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
CD320	gene	CD320	Expert Review Amber	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341			Abnormality of vitamin metabolism;HP:0100508	27604308;29663633;30303736		False	2	0;0;0	1.7	False		ENSG00000167775	ENSG00000167775	HGNC:16692													
STRA6	gene	STRA6	Expert Review Amber	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Matthew-Wood syndrome MONDO:0011010;Other disorders of vitamin metabolism			Abnormality of vitamin metabolism;HP:0100508	21901792, 18316031, 24852372		False	2	0;0;0	1.7	False		ENSG00000137868	ENSG00000137868	HGNC:30650													
TCN1	gene	TCN1	Expert Review Amber;Literature	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	transcobalamin I deficiency MONDO:0008659			Abnormality of vitamin metabolism;HP:0100508	19686235		False	2	0;100;0	1.7	True		ENSG00000134827	ENSG00000134827	HGNC:11652													
ZNF143	gene	ZNF143	Expert Review;Expert Review Amber;Expert Review Red;Literature	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	methylmalonic aciduria and homocystinuria MONDO:0016826			Abnormality of vitamin metabolism;HP:0100508	27349184;33845046;9009278;22268977;27349184;27349184		False	2	0;50;50	1.7	True		ENSG00000166478	ENSG00000166478	HGNC:12928