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
SMPD1	gene	SMPD1	Expert Review Green;NHS GMS	Niemann-Pick disease type A or B		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type A, OMIM:257200;Niemann-Pick disease, type B, OMIM:607616;Niemann-Pick disease type A, MONDO:0009756;Niemann-Pick disease type B, MONDO:0011871						False	3	100;0;0	1.3	False		ENSG00000166311	ENSG00000166311	HGNC:11120