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
ALDH1A3	gene	ALDH1A3	Expert Review Red	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Isolated microphthalmia 8 MONDO:0014050;Other disorders of vitamin metabolism			Abnormality of vitamin metabolism;HP:0100508	23312594, 23591992, 30200890		False	1	0;0;0	1.7	False		ENSG00000184254	ENSG00000184254	HGNC:409													
ALPL	gene	ALPL	Expert review  Green	Vitamin metabolism disorders		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	disorder of bone metabolism;Hypophosphatasia;Disorders of pyridoxine metabolism			Abnormality of vitamin metabolism;HP:0100508	3174660, 1409720		False	1	0;0;0	1.7	False		ENSG00000162551	ENSG00000162551	HGNC:438													
BCO1	gene	BCO1	Expert Review Red	Vitamin metabolism disorders		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other disorders of vitamin metabolism;hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272			Abnormality of vitamin metabolism;HP:0100508	17951468		False	1	0;0;0	1.7	False		ENSG00000135697	ENSG00000135697	HGNC:13815													
EPHX1	gene	EPHX1	Expert Review Red	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Familial hypercholanemia MONDO:0011905;Other disorders of vitamin metabolism			Abnormality of vitamin metabolism;HP:0100508	34342583		False	1	0;0;0	1.7	False		ENSG00000143819	ENSG00000143819	HGNC:3401													
RBP3	gene	RBP3	Expert Review Red	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 66 MONDO:0014093;Other disorders of vitamin metabolism			Abnormality of vitamin metabolism;HP:0100508			False	1	0;0;0	1.7	False		ENSG00000107618	ENSG00000265203	HGNC:9921													
THAP11	gene	THAP11	Expert Review;Expert Review Red;Literature	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related			Abnormality of vitamin metabolism;HP:0100508	28449119		False	1	0;0;100	1.7	True		ENSG00000168286	ENSG00000168286	HGNC:23194													
TTPA	gene	TTPA	Expert Review green	Vitamin metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	familial isolated deficiency of vitamin E MONDO:0010188;Other disorders of vitamin metabolism			Abnormality of vitamin metabolism;HP:0100508	27604308, 7719340		False	1	0;0;0	1.7	False		ENSG00000137561	ENSG00000137561	HGNC:12404