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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 **4951 - 4975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	245960	Rattus norvegicus (Norway rat)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10	245960	Rattus norvegicus (Norway rat)
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Fktn	246179	Mus musculus (house mouse)
DOID:0110443	dilated cardiomyopathy 1B	Fktn	246179	Mus musculus (house mouse)
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	246179	Mus musculus (house mouse)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	246179	Mus musculus (house mouse)
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	Fktn	246179	Mus musculus (house mouse)
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	246179	Mus musculus (house mouse)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	24644	Rattus norvegicus (Norway rat)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Pklr Tnf	24651 24835	Rattus norvegicus (Norway rat)
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	Pklr	24651	Rattus norvegicus (Norway rat)
DOID:9256	colorectal cancer	Axn Calr Hex-t2 N Pgant9	246627 31293 41166 43191 43565	Drosophila melanogaster (fruit fly)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	ALPI ALPP CACNA2D2 CANX NPY1R PDIA3 PIGO PLCB4 SLC2A1	248 250 2923 4886 5332 6513 821 84720 9254	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	Adrb1 Tlr4 Tnf Tp53	24835 24842 24925 29260	Rattus norvegicus (Norway rat)
DOID:9538	multiple myeloma Aliases: myeloma	Chi3l1 Hk1 Tnf Tp53	24835 24842 25058 89824	Rattus norvegicus (Norway rat)
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	Ogg1 Tlr4 Tnf Tp53	24835 24842 29260 81528	Rattus norvegicus (Norway rat)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Tlr4 Tnf Tp53	24835 24842 29260	Rattus norvegicus (Norway rat)
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	Ogg1 Tnf Tp53	24835 24842 81528	Rattus norvegicus (Norway rat)
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Gsk3b Tnf Tp53	24835 24842 84027	Rattus norvegicus (Norway rat)
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	Chi3l1 Tnf Tp53	24835 24842 89824	Rattus norvegicus (Norway rat)
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	Pgf Tnf Ugt1a1	24835 24861 94203	Rattus norvegicus (Norway rat)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Adrb1 Gclc Lep Ppara Tlr4 Tnf	24835 24925 25283 25608 25747 29260	Rattus norvegicus (Norway rat)

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