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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **851 - 875** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	COQ9	57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	EMD	2010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	SYNE2	23224	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6 Aliases: EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	MGAT2	4247	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	MOGS	7841	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	GMDS SLC35C1	2762 55343	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1	2683	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)	Alliance of Genome Resources

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