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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 **2751 - 2775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	498332	Rattus norvegicus (Norway rat)	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:0070241	primary coenzyme Q10 deficiency 4 Aliases: COQ10D4 SCAR9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9	Coq8a	360887	Rattus norvegicus (Norway rat)	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	67914	Mus musculus (house mouse)	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	13726	Mus musculus (house mouse)	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	16905 16906 16907	Mus musculus (house mouse)	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	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmnb1	116685	Rattus norvegicus (Norway rat)	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	64009	Mus musculus (house mouse)	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	Msp300	3771968	Drosophila melanogaster (fruit fly)	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	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Syne2	319565	Mus musculus (house mouse)	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	217664	Mus musculus (house mouse)	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	gly-20	179562	Caenorhabditis elegans	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	94273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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