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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 **7451 - 7475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	16514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	103988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	24385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070199	Miyoshi muscular dystrophy 1 Aliases: MMD1 Miyoshi myopathy 1	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	Smpd1	20597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	GPX1	2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	gba-3 gba-4	177314 178535	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	18605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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	22256	Mus musculus (house mouse)	Alliance of Genome Resources

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