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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 **6351 - 6375** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	110119	Mus musculus (house mouse)
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	300741	Rattus norvegicus (Norway rat)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	F52B11.2	178364	Caenorhabditis elegans
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2	24483	Rattus norvegicus (Norway rat)
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)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	BRAF	673	Homo sapiens (human)
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
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)
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)
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Pepck1	37131	Drosophila melanogaster (fruit fly)
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)
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	YDC1 YPC1	852481 856018	Saccharomyces cerevisiae S288C
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Htr2a	15558	Mus musculus (house mouse)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Htr2a	29595	Rattus norvegicus (Norway rat)
DOID:0080544	hyper IgM syndrome Aliases: HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)

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