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 disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIbb, MIM# 620546				37711075		False	2	0;100;0	1.88	True		ENSG00000136152	ENSG00000136152	HGNC:18619													
MAN2A2	gene	MAN2A2	Expert Review Amber;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated				36357165;40628855		False	2	0;100;0	1.88	True		ENSG00000196547	ENSG00000196547	HGNC:6825													
PIGU	gene	PIGU	Expert list;Expert Review Amber	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590				31353022		False	2	0;100;0	1.88	True		ENSG00000101464	ENSG00000101464	HGNC:15791													
POFUT1	gene	POFUT1	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dowling-Degos disease 2 (MIM# 615327)				23684010;29452367;25157627		False	2	0;100;0	1.88	True		ENSG00000101346	ENSG00000101346	HGNC:14988													
SLC26A2	gene	SLC26A2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Skeletal dysplasia (various)				11241838		False	2	0;100;0	1.88	True		ENSG00000155850	ENSG00000155850	HGNC:10994													
SLC9A7	gene	SLC9A7	Expert list;Expert Review Amber	Congenital Disorders of Glycosylation		Metabolic disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked 108, OMIM #301024				30335141		False	2	0;100;0	1.88	True		ENSG00000065923	ENSG00000065923	HGNC:17123													
SSR3	gene	SSR3	Expert Review Amber;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation				30945312		False	2	0;100;0	1.88	True		ENSG00000114850	ENSG00000114850	HGNC:11325													
STX5	gene	STX5	Expert Review Amber;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	congenital disorder of glycosylation MONDO#0015286, STX5-related				34711829		False	2	0;100;0	1.88	True		ENSG00000162236	ENSG00000162236	HGNC:11440													
TRAPPC11	gene	TRAPPC11	Expert Review Amber;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356				23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880		False	2	50;50;0	1.88	True		ENSG00000168538	ENSG00000168538	HGNC:25751