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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4976 - 5000** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	Sod2	20656	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	Aoc3 Serpine1	24617 29473	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	EFEMP2 ELN FBN1	2006 2200 30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	Atp7a Efemp2	11977 58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	MANBA	4126	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	Manba	110173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	chrna1	30725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	CHRNE MYO9A SYT2	1145 127833 4649	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Pdha1	29554	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	DLAT PDHA1 PDHB PDHX PDP1	1737 5160 5162 54704 8050	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Pygl	64035	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3650	lactic acidosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PC	5091	Homo sapiens (human)	Alliance of Genome Resources
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	Ndufs4 Sdhc Sod2	17993 20656 66052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	LRPPRC ND3 ND5 NDUFS2 SDHA SURF1	10128 4537 4540 4720 6389 6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	Slc17a5	235504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	SEPTIN9	10801	Homo sapiens (human)	Alliance of Genome Resources
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	IL10 TNF	3586 7124	Homo sapiens (human)	Alliance of Genome Resources

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