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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 **13176 - 13200** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
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: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: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: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: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: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: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: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: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	71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	Tgfb3	25717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	Tgfb3	21809	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	TGFBR1	7046	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	Tgfbr1	29591	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	Tgfbr1	21812	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	daf-1 sma-6	174044 176829	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	Tgfbr2	81810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	Tgfb2	21808	Mus musculus (house mouse)	Alliance of Genome Resources

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