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
COG3	gene	COG3	Expert Review Amber;Literature	Congenital disorders of glycosylation		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIbb, OMIM:620546				37711075		False	2	0;100;0	7.17	False		ENSG00000136152	ENSG00000136152	HGNC:18619													
SSR3	gene	SSR3	Expert Review Amber;Literature	Congenital disorders of glycosylation		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation				30945312		False	2	0;100;0	7.17	False		ENSG00000114850	ENSG00000114850	HGNC:11325													
TRAPPC11	gene	TRAPPC11	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Congenital disorders of glycosylation		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144				23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880		False	2	0;67;33	7.17	False		ENSG00000168538	ENSG00000168538	HGNC:25751