Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
A4GALT-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0100587	A4GALT	Unknown	10747952 10993874 11896312 12823750 15142124 18067504 23927681 27612185	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways
ALG1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012052	ALG1	Causal	—	GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
ALG11-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013349	ALG11	Causal	20080937 22213132 30676690	GWAS catalog	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
ALG12-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011783	ALG12	Causal	12093361 11983712 12217961	GWAS catalog	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
ALG2-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011933	ALG2	Causal	—	GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
ALG3-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0010998	ALG3	Causal	—	GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
ALG6-CONGENITAL DISORDER OF GLYCOSYLATION 1C	MONDO:0011291	ALG6	Causal	—	GenCC	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
ALG8-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011969	ALG8	Unknown	—	GenCC	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
ALG9-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012117	ALG9	Unknown	—	GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
B3GALT6-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0100586	B3GALT6	Unknown	23664117 23664118 25149931 28649518 29230159 29443383 33363150 34529350	ClinGen, GWAS catalog	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
B4GALT1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011772	B4GALT1	Causal	11901181 21920538 32157688	ClinVar, GWAS catalog	Galactose metabolism N-Glycan biosynthesis Various types of N-glycan biosynthesis +11 more
CCDC115 CONGENITAL DISORDER OF GLYCOSYLATION	C4225191	CCDC115	Unknown	—	Disgenet	—
CCDC115-CDG	MONDO:0014789 468684	CCDC115	Causal	—	ClinGen	—
CCDC115-CDG	MONDO:0014789 468684	VMA22	Causal	26833332	ClinVar, Disgenet, Orphanet	—
COG1 CONGENITAL DISORDER OF GLYCOSYLATION		COG1	Causal	—	ClinVar	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG1-CDG	263508	COG1	Unknown	20301507	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012637	COG1	Unknown	—	ClinGen, GenCC	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG2-CDG	435934	COG2	Unknown	24784932	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG2-RELATED CONGENITAL DISORDER OF GLYCOSYLATION	C4479353	COG2	Unknown	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG4-CDG	263501	COG4	Unknown	20301507	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG4-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013281	COG4	Causal	—	ClinGen, ClinVar, GenCC	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG5 CONGENITAL DISORDER OF GLYCOSYLATION	C3150876	COG5	Unknown	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		DUS4L	Unknown	—	Disgenet	—
		DUS4L-BCAP29	Unknown	—	Disgenet	—
		HBP1	Unknown	—	Disgenet	—
COG5-CDG	263487	COG5	Unknown	20301507	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG5-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013325	COG5	Causal	11980916 19690088 23228021 28960046 31572517 32174980	ClinGen, ClinVar, GWAS catalog	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG6-CGD	464443	COG6	Unknown	23430903 26260076	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG6-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013810	COG6	Causal	20605848 21421995 23430903 23606727 26260076 27066481 32683677 33394555 35068072 38278647	CTD, ClinGen, ClinVar	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG7 CONGENITAL DISORDER OF GLYCOSYLATION		COG7	Causal	—	ClinVar	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG7-CDG	79333	COG7	Unknown	20301507	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG7-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012118	COG7	Unknown	—	ClinGen, GenCC	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG8-CDG	95428	COG8	Unknown	17331980	Orphanet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COG8-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012635	COG8	Causal	17220172 17331980 173319800 23806237	ClinVar, GWAS catalog	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4 CONGENITAL DISORDER OF GLYCOSYLATION	C4303552	COG4	Unknown	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6-CONGENITAL DISORDER OF GLYCOSYLATION	C3553230	COG6	Unknown	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0015286ORPHA137	ALG13	Causal	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		MAGT1	Causal	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +3 more
		PGM1	Causal	—	ClinVar	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
		SSR3	Causal	30945312	GenCC	Protein processing in endoplasmic reticulum
		ALG10	Unknown	33798445 9597543	ClinGen, GWAS catalog	N-Glycan biosynthesis Metabolic pathways
		ALG14	Unknown	16100110 23404334 28733338 30221345 33751823 34908252 34971077	ClinGen, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		COG3	Unknown	15728195 16420527 20972446 21421995 29899178 37711075	ClinGen, GWAS catalog	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		DDOST	Unknown	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
		DPM2	Unknown	—	ClinVar	N-Glycan biosynthesis Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways +5 more
		FAM20B	Unknown	19473117 21901110 27405802 30105814 30847897	ClinGen, Disgenet	—
		GFUS	Unknown	12186857 34468083	ClinGen, GWAS catalog	Fructose and mannose metabolism Biosynthesis of various nucleotide sugars Metabolic pathways +1 more
		MAN2A2	Unknown	—	ClinGen	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		PIGC	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGF	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGM	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGW	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		POFUT1	Unknown	—	ClinGen	Other types of O-glycan biosynthesis
		SSR4	Unknown	—	ClinVar	Protein processing in endoplasmic reticulum
		STX5	Unknown	34711829	Disgenet	SNARE interactions in vesicular transport COPII-mediated vesicle transport Cargo concentration in the ER +3 more
		TMEM165	Unknown	—	ClinVar	—
		TUSC3	Unknown	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +2 more
		VMA21	Unknown	—	ClinGen	—
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A	C0349653 MESH:C535739	ALG1	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A	C0349653 MESH:C535739	PMM2	Unknown	21539312	CTD, Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B	C1865145 MESH:C535740	FAM219B	Unknown	—	Disgenet	—
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B	C1865145 MESH:C535740	MPI	Unknown	—	CTD, Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C	C2930997 MESH:C535741	ALG6	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1D	MESH:C535742	ALG3	Unknown	—	CTD	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1E	MESH:C535743 MONDO:0012123	DPM1	Causal	10642597 10642602	CTD, ClinGen, ClinVar	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1EE WITH OR WITHOUT IMMUNODEFICIENCY	621140 MONDO:0976261	MAN2B2	Unknown	—	ClinVar, HPO	Other glycan degradation Lysosomal oligosaccharide catabolism
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G	C2931001 MESH:C535745	ALG12	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1H	C2931002 MESH:C535746	ALG8	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1K	C2931005 MESH:C535749	ALG1	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1L	C2931006 MESH:C535750	ALG9	Unknown	—	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1R	C3281084	DDOST	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1S	C4317295	ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1Y	C4012395	SSR4	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
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 MESH:C535754	COG7	Unknown	—	CTD, Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION TYPE I	MONDO:0005500	PMM2	Causal	—	GenCC	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE II	C5574948 MESH:C535747	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	STX5	Unknown	—	Disgenet	SNARE interactions in vesicular transport COPII-mediated vesicle transport Cargo concentration in the ER +3 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIAA	C5830651	STX5	Unknown	—	Disgenet	SNARE interactions in vesicular transport COPII-mediated vesicle transport Cargo concentration in the ER +3 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IR		DDOST	Causal	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2G	C2931011 MESH:C535756	COG1	Unknown	—	CTD, Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA	212065	PMM2	Unknown	—	HPO	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB	602579	MPI	Unknown	—	HPO	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC	603147	ALG6	Unknown	—	HPO	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ICC	301031 C5231393 MONDO:0026729	MAGT1	Causal	—	ClinVar, Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID	601110 C1832736	ALG3	Unknown	—	Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
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 IG	607143	ALG12	Unknown	—	HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IH	608104	ALG8	Unknown	—	HPO	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
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 IIAA	620454 MONDO:0957540	STX5	Unknown	—	ClinVar, GenCC, HPO	SNARE interactions in vesicular transport COPII-mediated vesicle transport Cargo concentration in the ER +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIBB	620546 C5882705 MONDO:0957820	COG3	Unknown	—	ClinVar, Disgenet, GenCC, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
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 IIE	608779	COG7	Unknown	—	HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG	611209	COG1	Unknown	—	HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH	611182 C1970021 MESH:C566987	COG8	Unknown	—	CTD, Disgenet, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE III	613612 OMIM:613612	COG5	Unknown	—	CTD, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ	613489 OMIM:613489	COG4	Unknown	19494034 21185756 33960418 34022244 34298581	CTD, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK	614727 OMIM:614727	TMEM165	Unknown	—	CTD, HPO	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL	614576 OMIM:614576	COG6	Unknown	—	CTD, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO	616828 OMIM:616828	VMA22	Unknown	—	CTD, HPO	—
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIQ	617395 MONDO:0054559 OMIM:617395	COG2	Causal	24784932 29878199	CTD, ClinGen, ClinVar, GWAS catalog, HPO	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK	608540	ALG1	Unknown	—	HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IL	608776	ALG9	Unknown	—	HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR	614507 OMIM:614507	DDOST	Unknown	—	CTD, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT	614921	PGM1	Unknown	—	HPO	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU	615042 OMIM:615042	DPM2	Unknown	—	CTD, HPO	N-Glycan biosynthesis Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways +5 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY	300934 OMIM:300934	SSR4	Unknown	—	CTD, HPO	Protein processing in endoplasmic reticulum
CONGENITAL DISORDERS OF GLYCOSYLATION	C0282577	ALG1	Unknown	14973778 24157261 26931382 27172925	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG10	Unknown	—	Disgenet, ClinGen	N-Glycan biosynthesis Metabolic pathways
		ALG11	Unknown	20080937 22213132 28122681 28649519 30676690	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
		ALG12	Unknown	11983712 12093361 12217961	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG13	Unknown	22492991 23934111 28887793	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG14	Unknown	—	Disgenet, ClinGen	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG2	Unknown	12684507 23404334 24461433 27671536 33644825 38770420	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG3	Unknown	10581255 15108280 17551933 32389449 34090370	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALG6	Unknown	10359825 10914684 10924277 16007612 27287710 36756224	Disgenet	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
		ALG8	Unknown	12480927 15235028 26066342 30420707 35716054	Disgenet	N-Glycan biosynthesis Metabolic pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein +1 more
		ALG9	Unknown	15148656 15945070 26453364 35839600	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
		COG1	Unknown	16537452 19008299 25533962 33960418 34625039	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COG3	Unknown	—	Disgenet, ClinGen	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COG5	Unknown	19690088 23430875 32174980	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COG6	Unknown	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COG7	Unknown	15107842 17356545 17395513 19577670 608779	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COG8	Unknown	17220172 17331980 28619360 30690882	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		DDOST	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
		DPM1	Unknown	10642597 10642602	Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
		DUS4L	Unknown	—	Disgenet	—
		DUS4L-BCAP29	Unknown	—	Disgenet	—
		FAM20B	Unknown	—	Disgenet, ClinGen	—
		HBP1	Unknown	—	Disgenet	—
		MAGT1	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +3 more
		MAN2B2	Unknown	—	Disgenet	Other glycan degradation Lysosomal oligosaccharide catabolism
		MPI	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		PGM1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
		PMM2	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		SSR3	Unknown	30945312	Disgenet	Protein processing in endoplasmic reticulum
		TMEM165	Unknown	—	Disgenet	—
		TUSC3	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +2 more
DDOST-CDG	300536	DDOST	Unknown	22305527	Orphanet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
DDOST-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013789	DDOST	Unknown	22305527	ClinGen, GWAS catalog	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
DISORDER OF GLYCOSYLATION	MONDO:0024322	MAN2A2	Unknown	36357165	GenCC, ClinGen	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
MPI-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011257	MPI	Causal	3080572 9525984 9585601	ClinGen, ClinVar, GenCC	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
PGM1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013968	PGM1	Causal	19625727	CTD, ClinGen, ClinVar	Glycolysis / Gluconeogenesis Pentose phosphate pathway Galactose metabolism +8 more
PMM2-CDG	79318	PMM2	Unknown	20301289 20301507	Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
PMM2-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0008907	PMM2	Causal	11916319 17307006 9781039 9887379 9497260 10922383 21937992 10602363 19235233 10527672 9140401 10801058	ClinGen, ClinVar, GWAS catalog	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
SSR4-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0010490	SSR4	Causal	24218363 26264460	ClinVar, GWAS catalog	Protein processing in endoplasmic reticulum
TMEM165-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013870	TMEM165	Causal	22683087	CTD, ClinVar	—

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Congenital disorder of glycosylation

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