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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 **1926 - 1950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Bad Eno2 Kcnj11 Tnf	24334 24835 64639 83535	Rattus norvegicus (Norway rat)
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0081292	traumatic brain injury	BAD TP53	572 7157	Homo sapiens (human)
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	ABO AKT1 PTEN PTGS2 SMUG1	207 23583 28 5728 5743	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6	31926 34978 34979 34981 36868 37104	Drosophila melanogaster (fruit fly)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:3659	sialuria	Gne	50798	Mus musculus (house mouse)
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050833	orotic aciduria	URA3	856692	Saccharomyces cerevisiae S288C
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ACE ANXA5 ARSF B3GLCT CALR CD93 CHI3L1 CYP21A2 ELOVL4 FUT6 GPX3 HPGDS LIPC MASP2 PLA2G12A PNPLA2 TLR2	10747 1116 145173 1589 1636 22918 2528 27306 2878 308 3990 416 57104 6785 7097 811 81579	Homo sapiens (human)
DOID:0060322	mastoiditis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	MTAP	4507	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	594994	Xenopus tropicalis (tropical clawed frog)
DOID:3044	food allergy Aliases: food hypersensitivity	CD14 FCER2	2208 929	Homo sapiens (human)
DOID:0080899	lung pleomorphic carcinoma	SLC3A2	6520	Homo sapiens (human)
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	CD14 CYP17A1 FCGR3B IL18R1 PC PIK3CA PIK3CB PIK3CD PIK3CG SIGLEC7	1586 2215 27036 5091 5290 5291 5293 5294 8809 929	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	361368	Rattus norvegicus (Norway rat)

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