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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 **651 - 675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
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)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	Mtap Tymp	66902 72962	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)	DisGeNET
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)	DisGeNET
DOID:10579	leukodystrophy	Acer3	66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)	DisGeNET
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)	Alliance of Genome Resources
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)	DisGeNET
DOID:96	staphyloenterotoxemia Aliases: Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis	SFTPA1	653509	Homo sapiens (human)	DisGeNET
DOID:0080899	lung pleomorphic carcinoma	SLC3A2	6520	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)	DisGeNET
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)	DisGeNET
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfkm	65152	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)	DisGeNET
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1galt1	65044	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)	Alliance of Genome Resources

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