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
ABCB6	gene	ABCB6	Expert Review Red	Haem degradation and bilirubin metabolism defects		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	familial pseudohyperkalemia MONDO:0012204;Disorders of heme synthesis and porphyrias			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904	24947683		False	1	0;0;0	1.0	False		ENSG00000115657	ENSG00000115657	HGNC:47													
CLPX	gene	CLPX	Literature	Haem degradation and bilirubin metabolism defects		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	protoporphyria, erythropoietic, 2 MONDO:0060729			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904	28874591;25957689		False	1	0;0;100	1.0	False		ENSG00000166855	ENSG00000166855	HGNC:2088													
HFE	gene	HFE	Expert Review Red;Royal Melbourne Hospital	Haem degradation and bilirubin metabolism defects		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Porphyria cutanea tarda, susceptibility to}, 176100;{Porphyria variegata, susceptibility to}, 176200			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904			False	1	0;0;100	1.0	True		ENSG00000010704	ENSG00000010704	HGNC:4886