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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 **6476 - 6500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	SiaT	37950	Drosophila melanogaster (fruit fly)
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	Sirt6	50721	Mus musculus (house mouse)
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)
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	27376	Mus musculus (house mouse)
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	Slc25a10	27376	Mus musculus (house mouse)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	64201	Rattus norvegicus (Norway rat)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	67863	Mus musculus (house mouse)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Slc25a13	50799	Mus musculus (house mouse)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)
DOID:4137	common bile duct disease	Slc25a13	50799	Mus musculus (house mouse)
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Slc25a13	50799	Mus musculus (house mouse)
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)
DOID:9266	cystinuria	Slc3a1	20532	Mus musculus (house mouse)
DOID:9266	cystinuria	Slc3a1	29484	Rattus norvegicus (Norway rat)
DOID:0080202	adenoid cystic carcinoma	Slc3a2 Trp53	17254 22059	Mus musculus (house mouse)
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	17254	Mus musculus (house mouse)
DOID:0080202	adenoid cystic carcinoma	Slc3a2 Tp53	24842 50567	Rattus norvegicus (Norway rat)
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	50567	Rattus norvegicus (Norway rat)
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)
DOID:0070111	Niemann-Pick disease type A	Smpd1	20597	Mus musculus (house mouse)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	Smpd1	20597	Mus musculus (house mouse)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)

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