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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 **7226 - 7250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2 Pmm1 Pmm2	16002 29858 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2	24483	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	BRAF	673	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Acer3 Cpt1a Lepr Pck1 Tnf	12894 16847 18534 21926 66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 CPT1A CYP27A1 CYP7A1 LEPR PCK1 SCD SPHK2 TNF	1374 1581 1593 31 3953 5105 55331 56848 6319 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Cpt1a Lepr Pck1 Tnf	24536 24835 25757 362282	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Pepck1	37131	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	YDC1 YPC1	852481 856018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Htr2a	15558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Htr2a	29595	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	324052	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1.L c1galt1c1.S	108700090 495031	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	CG34057	3885645	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	302499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources

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