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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 **26 - 50** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050775	schneckenbecken dysplasia	SLC35D1	23169	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050648	atelosteogenesis	FLNB SLC26A2	1836 2317	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CHST6	4166	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	CACNA1C CACNA1D CACNA1F CACNA1S CAPN1 CAPN3 CTNNAL1 CTSS DAG1 DMD DRP2 DTNA EML3 EML4 ITGA7 KCNMA1 KCNU1 NOS1 PLA2G6 SLC6A14 SLC6A5 SNTB2 SNTG2 UTRN	11254 1520 157855 1605 1756 1821 1837 256364 27436 3679 3778 4842 54221 6645 7402 775 776 778 779 823 825 8398 8727 9152	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
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	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
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	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
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	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	DAG1 FKTN	1605 2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4GAT1 COL4A1 CRPPA FKRP FKTN POMGNT1 POMT1 POMT2 RXYLT1	10329 10585 11041 1282 2218 29954 55624 729920 79147	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
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	55624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111397	congenital dyserythropoietic anemia type Ib Aliases: CDA, type Ib CDAN1B	SEC23B	10483	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CDAN1 DIAPH3 MAN2A1 RACGAP1 SEC23B	10483 146059 29127 4124 81624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111399	congenital dyserythropoietic anemia type III Aliases: CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis	KIF23 SEC23B	10483 9493	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6V0A2	23545	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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