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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 **6151 - 6175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	LOC108715547	108715547	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:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14.L alg14.S	108714370 108715652	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:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1.L chsy1.S	108711484 108712816	Xenopus laevis (African clawed frog)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12.L	108711164	Xenopus laevis (African clawed frog)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3.L	108711051	Xenopus laevis (African clawed frog)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1.L ndst1.S	108710821 443855	Xenopus laevis (African clawed frog)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11.L alg11.S	108709929 733388	Xenopus laevis (African clawed frog)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1.L b4galnt1.S	108709867 379299	Xenopus laevis (African clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4.L	108708472	Xenopus laevis (African clawed frog)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga.L	108707921	Xenopus laevis (African clawed frog)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga.L	108707921	Xenopus laevis (African clawed frog)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1.L large1.S	108704366 108712551	Xenopus laevis (African clawed frog)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	large1.L large1.S	108704366 108712551	Xenopus laevis (African clawed frog)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1.L xylt1.S	108703114 444363	Xenopus laevis (African clawed frog)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ins.L ins.S xylt1.L xylt1.S	108703114 378695 378696 444363	Xenopus laevis (African clawed frog)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6.L hs3st6.S	108701670 108703226	Xenopus laevis (African clawed frog)
DOID:1324	lung cancer	hs3st2.L hs3st2.S	108701605 108703165	Xenopus laevis (African clawed frog)

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