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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4226 - 4250** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	FSHR	2492	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Cacna1s Scn4a	110880 12292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	deg-1	181035	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3	10008 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	ECM1	1893	Homo sapiens (human)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	gana-1	179660	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Gla	11605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca1	71665	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ALDH3A2	224	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ppt1 spin	31805 45380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ppt2	54397	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	SOD2	6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ppt-1	191744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	ncr-1 ncr-2	176165 180719	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NCR1	856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1 Npc2 Smpd1	18145 20597 67963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NPC2 SMPD1	10577 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ATP13A3 BMPR2 KCNK3 PTGIS RYR1	3777 5740 6261 659 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	Adora2a Bmpr2 Pparg Tnfsf4 Vip	11540 12168 19016 22164 22353	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	SPP1	6696	Homo sapiens (human)	Alliance of Genome Resources

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