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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 **2551 - 2575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	CMAS GFRA1 TNFRSF10C VCAM1	2674 55907 7412 8794	Homo sapiens (human)
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	GFPT1	2673	Homo sapiens (human)
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	parp-1	266823	Caenorhabditis elegans
DOID:848	arthritis Aliases: Inflammatory disorder of joint	parp-1	266823	Caenorhabditis elegans
DOID:10952	nephritis	parp-1	266823	Caenorhabditis elegans
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	parp-1	266823	Caenorhabditis elegans
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	parp-1	266823	Caenorhabditis elegans
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	parp-1	266823	Caenorhabditis elegans
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	parp-1	266823	Caenorhabditis elegans
DOID:5199	ureteral obstruction	parp-1	266823	Caenorhabditis elegans
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	parp-1	266823	Caenorhabditis elegans
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	parp-1	266823	Caenorhabditis elegans
DOID:1074	kidney failure Aliases: renal failure	parp-1	266823	Caenorhabditis elegans
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	parp-1	266823	Caenorhabditis elegans
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a stt3b	266797 323918	Danio rerio (zebrafish)
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:12287	Crimean-Congo hemorrhagic fever Aliases: CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever	CAT ICAM1 SLC17A5	26503 3383 847	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)

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