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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 **226 - 250** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:0111619	combined D-2- and L-2-hydroxyglutaric aciduria Aliases: D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria combined D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria	SLC25A1	6576	Homo sapiens (human)
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	SFTPA1	653509	Homo sapiens (human)
DOID:96	staphyloenterotoxemia Aliases: Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis	SFTPA1	653509	Homo sapiens (human)
DOID:0080899	lung pleomorphic carcinoma	SLC3A2	6520	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)
DOID:0070034	autosomal dominant intellectual developmental disorder 4 Aliases: MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4	ST3GAL4	6484	Homo sapiens (human)
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A	64581	Homo sapiens (human)
DOID:1562	chromoblastomycosis Aliases: Chromomycosis Mossy foot disease	CLEC7A	64581	Homo sapiens (human)
DOID:4336	tinea favosa Aliases: favus	CLEC6A CLEC7A	64581 93978	Homo sapiens (human)
DOID:1563	dermatomycosis	CLEC6A CLEC7A	64581 93978	Homo sapiens (human)
DOID:0060311	adenoid hypertrophy Aliases: adenoidal hypertrophy enlarged adenoids	SFTPA1 SFTPA2 SFTPD	6441 653509 729238	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)

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