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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 **1801 - 1825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0070516	Mitchell syndrome	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	PIG-A	37020	Drosophila melanogaster (fruit fly)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	PIG-A	37020	Drosophila melanogaster (fruit fly)
DOID:438	autoimmune disease of the nervous system	aldoca aldocb	369193 792692	Danio rerio (zebrafish)
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	aldoca aldocb parp1	369193 560788 792692	Danio rerio (zebrafish)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	aldoca aldocb foxo1a plod3 rgn	369193 403070 556077 768121 792692	Danio rerio (zebrafish)
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	Dolk	36856	Drosophila melanogaster (fruit fly)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	dpy19l1l	368327	Danio rerio (zebrafish)
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050559	Fukuyama congenital muscular dystrophy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:3429	inclusion body myositis	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	CG15651 CG3253 Dg rt	36773 37375 37861 39297	Drosophila melanogaster (fruit fly)
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	367562	Rattus norvegicus (Norway rat)
DOID:0050809	mucopolysaccharidosis IX	Hyal1	367166	Rattus norvegicus (Norway rat)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	367083	Rattus norvegicus (Norway rat)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	366478	Rattus norvegicus (Norway rat)
DOID:0060041	autism spectrum disorder	aralar1 sfl ttv	36614 38736 43616	Drosophila melanogaster (fruit fly)

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