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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 **4451 - 4475** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)
DOID:0060311	adenoid hypertrophy Aliases: adenoidal hypertrophy enlarged adenoids	SFTPA1 SFTPA2 SFTPD	6441 653509 729238	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: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)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	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:12145	detrusor sphincter dyssynergia	SIGLEC7	27036	Homo sapiens (human)
DOID:4031	eosinophilic gastroenteritis	SIGLEC8	27181	Homo sapiens (human)
DOID:4030	eosinophilic gastritis	SIGLEC8	27181	Homo sapiens (human)
DOID:7033	anisakiasis Aliases: Infection by Anisakis larva	SIGLEC8	27181	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:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	SLC25A10	1468	Homo sapiens (human)
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	SLC25A10	1468	Homo sapiens (human)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)

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