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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 **3701 - 3725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	GFPT1	2673	Homo sapiens (human)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1 PLOD3	2678 8985	Homo sapiens (human)
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	GGT1	2678	Homo sapiens (human)
DOID:0070230	benign recurrent intrahepatic cholestasis Aliases: BRIC Summerskill-Walshe-Tygstrup syndrome	GGT1	2678	Homo sapiens (human)
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1	2678	Homo sapiens (human)
DOID:6581	breast apocrine carcinoma	GGT1	2678	Homo sapiens (human)
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	GHRL	51738	Homo sapiens (human)
DOID:0060427	chromosome Xp21 deletion syndrome Aliases: Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21	GK IL1RAPL1	11141 2710	Homo sapiens (human)
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	GK	2710	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)
DOID:11589	Riley-Day syndrome Aliases: HSAN III familial autonomic nervous dysfunction familial dysautonomia	GLA HMGCS2 ICAM1 SPTLC1	10558 2717 3158 3383	Homo sapiens (human)
DOID:9240	erythromelalgia Aliases: erythermalgia	GLA PGP PTGS1	2717 283871 5742	Homo sapiens (human)
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	GLA PKD1 SLC2A10 SMPDL3B	2717 27293 5310 81031	Homo sapiens (human)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GLB1 GM2A HEXA HEXB HEXD OGA UGT8	10724 2720 2760 284004 3073 3074 7368	Homo sapiens (human)
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GLB1 GNPTAB GNPTG NAGPA OGA	10724 2720 51172 79158 84572	Homo sapiens (human)
DOID:2368	gangliosidosis	GLB1 HEXA HEXB OGA PNP	10724 2720 3073 3074 4860	Homo sapiens (human)
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	GLB1 KL PLAUR	2720 5329 9365	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	GLB1 SMPD1	2720 6609	Homo sapiens (human)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)

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