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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 **701 - 725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
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	bgnt-1.4 bgnt-1.5	182795 3565692	Caenorhabditis elegans
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	beta4GalT7	42991	Drosophila melanogaster (fruit fly)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)
DOID:28	endocrine system disease	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
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: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	101669768	Danio rerio (zebrafish)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100006345 101669768 557187 563878 569769 571426 571876	Danio rerio (zebrafish)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	b4gat1 fkrp fktn large1 pomgnt1 pomt1	100006345 101669768 446213 569769 571426 571876	Danio rerio (zebrafish)
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	100170600	Xenopus tropicalis (tropical clawed frog)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100124956 100145309 100145540 100158594 100170600 100490100 448433	Xenopus tropicalis (tropical clawed frog)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	b4gat1 fkrp fktn large1 pomgnt1 pomt1	100124956 100145309 100158594 100170600 100498555 448433	Xenopus tropicalis (tropical 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:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	445022	Danio rerio (zebrafish)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	100144979	Xenopus tropicalis (tropical clawed frog)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5.L b4galt5.S b4galt6.L b4galt6.S	108695277 108702589 446703 779435	Xenopus laevis (African clawed frog)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5 b4galt6	393912 724080	Danio rerio (zebrafish)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5 b4galt6	548965 549139	Xenopus tropicalis (tropical 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: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:28	endocrine system disease	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)

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