Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	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
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-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
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	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-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
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
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
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 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 IR		DDOST	Causal	—	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1	618005 C4693905 MONDO:0020775	FUT8	Causal	16236725 27008861 29304374 32049367	ClinGen, ClinVar, Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Glycosaminoglycan biosynthesis - keratan sulfate +3 more
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2	618324 C5193028 MONDO:0020777	FCSK	Causal	30503518	ClinGen, ClinVar, Disgenet, HPO, Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2V	619493 C5561971 MONDO:0030423	EDEM3	Causal	34143952	ClinGen, ClinVar, Disgenet, HPO	Protein processing in endoplasmic reticulum ER Quality Control Compartment (ERQC)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA	617082 C4310727 MONDO:0014904 OMIM:617082	NUS1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IBB	C4693133	DHDDS	Causal	—	Disgenet	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
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 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 IIR	301045 C5393313 MONDO:0026765	ATP6AP2	Causal	29127204	ClinVar, Disgenet, GWAS catalog, HPO	Renin-angiotensin system Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIT	618885 C5394387 MONDO:0030043	GALNT2	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways +2 more
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIW	619525 C5561986 MONDO:0030437	SLC37A4	Causal	33964207 33728255	ClinVar, Disgenet, HPO	Carbohydrate digestion and absorption Glycogen storage disease type Ib (SLC37A4) Gluconeogenesis
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, AUTOSOMAL DOMINANT	C5562068 619714 MONDO:0859223	CACNA1D	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
	C5562068 619714 MONDO:0859223	STT3A	Causal	19167329 34653363 39435313 39891251	ClinGen, ClinVar, Disgenet, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
DK1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012556	DOLK	Causal	17273964 22242004	ClinGen, ClinVar, Disgenet	N-Glycan biosynthesis Metabolic pathways Synthesis of Dolichyl-phosphate +1 more
DPAGT1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011964	DPAGT1	Causal	12872255 22304930 22492991 26242989 33407696 33643843 37766827	ClinGen, ClinVar, 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
DPM3-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013049	DPM3	Causal	19576565 35932216	CTD, ClinGen, ClinVar	N-Glycan biosynthesis Metabolic pathways Synthesis of dolichyl-phosphate mannose +3 more
MAN1B1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0018349	MAN1B1	Causal	10409699 21763484 24348268 24566669	CTD, ClinGen	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
MGAT2-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0008908	MGAT2	Causal	8808595 20684000 11228641	CTD, ClinGen, ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
MOGS-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011629	MOGS	Causal	10788335 12145188 15383536 23836288 24716661 27626380 29235540 30389790 30587846 31925597 32246563 33058492 33261925 7635146	CTD, ClinGen, ClinVar	N-Glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum +2 more
MPDU1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012211	MPDU1	Causal	11733556 11733564	ClinGen, ClinVar, GWAS catalog	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-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-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
RFT1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012783	RFT1	Causal	18313027	ClinGen, ClinVar, HPO	Defective RFT1 causes RFT1-CDG (CDG-1n)
SLC35A1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011342	SLC35A1	Causal	15576474 23873973 25552652 28856833 30115659	ClinGen, ClinVar, Disgenet	Sialic acid metabolism Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) Transport of nucleotide sugars
SLC35A2-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0010478	SLC35A2	Causal	11319223 24115232 30817854 31231989	ClinVar	Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars
SRD5A3-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012885	SRD5A3	Causal	20637498 18271001 30019980	ClinGen, ClinVar, GWAS catalog	Steroid hormone biosynthesis N-Glycan biosynthesis Metabolic pathways +3 more
SSR4-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0010490	SSR4	Causal	24218363 26264460	ClinVar, GWAS catalog	Protein processing in endoplasmic reticulum
STT3A-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0014270	STT3A	Causal	23842455 28424003 30701557	ClinGen, ClinVar, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
STT3B-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0014271	STT3B	Causal	23842455	CTD, ClinVar, ClinGen	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
TMEM165-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013870	TMEM165	Causal	22683087	CTD, ClinVar	—

Congenital disorder of glycosylation

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