP:0004337	29152456;23086801;36706222		False	2	0;50;50	1.134	True		ENSG00000163644	ENSG00000163644	HGNC:25415													
SLC1A1	gene	SLC1A1	ClinGen;Expert Review Amber	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	dicarboxylic aminoaciduria MONDO:0009110			Abnormality of amino acid metabolism;HP:0004337	21123949		False	2	0;100;0	1.134	True		ENSG00000106688	ENSG00000106688	HGNC:10939													
SLC6A6	gene	SLC6A6	ClinGen;Expert Review Amber	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777			Abnormality of amino acid metabolism;HP:0004337	31903486;31345061		False	2	0;100;0	1.134	True		ENSG00000131389	ENSG00000131389	HGNC:11052													
SUGCT	gene	SUGCT	ClinGen;Expert Review Amber	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	glutaric acidemia type 3 MONDO:0009283			Abnormality of amino acid metabolism;HP:0004337	18926513;28766179;29421601		False	2	0;100;0	1.134	True		ENSG00000175600	ENSG00000175600	HGNC:16001													
UROC1	gene	UROC1	ClinGen;Expert Review Amber	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	urocanic aciduria MONDO:0010167			Abnormality of amino acid metabolism;HP:0004337	19304569;30619714;32439973;27391121		False	2	0;100;0	1.134	True		ENSG00000159650	ENSG00000159650	HGNC:26444