Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X	C2931007	STT3B	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A	C2931008 MESH:C535752	MGAT2	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2D	C2931009 MESH:C535753	B4GALT1	Unknown	—	CTD, Disgenet	Galactose metabolism N-Glycan biosynthesis Various types of N-glycan biosynthesis +11 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2E	C2931010	CEP290	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE II	C5574948 MESH:C535747 MONDO:0005501	ALG2	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE II	C5574948 MESH:C535747 MONDO:0005501	ATP6AP1	Unknown	11989824 22087256 27231034 28514442 29192153 29396028 32058063 32216104 33065002 34621841 36651831 36719165 37108612 7929063	ClinGen, Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Lysosome +10 more
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1	C4693905	FCSK	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD	301133 MONDO:0975846	DHRSX	Unknown	—	ClinVar, HPO	N-Glycan biosynthesis Metabolic pathways
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C	C0398739 MESH:C535755	SLC35C1	Unknown	—	CTD, Disgenet	Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) GDP-fucose biosynthesis Transport of nucleotide sugars
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2G	C2931011	VCF1	Unknown	—	Disgenet	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID	C1832736	EEF1AKMT4	Unknown	—	Disgenet	—
		EEF1AKMT4-ECE2	Unknown	—	Disgenet	Peptide ligand-binding receptors
		VWA5B2	Unknown	—	Disgenet	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE	608799 C1837396	DPM1	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF	C1836669	SOX15	Unknown	—	Disgenet	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II	607906 C1842836	ALG2	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II	607906 C1842836	ATP6AP1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +10 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA	212066	MGAT2	Unknown	—	HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB	606056 C1853736 MESH:C565264	MOGS	Unknown	—	CTD, Disgenet, HPO	N-Glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC	266265	SLC35C1	Unknown	—	HPO	Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) GDP-fucose biosynthesis Transport of nucleotide sugars
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID	607091	B4GALT1	Unknown	—	HPO	Galactose metabolism N-Glycan biosynthesis Various types of N-glycan biosynthesis +11 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF	603585 C1970344 MESH:C567040	SLC35A1	Unknown	—	CTD, Disgenet, HPO	Sialic acid metabolism Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) Transport of nucleotide sugars
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH	C1970021	PDF	Unknown	—	Disgenet	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM	300896 OMIM:300896	SLC35A2	Unknown	—	CTD, HPO	Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN	616721 OMIM:616721	SLC39A8	Unknown	—	CTD, HPO	Ferroptosis Alzheimer disease Parkinson disease +1 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO	616828 OMIM:616828	VMA22	Unknown	—	CTD, HPO	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP	616829 OMIM:616829	VMA12	Unknown	26833330	CTD, HPO	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIY	620200 C5774294 MONDO:0859356	GET4	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Protein export
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIZ	620201 C5774295 MONDO:0859357	CAMLG	Unknown	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM	610768 C1835849 MESH:C563666	DOLK	Unknown	—	CTD, Disgenet, HPO	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM	610768 C1835849 MESH:C563666	NUP188	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN	612015 C2677590 MESH:C567437	RFT1	Unknown	—	CTD, Disgenet, HPO	Defective RFT1 causes RFT1-CDG (CDG-1n)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO	C2752007 MESH:C567857	DPM3	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP	613661 C3150913 OMIM:613661	ALG11	Unknown	—	CTD, Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
		ATP7B	Unknown	—	Disgenet	Platinum drug resistance Mineral absorption Ion transport by P-type ATPases
		UTP14C	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes Major pathway of rRNA processing in the nucleolus and cytosol
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT	614921	PGM1	Unknown	—	HPO	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX	615597 OMIM:615597	STT3B	Unknown	—	CTD, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
CONGENITAL DISORDERS OF GLYCOSYLATION	C0282577	ALG11	Unknown	20080937 22213132 28122681 28649519 30676690	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
		ALG2	Unknown	12684507 23404334 24461433 27671536 33644825 38770420	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		B4GALT1	Unknown	11901181 21920538 32157688	Disgenet	Galactose metabolism N-Glycan biosynthesis Various types of N-glycan biosynthesis +11 more
		DPM1	Unknown	10642597 10642602	Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
		MAGT1	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +3 more
		MGAT2	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		MROH8	Unknown	—	Disgenet	—
		NUS1	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
		PDF	Unknown	—	Disgenet	—
		PGM1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
		RARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		RFT1	Unknown	—	Disgenet	Defective RFT1 causes RFT1-CDG (CDG-1n)
		RPN2	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		SLC35A1	Unknown	—	Disgenet	Sialic acid metabolism Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) Transport of nucleotide sugars
		SLC35A2	Unknown	—	Disgenet	Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars
		SLC35C1	Unknown	11326279 11326280	Disgenet	Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) GDP-fucose biosynthesis Transport of nucleotide sugars
		SLC37A4	Unknown	—	Disgenet	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
		SSR3	Unknown	30945312	Disgenet	Protein processing in endoplasmic reticulum
		UTP14C	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes Major pathway of rRNA processing in the nucleolus and cytosol
DISORDER OF PROTEIN N-GLYCOSYLATION	C5681044 MONDO:0017740	UGGT1	Unknown	—	Disgenet, GenCC	Protein processing in endoplasmic reticulum ER Quality Control Compartment (ERQC)
DK1-CDG	91131	DOLK	Unknown	20301507	Orphanet	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
SOLUTE CARRIER FAMILY 35 MEMBER A2 CONGENITAL DISORDER OF GLYCOSYLATION	C3806688	SLC35A2	Unknown	—	Disgenet	Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars
SOLUTE CARRIER FAMILY 39 MEMBER 8 CONGENITAL DISORDER OF GLYCOSYLATION	C4225234	SLC39A8	Unknown	—	Disgenet	Ferroptosis Alzheimer disease Parkinson disease +1 more
TMEM199 CONGENITAL DISORDER OF GLYCOSYLATION	C4225190	TMEM199	Unknown	—	Disgenet	—
XYLOSYLTRANSFERASE 1 CONGENITAL DISORDER OF GLYCOSYLATION	C4750849	XYLT1	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more
XYLT1-CDG	370930	XYLT1	Unknown	—	Orphanet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more
XYLT1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0018273	XYLT1	Unknown	—	Orphanet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more

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Congenital disorder of glycosylation

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