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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **226 - 250** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080750	erythema nodosum	HLA-B LTA TNF	3106 4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070619	mitochondrial trifunctional protein deficiency 1 Aliases: MTPD1	HADHA	3030	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110013	advanced sleep phase syndrome 3 Aliases: FASPS3 familial advanced sleep phase syndrome 3	PER3	8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111944	immunodeficiency 31B Aliases: IMD31B autosomal recessive STAT1 deficiency autosomal recessive immunodeficiency 31B, mycobacterial and viral infections predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	SPNS2	124976	Homo sapiens (human)	Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	PEX3	8504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111726	geleophysic dysplasia 2 Aliases: GPHYSD2	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ADAR	103	Homo sapiens (human)	Alliance of Genome Resources
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome STAT3 Hyper IgE syndrome hyperimmunoglobulin E syndrome	STAT3	6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	INS	3630	Homo sapiens (human)	Alliance of Genome Resources

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