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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 **4151 - 4175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	W03G11.3	189173	Caenorhabditis elegans
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	Pnp Umps	18950 22247	Mus musculus (house mouse)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	sqv-6	190099	Caenorhabditis elegans
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	sqv-6	190099	Caenorhabditis elegans
DOID:9427	hypertensive encephalopathy	Ppara	19013	Mus musculus (house mouse)
DOID:1184	nephrotic syndrome	Coq2 Ppargc1a	19017 71883	Mus musculus (house mouse)
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ppargc1a	19017	Mus musculus (house mouse)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	19017	Mus musculus (house mouse)
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	Ppargc1a	19017	Mus musculus (house mouse)
DOID:10376	amblyopia Aliases: lazy eye	Ppargc1a	19017	Mus musculus (house mouse)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	algn-7	190436	Caenorhabditis elegans
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	algn-7	190436	Caenorhabditis elegans
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	19046	Mus musculus (house mouse)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	bre-4	190668	Caenorhabditis elegans
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	bre-4	190668	Caenorhabditis elegans
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	bre-4	190668	Caenorhabditis elegans
DOID:28	endocrine system disease	bre-4	190668	Caenorhabditis elegans
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	dpy-19	191628	Caenorhabditis elegans
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	Akt1 Akt2 Atp1a2 Comt Gsto2 Htr2a Igf2 Ppp1r3b Ppp1r3c St6gal1	192280 24185 24212 24267 24483 25197 25233 29595 309465 309513	Rattus norvegicus (Norway rat)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Oas1a Tlr4	192281 29260	Rattus norvegicus (Norway rat)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	sarm1 tpi1a tpi1b	192309 403143 560753	Danio rerio (zebrafish)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)

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