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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 **7701 - 7725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13405	cardiac sarcoidosis	CALR SMUG1	23583 811	Homo sapiens (human)
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	Comt	24267	Rattus norvegicus (Norway rat)
DOID:3523	brain stem infarction Aliases: Brainstem infarction	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	293667	Rattus norvegicus (Norway rat)
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	CD1D COLEC11 FCN2 MASP2 MBL2	10747 2220 4153 78989 912	Homo sapiens (human)
DOID:0080176	meningococcal meningitis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	83505	Rattus norvegicus (Norway rat)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	Aldob	230163	Mus musculus (house mouse)
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	ABO ACADS ACE ACHE ACOT7 ACSL4 ACSL6 ACSS2 ADH1B ALDH2 ALDH5A1 ALDH7A1 ALG9 ARSA ARSB ARSD B3GAT1 CACNA2D4 CALR CD22 CDH13 CHAT CHI3L1 CHPT1 CNTN4 COMT CYP27B1 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DHDDS EPM2A EXT1 G6PD GAD1 GAD2 GALNS GLUL HPGDS HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 LGALS3 MACROD2 MAG MANEA ME2 MGAT1 MICA NCAM1 NPL PAFAH1B1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PLA2G1B PLA2G4A PPT1 PRNP PTEN PTGDS PTGS2 RGMA RTN4R SDC2 SLC27A5 SMPD1 SMUG1 SPTLC1 SRGN ST3GAL1 ST8SIA2 TMTC1 VCAM1	100507436 1012 10558 10998 1103 1116 11332 123099 125 1312 140733 152330 1555 1557 1577 1594 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 27306 2752 28 3290 3339 3383 3417 3425 35 3958 4099 410 411 414 4200 4245 43 4684 501 5048 51144 51477 51763 5286 5297 5305 5319 5321 55300 5538 5552 55902 5621 56963 56994 5728 5730 5743 6383 6482 65078 6609 7412 7915 7957 79694 79796 79947 80896 811 8128 83857 8560 933 93589 9487	Homo sapiens (human)
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050580	hereditary lymphedema	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)
DOID:0050833	orotic aciduria	URA3	856692	Saccharomyces cerevisiae S288C
DOID:114	heart disease	Gpi1 Gsk3b Kat2a Kat2b Ppargc1a	14534 14751 18519 19017 56637	Mus musculus (house mouse)
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:1509	avoidant personality disorder Aliases: anxious personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Neu1	18010 214505	Mus musculus (house mouse)
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	CYP17A1 CYP19A1	1586 1588	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	CHST3	9469	Homo sapiens (human)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	446213	Danio rerio (zebrafish)
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ins	30262	Danio rerio (zebrafish)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0081183	autosomal recessive intellectual developmental disorder 7	OST3	854252	Saccharomyces cerevisiae S288C
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)

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