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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15326 - 15350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080365	endometrial hyperplasia	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	Ppt1	31805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V Aliases: CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V	NAGLU	4669	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	CngA Hex-t1 Hex-t2 Root Sod3 btl crb eys htl ninaE	117364 36232 36806 3771890 39564 42160 42367 42860 42896 43191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	XPC	7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	SNF5	852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	Hfe	29199	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	Tfrc	22042	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	dsg2.1	560026	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080763	diffuse gastric cancer	MAP3K1	4214	Homo sapiens (human)	Alliance of Genome Resources
DOID:4257	Caffey disease Aliases: cortical congenital hyperostosis infantile cortical hyperostosis	COL1A1	1277	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ATP6AP2 Alg1 Alg3 Pmm2 beta4GalNAcTA	36585 37754 39436 41104 42146	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060581	Noonan syndrome 3 Aliases: NS3	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:8463	corneal ulcer	IL6 MUC5AC TNF	3569 4586 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050436	mulibrey nanism Aliases: MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome	TRIM37	4591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	C53D5.5 T03D8.6	171619 180364	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111015	Newfoundland cone-rod dystrophy Aliases: NFRCD	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	Agt Agtr2 Atf2	24179 24182 81647	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111744	cerebellar ataxia type 41 Aliases: SCA41	Trpc3	22065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	Atp6ap1	54411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111406	Fraser syndrome 3 Aliases: FRASRS3	Grip1	74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	Acvrl1 Eng Flt1 Kdr Kras Lemd3 Notch4 Sars1 Vegfa	11482 13805 14254 16542 16653 18132 20226 22339 380664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080770	autosomal dominant beta thalassemia Aliases: inclusion body beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources

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