Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
A4GALT-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0100587	A4GALT	Unknown	10747952 10993874 11896312 12823750 15142124 18067504 23927681 27612185	GWAS catalog
ALG1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012052	ALG1	Causal	—	GenCC
ALG11-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013349	ALG11	Causal	20080937 22213132 30676690	GWAS catalog
ALG12-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011783	ALG12	Causal	12093361 11983712 12217961	GWAS catalog
ALG2-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011933	ALG2	Causal	—	GenCC
ALG3-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0010998	ALG3	Causal	—	GenCC
ALG6-CONGENITAL DISORDER OF GLYCOSYLATION 1C	MONDO:0011291	ALG6	Causal	—	GenCC
ALG8-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011969	ALG8	Unknown	—	GenCC
ALG9-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012117	ALG9	Unknown	—	GenCC
B3GALT6-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0100586	B3GALT6	Unknown	23664117 23664118 25149931 28649518 29230159 29443383 33363150 34529350	ClinGen GWAS catalog
B4GALT1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0011772	B4GALT1	Causal	11901181 21920538 32157688	ClinVar GWAS catalog
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
COG1-CDG	263508	COG1	Unknown	20301507	Orphanet
COG1-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012637	COG1	Unknown	—	ClinGen GenCC
COG2-CDG	435934	COG2	Unknown	24784932	Orphanet
COG2-RELATED CONGENITAL DISORDER OF GLYCOSYLATION	C4479353	COG2	Unknown	—	Disgenet
COG4-CDG	263501	COG4	Unknown	20301507	Orphanet
COG4-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013281	COG4	Causal	—	ClinGen ClinVar GenCC
COG5 CONGENITAL DISORDER OF GLYCOSYLATION	C3150876	COG5	Unknown	—	Disgenet
		DUS4L	Unknown	—	Disgenet
		DUS4L-BCAP29	Unknown	—	Disgenet
		HBP1	Unknown	—	Disgenet
COG5-CDG	263487	COG5	Unknown	20301507	Orphanet
COG5-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013325	COG5	Causal	11980916 19690088 23228021 28960046 31572517 32174980	ClinGen ClinVar GWAS catalog
COG6-CGD	464443	COG6	Unknown	23430903 26260076	Orphanet
COG6-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0013810	COG6	Causal	20605848 21421995 23430903 23606727 26260076 27066481 32683677 33394555 35068072 38278647	CTD ClinGen ClinVar
COG7 CONGENITAL DISORDER OF GLYCOSYLATION		COG7	Causal	—	ClinVar
COG7-CDG	79333	COG7	Unknown	20301507	Orphanet
COG7-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012118	COG7	Unknown	—	ClinGen GenCC
COG8-CDG	95428	COG8	Unknown	17331980	Orphanet
COG8-CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0012635	COG8	Causal	17220172 17331980 173319800 23806237	ClinVar GWAS catalog
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4 CONGENITAL DISORDER OF GLYCOSYLATION	C4303552	COG4	Unknown	—	Disgenet
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6-CONGENITAL DISORDER OF GLYCOSYLATION	C3553230	COG6	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0015286ORPHA137	ALG13	Causal	—	ClinVar
		MAGT1	Causal	—	ClinVar
		PGM1	Causal	—	ClinVar
		SSR3	Causal	30945312	GenCC
		ALG10	Unknown	33798445 9597543	ClinGen GWAS catalog
		ALG14	Unknown	16100110 23404334 28733338 30221345 33751823 34908252 34971077	ClinGen Disgenet
		COG3	Unknown	15728195 16420527 20972446 21421995 29899178 37711075	ClinGen GWAS catalog
		DDOST	Unknown	—	ClinVar
		DPM2	Unknown	—	ClinVar
		FAM20B	Unknown	19473117 21901110 27405802 30105814 30847897	ClinGen Disgenet
		GFUS	Unknown	12186857 34468083	ClinGen GWAS catalog
		MAN2A2	Unknown	—	ClinGen
		POFUT1	Unknown	—	ClinGen
		SSR4	Unknown	—	ClinVar

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Congenital disorder of glycosylation