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
DYM	gene	DYM	Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326						False	3	0;0;100	0.5	False		ENSG00000141627	ENSG00000141627	HGNC:21317													
AMACR	gene	AMACR	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Alpha-methylacyl-CoA racemase deficiency, 614307;Alpha-Methylacyl-CoA Racemase Deficiency						False	2	100;0;0	0.5	False		ENSG00000242110	ENSG00000242110	HGNC:451													
HSD17B4	gene	HSD17B4	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400;Peroxisomal Bifunctional Enzyme Deficiency						False	2	100;0;0	0.5	False		ENSG00000133835	ENSG00000133835	HGNC:5213													
TRIM37	gene	TRIM37	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Mulibrey nanism, 253250;Mulibrey Nanism						False	2	0;100;0	0.5	False		ENSG00000108395	ENSG00000108395	HGNC:7523													
ABCD1	gene	ABCD1	Expert list	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Peroxisomal (other)						False	1	0;0;100	0.5	False		ENSG00000101986	ENSG00000101986	HGNC:61													
ACOX1	gene	ACOX1	Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Peroxisomal acyl-CoA oxidase deficiency, 264470						False	1	0;0;0	0.5	False		ENSG00000161533	ENSG00000161533	HGNC:119													
AGK	gene	AGK	Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Hyperoxaluria, primary, type 1, 259900						False	1	0;0;0	0.5	False		ENSG00000006530	ENSG00000006530	HGNC:21869													
AGPS	gene	AGPS	Expert list	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Peroxisomal (other)						False	1	0;0;0	0.5	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AGXT	gene	AGXT	Illumina TruGenome Clinical Sequencing Services	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria						False	1	0;0;0	0.5	False		ENSG00000172482	ENSG00000172482	HGNC:341													
CAT	gene	CAT	Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Acatalasemia, 614097						False	1	0;0;0	0.5	False		ENSG00000121691	ENSG00000121691	HGNC:1516													
CBS	gene	CBS	Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Acatalasemia, 614097						False	1	0;0;0	0.5	False		ENSG00000160200	ENSG00000160200	HGNC:1550													
DNM1L	gene	DNM1L	Radboud University Medical Center, Nijmegen	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388						False	1	0;0;0	0.5	False		ENSG00000087470	ENSG00000087470	HGNC:2973													
GRHPR	gene	GRHPR	Illumina TruGenome Clinical Sequencing Services	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria						False	1	0;0;0	0.5	False		ENSG00000137106	ENSG00000137106	HGNC:4570													
HOGA1	gene	HOGA1	Illumina TruGenome Clinical Sequencing Services	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Hyperoxaluria						False	1	0;0;0	0.5	False		ENSG00000241935	ENSG00000241935	HGNC:25155													
NSDHL	gene	NSDHL	Expert list	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Peroxisomal (other)						False	1	0;0;0	0.5	False		ENSG00000147383	ENSG00000147383	HGNC:13398													
PHYH	gene	PHYH	Expert list	Other peroxisomal disorders	Peroxisomal disorders	Metabolic disorders		Peroxisomal (other)						False	1	0;0;0	0.5	False		ENSG00000107537	ENSG00000107537	HGNC:8940