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
ABCD3	gene	ABCD3	Emory Genetics Laboratory	Peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	"Bile acid synthesis defect, congenital, 5	616278"				 25168382 		False	1	0;0;100	1.20	False		ENSG00000117528	ENSG00000117528	HGNC:67													
CBS	gene	CBS	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types 236200; Thrombosis, hyperhomocysteinemic 236200						False	1	0;0;100	1.20	False		ENSG00000160200	ENSG00000160200	HGNC:1550													
IDH1	gene	IDH1	Other	Peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	Unknown							False	1	0;0;100	1.20	False		ENSG00000138413	ENSG00000138413	HGNC:5382