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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2851 - 2875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Akr1b1 Cryaa Gale Galt	11677 12954 14430 74246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	Lalba Tgfa	16770 21802	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14	450072	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	Sgce	432360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080868	primary ovarian insufficiency 11	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	ins	30262	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	kdr vegfaa	30682 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galc	779723	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110651	long QT syndrome 10 Aliases: LQT10	Scn4b	315611	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8469	influenza Aliases: Influenza with other manifestations flu influenza with non-respiratory manifestation	CD274	29126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	Rbm12	75710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	Add1	24170	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4440	seminoma Aliases: Seminoma, Pure	Fas Fasl Inha Insr Jup Kcne1 Kcnq1 Kit Kras Pcna Pdgfra Pdpn Pou5f1 Smad4 Tymp Vegfa	14102 14103 14726 16322 16337 16480 16509 16535 16590 16653 17128 18538 18595 18999 22339 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	VPS37A	137492	Homo sapiens (human)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	gyg1a gyg1b gys2	373082 406831 415152	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	Serpina3k Serpine2 Serpini1 Serpini2	20713 20714 20720 67931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Ano5 Fktn	233246 246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081152	common variable immunodeficiency 10	NFKB2	4791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	Homo sapiens (human)	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	7374	Homo sapiens (human)	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Gck Ins2	24385 24506	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Aprt	48224	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	glr-1 glr-2	175999 176204	Caenorhabditis elegans	Alliance of Genome Resources

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