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
NPC1	gene	NPC1	Expert Review Green;NHS GMS	Niemann Pick disease type C		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type C1, OMIM:257220;Niemann-Pick disease, type D, OMIM:257220;Niemann-Pick disease, type C1, MONDO:0009757						False	3	100;0;0	1.4	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
NPC2	gene	NPC2	Expert Review Green;NHS GMS	Niemann Pick disease type C		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Niemann-pick disease, type C2, OMIM:607625;Niemann-Pick disease, type C2, MONDO:0011873						False	3	100;0;0	1.4	False		ENSG00000119655	ENSG00000119655	HGNC:14537