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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 **951 - 975** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:14064	acute poststreptococcal glomerulonephritis Aliases: Post-Streptococcal Glomerulonephritis	GAPDH MBL2	2597 4153	Homo sapiens (human)
DOID:5392	acidophil adenoma Aliases: Eosinophil adenoma	GAPDH HSD11B1	2597 3290	Homo sapiens (human)
DOID:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	GANAB PKD1 PKD2	23193 5310 5311	Homo sapiens (human)
DOID:11189	pulp degeneration	GALNT3	2591	Homo sapiens (human)
DOID:5608	dental pulp calcification Aliases: pulp calcification pulp calcifications pulpal calcifications	GALNT3	2591	Homo sapiens (human)
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	GALNT3 TP53	2591 7157	Homo sapiens (human)
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	GALNT14 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PTEN TFF1	4684 5290 5291 5293 5294 5319 5320 5728 7031 79623 8398	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)
DOID:8504	impetigo	GALNS	2588	Homo sapiens (human)
DOID:8596	scarlet fever Aliases: Scarlatina	GALNS	2588	Homo sapiens (human)
DOID:12514	retinal perforation Aliases: Retinal break Retinal dialysis Retinal tear	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:9602	necrotizing fasciitis	GALNS RECK	2588 8434	Homo sapiens (human)
DOID:0110900	inflammatory bowel disease 2 Aliases: IBD2	GALM	130589	Homo sapiens (human)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	GALK1	2584	Homo sapiens (human)
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	GALK1	2584	Homo sapiens (human)
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)

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