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
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
CCDC115 CONGENITAL DISORDER OF GLYCOSYLATION	C4225191	CCDC115	Unknown	—	Disgenet	—
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
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
COG6-CGD	464443	COG6	Unknown	23430903 26260076	Orphanet	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
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	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 1EE WITH OR WITHOUT IMMUNODEFICIENCY	621140 MONDO:0976261	MAN2B2	Unknown	—	ClinVar, HPO	Other glycan degradation Lysosomal oligosaccharide catabolism
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F	MESH:C535744	MPDU1	Unknown	—	CTD	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective MPDU1 causes MPDU1-CDG (CDG-1f)
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 1G	C2931001 MESH:C535745	AP4E1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
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 1J	C2931004 MESH:C535748	DPAGT1	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 1J	C2931004 MESH:C535748	HMBS	Unknown	—	Disgenet	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +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 1K	C2931005 MESH:C535749	EEF2KMT	Unknown	—	Disgenet	Protein methylation
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 1L	C2931006 MESH:C535750	ATP6V0A2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1Q	C4317224	SRD5A3	Unknown	—	Disgenet	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways +3 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 1W	C3810062	STT3A	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 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 II	C5574948	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 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 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 IF	609180 C1836669	MPDU1	Unknown	—	Disgenet, HPO	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective MPDU1 causes MPDU1-CDG (CDG-1f)
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 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 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 IJ	608093	DPAGT1	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 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 IQ	612379 OMIM:612379	SRD5A3	Unknown	—	CTD, HPO	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways +3 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 IU	615042 OMIM:615042	DPM2	Unknown	—	CTD, HPO	N-Glycan biosynthesis Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways +5 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, AUTOSOMAL RECESSIVE	615596 C5561935 OMIM:615596	STT3A	Unknown	—	CTD, Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 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
		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
		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
		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
		DPAGT1	Unknown	—	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
		DUS4L	Unknown	—	Disgenet	—
		DUS4L-BCAP29	Unknown	—	Disgenet	—
		EEF2KMT	Unknown	—	Disgenet	Protein methylation
		FAM20B	Unknown	—	Disgenet, ClinGen	—
		HBP1	Unknown	—	Disgenet	—
		HMBS	Unknown	—	Disgenet	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		MAN2B2	Unknown	—	Disgenet	Other glycan degradation Lysosomal oligosaccharide catabolism
		MPDU1	Unknown	—	Disgenet	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective MPDU1 causes MPDU1-CDG (CDG-1f)
		MPI	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		PMM2	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		SRD5A3	Unknown	—	Disgenet	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways +3 more
		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
PMM2-CDG	79318	PMM2	Unknown	20301289 20301507	Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more

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Congenital disorder of glycosylation

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