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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5001 - 5025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1l1	432367	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1b Npc2a	33072 33374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NCR1 PPN1	852063 856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3 ncr-1 ncr-2	174131 176165 176879 180719 181323	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	npc2.1	282673	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	asp-4 ppt-1	181444 191744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ppt1 Ppt2 spin	31805 34564 45380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ctsd Ppt1 Ppt2 Sod2	171293 24787 29411 54398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	napsa	336746	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ATP13A2 ATP13A3 ATP13A5 CLN3 CTSD PPT1 PPT2 SOD2 SPNS1 SPNS2	1201 124976 1509 23400 344905 5538 6648 79572 83985 9374	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Atp13a2 Atp13a3 Atp13a5 Cln3 Ctsd Ppt1 Ppt2 Sod2	12752 13033 19063 20656 224088 268878 54397 74772	Mus musculus (house mouse)	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	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	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	16889	Mus musculus (house mouse)	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	lipl-1 lipl-2 lipl-3 lipl-4 lipl-5	178563 178572 179046 179771 185840	Caenorhabditis elegans	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:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	Homo sapiens (human)	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	Acsl3	74205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	W03G11.3	189173	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca	3772574	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	Fuca1	24375	Rattus norvegicus (Norway rat)	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:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Acer Ance	34189 34805	Drosophila melanogaster (fruit fly)	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	Ace Agt Il1a Naga	24179 24310 24493 315165	Rattus norvegicus (Norway rat)	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	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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