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
HMBS	gene	HMBS	Expert Review Green;NHS GMS	Acute intermittent porphyria		Gastrohepatology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Porphyria, acute intermittent, nonerythroid variant, OMIM:176000;Porphyria, acute intermittent, OMIM:176000;acute intermittent porphyria, MONDO:0008294;Encephalopathy, porphyria-related, OMIM:620704;encephalopathy, porphyria-related, MONDO:0958224;Leukoencephalopathy, porphyria-related, OMIM: 620711				27539938;38940544;14262853;1577472;15534187;14970743;27558376;31153822;34089223		False	3	100;0;0	1.6	False		ENSG00000256269	ENSG00000256269	HGNC:4982