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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 **1001 - 1025** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	GPX3	2878	Homo sapiens (human)
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5	240	Homo sapiens (human)
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	PTGS2	5743	Homo sapiens (human)
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)
DOID:0080855	Parkinsonism	ABAT BAD COMT ENO2 GBA1 GFRA1 GFRA2 GSK3A KCNJ11 PTGS2	1312 18 2026 2629 2674 2675 2931 3767 572 5743	Homo sapiens (human)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)
DOID:0080899	lung pleomorphic carcinoma	SLC3A2	6520	Homo sapiens (human)
DOID:0080909	castration-resistant prostate carcinoma	AKR1C3	8644	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)
DOID:0080941	acquired angioedema	XPNPEP2	7512	Homo sapiens (human)
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)
DOID:0080998	acute necrotizing pancreatitis	ICAM1 PDX1 SELP TBXAS1 TLR2 TLR4	3383 3651 6403 6916 7097 7099	Homo sapiens (human)
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT ICAM1 TNF	3383 7124 847	Homo sapiens (human)
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)

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