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
BLVRA	gene	BLVRA	Expert Review Amber	Haem degradation and bilirubin metabolism defects		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Disorders of haem degradation and bilirubin metabolism;hyperbiliverdinemia MONDO:0013595			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904	19580635, 21278388		False	2	0;0;0	0.17	False		ENSG00000106605	ENSG00000106605	HGNC:1062													
CYB5A	gene	CYB5A	Expert Review Amber	Haem degradation and bilirubin metabolism defects		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Disorders of haem degradation and bilirubin metabolism;methemoglobinemia type 4 MONDO:0009605			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904	22170710, 20080843, 32051920, 3951505		False	2	0;0;0	0.17	False		ENSG00000166347	ENSG00000166347	HGNC:2570													
GATA1	gene	GATA1	Expert Review Amber;Royal Melbourne Hospital	Haem degradation and bilirubin metabolism defects		Metabolic disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital erythropoietic porphyria			Porphyria;MONDO:0037939;Abnormal circulating porphyrin concentration;HP:0010472;Hyperbilirubinemia;HP:0002904	25251786;17148589		False	2	0;100;0	0.17	True		ENSG00000102145	ENSG00000102145	HGNC:4170