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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 **1001 - 1025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	cdh2.L	378518	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	alg3.S	100037243	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	agtr1.L	398763	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3.L chst3.S	108696269 108697511	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ins.L ins.S kit.L ncam1.L ncam1.S notch1.S panx2.L panx2.S tgfb1.L ttr.L	108710591 108712356 373579 378695 378696 394367 397761 397762 397778 397787	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	tgfb2.L	373801	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	tgfb1.L	397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	drd2.L	378584	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	tmem107.L	735183	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1.L	398423	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080404	orofacial cleft 11 Aliases: nonsyndromic cleft lip with or without cleft palate 11	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	p2rx2.L	108715297	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp.L	108698503	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4483	rhinitis	crhr1.2.S ngf.S tgfb1.L	108709389 373580 397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	cxcr4.L cxcr4.S fgf9.S	100192360 378562 380373	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	fgfr3.S	399347	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	fkrp.L	108698503	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	fzd2.S	399141	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:480	movement disease	drd2.L	378584	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	epor.L	734211	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1.S	380168	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	ace2.L ace2.S	100037182 108707435	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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