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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 **3701 - 3725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	13481	Mus musculus (house mouse)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	35240	Drosophila melanogaster (fruit fly)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	296394	Rattus norvegicus (Norway rat)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	13480	Mus musculus (house mouse)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	300668	Rattus norvegicus (Norway rat)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	300668	Rattus norvegicus (Norway rat)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	13478	Mus musculus (house mouse)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	13478	Mus musculus (house mouse)
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	Dolk	36856	Drosophila melanogaster (fruit fly)
DOID:3650	lactic acidosis	Dlat Pygl	64035 81654	Rattus norvegicus (Norway rat)
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha2 Pdhb	117098 289950 81654	Rattus norvegicus (Norway rat)
DOID:3650	lactic acidosis	Dlat Pygl	110095 235339	Mus musculus (house mouse)
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha1 Pdha2 Pdhb	18597 18598 235339 68263	Mus musculus (house mouse)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	361272	Rattus norvegicus (Norway rat)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	361272	Rattus norvegicus (Norway rat)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	209692	Mus musculus (house mouse)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Dgat2	67800	Mus musculus (house mouse)
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	Dgat2 Kl Lepr Rbp4	16591 16847 19662 67800	Mus musculus (house mouse)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Dgat2	252900	Rattus norvegicus (Norway rat)
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	Dgat2 Kl Lepr Rbp4	24536 252900 25703 83504	Rattus norvegicus (Norway rat)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	Dgat2 G6pc1 Gck Htr2a Ins1 Ins2 Lep Ppara Ppargc1a Ucp2	24385 24505 24506 252900 25608 25634 25747 29595 54315 83516	Rattus norvegicus (Norway rat)
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050559	Fukuyama congenital muscular dystrophy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dg	36773	Drosophila melanogaster (fruit fly)

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