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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 **2776 - 2800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	b3gat2.L b3gat2.S	108716933 733177	Xenopus laevis (African clawed frog)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2 kdn	31579 35105 35137 35138 35139 37420 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	PI4KA SLC25A1	5297 6576	Homo sapiens (human)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	Comt	24267	Rattus norvegicus (Norway rat)
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	ACE	1636	Homo sapiens (human)
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)
DOID:13452	scleritis	ACE TNF	1636 7124	Homo sapiens (human)
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	361368	Rattus norvegicus (Norway rat)
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	Tnf	21926	Mus musculus (house mouse)
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	ung-1	176633	Caenorhabditis elegans
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	GYS2	2998	Homo sapiens (human)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ins	30262	Danio rerio (zebrafish)
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A	64581	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3a chst3b	556800 559721	Danio rerio (zebrafish)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:1751	malignant conjunctival melanoma Aliases: Conjunctival melanoma malignant melanoma of conjunctiva	MICA PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	CD14	929	Homo sapiens (human)
DOID:326	ischemia	Akt2 Trp53	11652 22059	Mus musculus (house mouse)
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	CIT1 CIT2 CIT3 CTS2 GLC7 MDH1 MDH2 MDH3	850361 851481 851977 853777 853994 855732 856107 856870	Saccharomyces cerevisiae S288C
DOID:6498	seborrheic keratosis	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:8466	retinal degeneration Aliases: degeneration of retina	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C

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