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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 **3176 - 3200** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	315807	Rattus norvegicus (Norway rat)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	GPI10	852735	Saccharomyces cerevisiae S288C
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb-1	13184808	Caenorhabditis elegans
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb	393448	Danio rerio (zebrafish)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	55981	Mus musculus (house mouse)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIG-B	38446	Drosophila melanogaster (fruit fly)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	Ugp2	216558	Mus musculus (house mouse)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP1	853830	Saccharomyces cerevisiae S288C
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	sgl	38760	Drosophila melanogaster (fruit fly)
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	UGDH	7358	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	Mdh1	17449	Mus musculus (house mouse)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100150181	Danio rerio (zebrafish)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3.L	108711051	Xenopus laevis (African clawed frog)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	314785	Rattus norvegicus (Norway rat)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	237500	Mus musculus (house mouse)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100145573	Xenopus tropicalis (tropical clawed frog)
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	37401	Drosophila melanogaster (fruit fly)
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)

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