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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 **1851 - 1875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0050559	Fukuyama congenital muscular dystrophy	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:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110443	dilated cardiomyopathy 1B	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: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:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	362031	Rattus norvegicus (Norway rat)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Idh2	361596	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: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: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:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	361174	Rattus norvegicus (Norway rat)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	360975	Rattus norvegicus (Norway rat)
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	Ogdh	360975	Rattus norvegicus (Norway rat)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	360604	Rattus norvegicus (Norway rat)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfk	36060	Drosophila melanogaster (fruit fly)
DOID:0014667	disease of metabolism Aliases: metabolic disease	Ldh Pfk PyK	36060 42620 45880	Drosophila melanogaster (fruit fly)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	360475	Rattus norvegicus (Norway rat)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Pgi	35886	Drosophila melanogaster (fruit fly)

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