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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 **7276 - 7300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
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:0080899	lung pleomorphic carcinoma	SLC3A2	6520	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: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:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:10579	leukodystrophy	Acer3	66190	Mus musculus (house mouse)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	Mtap Tymp	66902 72962	Mus musculus (house mouse)
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	Mtap	66902	Mus musculus (house mouse)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	Mtap	66902	Mus musculus (house mouse)
DOID:12179	tinea corporis Aliases: Dermatophytosis of the trunk dermatophytosis of the body	SQLE	6713	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	BRAF	673	Homo sapiens (human)
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	BRAF	673	Homo sapiens (human)
DOID:6846	familial melanoma	BRAF	673	Homo sapiens (human)
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13	67574	Mus musculus (house mouse)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Dgat2	67800	Mus musculus (house mouse)
DOID:3274	proliferative type fibrocystic change of breast Aliases: Fibrocystic change, proliferative type with atypia Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change	SULT1E1 TPI1	6783 7167	Homo sapiens (human)

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