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
PEX1	gene	PEX1	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 1A (Zellweger), 214100;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX10	gene	PEX10	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 6A (Zellweger), 614870;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000157911	ENSG00000157911	HGNC:8851													
PEX12	gene	PEX12	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 3A (Zellweger), 614859;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000108733	ENSG00000108733	HGNC:8854													
PEX13	gene	PEX13	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 11A (Zellweger), 614883;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000162928	ENSG00000162928	HGNC:8855													
PEX14	gene	PEX14	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 14B, 614920; Peroxisome biogenesis disorder 13A (Zellweger), 614887;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-related;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX16	gene	PEX16	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 8A, (Zellweger), 614876;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000121680	ENSG00000121680	HGNC:8857													
PEX19	gene	PEX19	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 12A (Zellweger), 614886;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000162735	ENSG00000162735	HGNC:9713													
PEX2	gene	PEX2	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-related;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000164751	ENSG00000164751	HGNC:9717													
PEX26	gene	PEX26	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	"Peroxisome biogenesis disorder 7A (Zellweger)	614872;Peroxisome biogenesis disorder 7B	614873"						False	3	0;0;0	0.3	True		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX3	gene	PEX3	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 10A (Zellweger), 614882;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-related;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000034693	ENSG00000034693	HGNC:8858													
PEX5	gene	PEX5	Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 2A (Zellweger), 214110;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-related						False	3	0;0;0	0.3	False		ENSG00000139197	ENSG00000139197	HGNC:9719													
PEX6	gene	PEX6	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 4A (Zellweger), 614862;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000124587	ENSG00000124587	HGNC:8859													
PEX7	gene	PEX7	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879;Refsum Disease;Rhizomelic Chondrodysplasia Punctata;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Rhizomelic Chondrodysplasia Punctata, Type 1; RCDP1;Peroxisomal biogenesis disorders						False	3	0;0;0	0.3	False		ENSG00000112357	ENSG00000112357	HGNC:8860