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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 **4651 - 4675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
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:1866	giant cell reparative granuloma Aliases: central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw	GLB1	2720	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)
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:2957	pulmonary tuberculosis	GLC3	856705	Saccharomyces cerevisiae S288C
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GLG1 GLG2	853304 853932	Saccharomyces cerevisiae S288C
DOID:2747	glycogen storage disease Aliases: glycogenosis	GLG1 GPH1 GSY1 GSY2 PFK1 PFK2	850569 850962 853155 853932 855245 856289	Saccharomyces cerevisiae S288C
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GLK1	850317	Saccharomyces cerevisiae S288C
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	GLO1	855009	Saccharomyces cerevisiae S288C
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	GLO1	855009	Saccharomyces cerevisiae S288C
DOID:178	vascular disease Aliases: vascular tissue disease	GLO1	855009	Saccharomyces cerevisiae S288C
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)
DOID:0111164	molybdenum cofactor deficiency type A Aliases: MOCOD type A MOCODA combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A molybdenum cofactor deficiency complementation group A	GLUL PNP	2752 4860	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	GMPPA SGPL1	29926 8879	Homo sapiens (human)
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)

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