Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CONGENITAL DISORDER OF GLYCOSYLATION	MONDO:0015286ORPHA137	STX5	Unknown	34711829	Disgenet
		TMEM165	Unknown	—	ClinVar
		TUSC3	Unknown	—	ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A	C0349653 MESH:C535739	ALG1	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A	C0349653 MESH:C535739	PMM2	Unknown	21539312	CTD Disgenet
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
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C	C2930997 MESH:C535741	ALG6	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1D	MESH:C535742	ALG3	Unknown	—	CTD
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1E	MESH:C535743 MONDO:0012123	DPM1	Causal	10642597 10642602	CTD ClinGen ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1EE WITH OR WITHOUT IMMUNODEFICIENCY	621140 MONDO:0976261	MAN2B2	Unknown	—	ClinVar HPO
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F	MESH:C535744	MPDU1	Unknown	—	CTD
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G	C2931001 MESH:C535745	ALG12	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G	C2931001 MESH:C535745	AP4E1	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1H	C2931002 MESH:C535746	ALG8	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1J	C2931004 MESH:C535748	DPAGT1	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1J	C2931004 MESH:C535748	HMBS	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1K	C2931005 MESH:C535749	ALG1	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1K	C2931005 MESH:C535749	EEF2KMT	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1L	C2931006 MESH:C535750	ALG9	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1L	C2931006 MESH:C535750	ATP6V0A2	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1Q	C4317224	SRD5A3	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1R	C3281084	DDOST	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1S	C4317295	ALG13	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1W	C3810062	STT3A	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X	C2931007	STT3B	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1Y	C4012395	SSR4	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A	C2931008 MESH:C535752	MGAT2	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2D	C2931009 MESH:C535753	B4GALT1	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2E	C2931010 MESH:C535754	CEP290	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2E	C2931010 MESH:C535754	COG7	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE I	MONDO:0005500	PMM2	Causal	—	GenCC
CONGENITAL DISORDER OF GLYCOSYLATION TYPE II	C5574948 MESH:C535747 MONDO:0005501	ALG2	Unknown	—	CTD Disgenet
		ATP6AP1	Unknown	11989824 22087256 27231034 28514442 29192153 29396028 32058063 32216104 33065002 34621841 36651831 36719165 37108612 7929063	ClinGen Disgenet GWAS catalog
		STX5	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIAA	C5830651	STX5	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IR		DDOST	Causal	—	ClinVar
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1	618005 C4693905 MONDO:0020775	FUT8	Causal	16236725 27008861 29304374 32049367	ClinGen ClinVar Disgenet HPO
	618005 C4693905 MONDO:0020775	FCSK	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2	618324 C5193028 MONDO:0020777	FCSK	Causal	30503518	ClinGen ClinVar Disgenet HPO Orphanet
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD	301133 MONDO:0975846	DHRSX	Unknown	—	ClinVar HPO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C	C0398739 MESH:C535755	SLC35C1	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2G	C2931011 MESH:C535756	COG1	Unknown	—	CTD Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2G	C2931011 MESH:C535756	VCF1	Unknown	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2V	619493 C5561971 MONDO:0030423	EDEM3	Causal	34143952	ClinGen ClinVar Disgenet HPO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA	212065	PMM2	Unknown	—	HPO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA	617082 C4310727 MONDO:0014904 OMIM:617082	NUS1	Causal	—	CTD ClinVar Disgenet GenCC HPO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB	602579	MPI	Unknown	—	HPO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IBB	C4693133	DHDDS	Causal	—	Disgenet
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC	603147	ALG6	Unknown	—	HPO

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Congenital disorder of glycosylation