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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 **5551 - 5575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	Akt1 Bad Il6st Mdh2 Pcna Pgf Pla2g4a	11651 12015 16195 17448 18538 18654 18783	Mus musculus (house mouse)
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:12663	blastomycosis Aliases: Blastomyces Dermatitidis Infection Blastomycotic infection Chicago disease Gilchrist's disease Infection by Blastomyces dermatitidis North American blastomycosis	CD209 CHST3 CLEC7A G6PD GPI ICAM1 LGALS3 SFTPD STS TPI1	2539 2821 30835 3383 3958 412 6441 64581 7167 9469	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	pomt2.L	108698684	Xenopus laevis (African clawed frog)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	Ogt	26295	Rattus norvegicus (Norway rat)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	Acer3 Adipoq Akr1b1 Akt1 Akt2 Aldoc Aprt G6pc1 G6pd2 G6pdx Gnmt Hprt1 Idh2 Igf2 Il18r1 Il6st Kat2b Lep Lepr Myc Neil3 Pcna Pik3ca Pik3r1 Plod3 Ppara Ppat Rgn Tlr2 Tlr4 Tnf Trp53	11450 11651 11652 11676 11677 11821 14377 14380 14381 14711 15452 16002 16182 16195 16846 16847 17869 18519 18538 18706 18708 19013 19733 21898 21926 22059 231327 234258 24088 26433 269951 66190	Mus musculus (house mouse)
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:2537	inflammatory and toxic neuropathy	Htr2a	15558	Mus musculus (house mouse)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:3222	causalgia Aliases: Complex regional pain syndrome, type II	SMUG1	23583	Homo sapiens (human)
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13	67574	Mus musculus (house mouse)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:14227	azoospermia	Ndst1 Ndst2 Ndst3 Ndst4	15531 17423 64580 83398	Mus musculus (house mouse)
DOID:12698	gynecomastia	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	G6pd Prkaa1	24377 65248	Rattus norvegicus (Norway rat)
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)
DOID:8580	obsolete malignant histiocytosis Aliases: Stewart's granuloma	ABO ANXA5 CD14 CLEC10A FCGR3B KLRD1 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 TMTC3	10462 160418 2215 28 308 3824 4069 4684 5290 5291 5293 5294 5728 6646 929	Homo sapiens (human)
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9 ATP6V0A2	23545 79796	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)

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