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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 **1701 - 1725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	Ung	22256	Mus musculus (house mouse)
DOID:670	amphetamine abuse	Comt Npy1r	12846 18166	Mus musculus (house mouse)
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	Igf2	16002	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	Bad	12015	Mus musculus (house mouse)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	Braf	109880	Mus musculus (house mouse)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	269941	Mus musculus (house mouse)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	16430 68292	Mus musculus (house mouse)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Acadm Adipoq Dgat2 G6pd2 G6pdx Lep Lepr Nampt Ppargc1a Sirt2 Sirt4 Sirt6 Tlr4 Tnf Ucp2	11364 11450 14380 14381 16846 16847 19017 21898 21926 22228 50721 59027 64383 67800 75387	Mus musculus (house mouse)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	230801	Mus musculus (house mouse)
DOID:4483	rhinitis	Il1rl1 Lep Tlr2 Tlr6 Tnf	16846 17082 21899 21926 24088	Mus musculus (house mouse)
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	Tnf	21926	Mus musculus (house mouse)
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	Lipa	16889	Mus musculus (house mouse)
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	11652	Mus musculus (house mouse)
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	Coq2 Lep Lepr	16846 16847 71883	Mus musculus (house mouse)
DOID:3042	allergic contact dermatitis	Tlr4	21898	Mus musculus (house mouse)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	Tnf	21926	Mus musculus (house mouse)
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	14387	Mus musculus (house mouse)
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:13088	periventricular leukomalacia	Tnf	21926	Mus musculus (house mouse)
DOID:0060178	familial hemiplegic migraine	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	381694	Mus musculus (house mouse)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	269951	Mus musculus (house mouse)

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