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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6076 - 6100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)
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	361272	Rattus norvegicus (Norway rat)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	361272	Rattus norvegicus (Norway rat)
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	361368	Rattus norvegicus (Norway rat)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	361368	Rattus norvegicus (Norway rat)
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	361368	Rattus norvegicus (Norway rat)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	362031	Rattus norvegicus (Norway rat)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Wdr5	362093	Rattus norvegicus (Norway rat)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110443	dilated cardiomyopathy 1B	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	Alg6	362547	Rattus norvegicus (Norway rat)
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	362567 688673 84430	Rattus norvegicus (Norway rat)
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	362567	Rattus norvegicus (Norway rat)
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	362567	Rattus norvegicus (Norway rat)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	362567	Rattus norvegicus (Norway rat)
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	Ptges3	362809	Rattus norvegicus (Norway rat)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)

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