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
ABCD1	gene	ABCD1	Illumina TruGenome Clinical Sequencing Services	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Adrenoleukodystrophy, X-linked						False	1	0;0;100	0.3	False		ENSG00000101986	ENSG00000101986	HGNC:61													
ACOX1	gene	ACOX1	Illumina TruGenome Clinical Sequencing Services	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Pseudoneonatal Adrenoleukodystrophy						False	1	0;0;0	0.3	False		ENSG00000161533	ENSG00000161533	HGNC:119													
ARSE	gene	ARSE	UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders		Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1						False	1	0;0;0	0.3	False		ENSG00000157399	ENSG00000157399	HGNC:719													
EBP	gene	EBP	UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders		Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2						False	1	0;0;0	0.3	False		ENSG00000147155	ENSG00000147155	HGNC:3133