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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 **226 - 250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	pomt2.L	108698684	Xenopus laevis (African clawed frog)
DOID:0110443	dilated cardiomyopathy 1B	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2.L	431874	Xenopus laevis (African clawed frog)
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	ogdh.S	399021	Xenopus laevis (African clawed frog)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst6.L chst6.S	108715440 444431	Xenopus laevis (African clawed frog)
DOID:83	cataract	gcnt2.2.L gcnt2.2.S	432177 432275	Xenopus laevis (African clawed frog)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	pomt1.S	108699937	Xenopus laevis (African clawed frog)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	hs6st1.L hs6st1.S	108717161 373566	Xenopus laevis (African clawed frog)
DOID:0050571	congenital disorder of glycosylation type II	edem3.L galnt2.L galnt2.S	101027298 108716128 443907	Xenopus laevis (African clawed frog)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galc.L	446948	Xenopus laevis (African clawed frog)
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	pomt2.L	108698684	Xenopus laevis (African clawed frog)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	dhtkd1.L	403360	Xenopus laevis (African clawed frog)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1.L	108696438	Xenopus laevis (African clawed frog)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn.S	495324	Xenopus laevis (African clawed frog)
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.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ext1.L ext1.S	398214 399115	Xenopus laevis (African clawed frog)
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	b4gat1.L	108713949	Xenopus laevis (African clawed frog)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)

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