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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7101 - 7125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	566539	Danio rerio (zebrafish)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	56737	Mus musculus (house mouse)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	56737	Mus musculus (house mouse)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	56773	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	569494	Danio rerio (zebrafish)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1	569769	Danio rerio (zebrafish)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	569769	Danio rerio (zebrafish)
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	pomt1	569769	Danio rerio (zebrafish)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	pomt1	569769	Danio rerio (zebrafish)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)
DOID:4291	fibroepithelial basal cell carcinoma Aliases: Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor	BAAT	570	Homo sapiens (human)
DOID:0050571	congenital disorder of glycosylation type II	galnt2	570248	Danio rerio (zebrafish)
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)
DOID:1324	lung cancer	hs3st2	571246	Danio rerio (zebrafish)
DOID:219	colon cancer	hs3st2	571246	Danio rerio (zebrafish)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	571426	Danio rerio (zebrafish)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	571426	Danio rerio (zebrafish)
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp	571426	Danio rerio (zebrafish)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	fkrp	571426	Danio rerio (zebrafish)
DOID:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1	571876	Danio rerio (zebrafish)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)

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