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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 **1526 - 1550** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	alg13	557181	Danio rerio (zebrafish)
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)
DOID:0080479	peroxisome biogenesis disorder 4A Aliases: peroxisome biogenesis disorder 4A (Zellweger)	CYP17A1	1586	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:0080482	peroxisome biogenesis disorder 7A Aliases: peroxisome biogenesis disorder 7A (Zellweger)	ACACA ACOT7 CAT GAA	11332 2548 31 847	Homo sapiens (human)
DOID:0080483	peroxisome biogenesis disorder 8A Aliases: peroxisome biogenesis disorder 8A (Zellweger)	CAT G6PD	2539 847	Homo sapiens (human)
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	AGA	175	Homo sapiens (human)
DOID:0080488	mucolipidosis	Gnptab Neu1	18010 432486	Mus musculus (house mouse)
DOID:0080488	mucolipidosis	gnptab	553365	Danio rerio (zebrafish)
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:0080491	cerebral cavernous malformation 1	ACE B3GAT1 CEACAM5 CHI3L1 CYP2B6 GLO1 ICAM1 NCAM1 PTEN PTGIS PTGS2 STS	1048 1116 1555 1636 27087 2739 3383 412 4684 5728 5740 5743	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)
DOID:0080502	GM1 gangliosidosis type 1	ARSA CHIT1 CTSA CYP2U1 GLB1 NEU1	1118 113612 2720 410 4758 5476	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:0080506	Cornelia de Lange syndrome 2	SMC3	9126	Homo sapiens (human)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	32627	Drosophila melanogaster (fruit fly)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	853371	Saccharomyces cerevisiae S288C

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