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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 **6376 - 6400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	Mutyh	70603	Mus musculus (house mouse)
DOID:0111187	distal myopathy with anterior tibial onset Aliases: DMAT distal muscular dystrophy with anterior tibial onset	Dysf	26903	Mus musculus (house mouse)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	Adipoq Kl Lep Rgn	11450 16591 16846 19733	Mus musculus (house mouse)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	18627	Mus musculus (house mouse)
DOID:633	myositis Aliases: Inflammatory disorder of muscle	Tnf	21926	Mus musculus (house mouse)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	18609	Mus musculus (house mouse)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Pik3r1	18708	Mus musculus (house mouse)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	217734 99011	Mus musculus (house mouse)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	Tlr4	21898	Mus musculus (house mouse)
DOID:0050908	myelodysplastic syndrome	Idh1 Tnf Trp53	15926 21926 22059	Mus musculus (house mouse)
DOID:0080176	meningococcal meningitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	Braf	109880	Mus musculus (house mouse)
DOID:28	endocrine system disease	B4galt1	14595	Mus musculus (house mouse)
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)
DOID:0050575	D-2-hydroxyglutaric aciduria	Idh1	15926	Mus musculus (house mouse)
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	Comt Htr2a Npy1r	12846 15558 18166	Mus musculus (house mouse)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2	545291	Mus musculus (house mouse)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	Mpi Taldo1 Tpi1	110119 21351 21991	Mus musculus (house mouse)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Adipoq Akr1b1 Akt1 Fuca1 Gapdh Ins1 Ins2 Pdx1 Pgf Ppargc1a Rbp4 Tlr4 Tnf	11450 11651 11677 14433 16333 16334 18609 18654 19017 19662 21898 21926 71665	Mus musculus (house mouse)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	Atp1a2	98660	Mus musculus (house mouse)
DOID:576	proteinuria	Lepr Mgat5	107895 16847	Mus musculus (house mouse)

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