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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 **5351 - 5375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:11693	acute apical periodontitis Aliases: acute apical periodontitis of pulpal origin	LGALS3	3958	Homo sapiens (human)
DOID:6482	lung acinar adenocarcinoma Aliases: acinar adenocarcinoma of the lung	LGALS4 TNKS	3960 8658	Homo sapiens (human)
DOID:4337	tinea capitis Aliases: Scalp ringworm Trichophyton rubrum tinea capitis dermatophytosis of scalp or beard tinea capitis due to Trichophyton rubrum	LGALS4	3960	Homo sapiens (human)
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)
DOID:14308	skin epithelioid hemangioma Aliases: Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin	LGALS9 SMUG1	23583 3965	Homo sapiens (human)
DOID:4784	immune-complex glomerulonephritis Aliases: Immune Complex Glomerulonephritis	LGALS9	3965	Homo sapiens (human)
DOID:0060911	karyomegalic interstitial nephritis Aliases: KIN KMIN	LIPA	3988	Homo sapiens (human)
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	LManII	34437	Drosophila melanogaster (fruit fly)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	LOC108715547	108715547	Xenopus laevis (African clawed frog)
DOID:0110387	retinitis pigmentosa 9 Aliases: RP9	LPIN1	23175	Homo sapiens (human)
DOID:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)

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