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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 **4226 - 4250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
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:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	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: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: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 Pdha2 Pdhb	117098 289950 81654	Rattus norvegicus (Norway rat)
DOID:3650	lactic acidosis	Dlat Pygl	64035 81654	Rattus norvegicus (Norway rat)
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:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	13478	Mus musculus (house mouse)
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: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:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	300668	Rattus norvegicus (Norway rat)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	13480	Mus musculus (house mouse)
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	35240	Drosophila melanogaster (fruit fly)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	13481	Mus musculus (house mouse)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	29640	Rattus norvegicus (Norway rat)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	8674033	Drosophila melanogaster (fruit fly)
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	Dpm3	3885575	Drosophila melanogaster (fruit fly)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	300461	Rattus norvegicus (Norway rat)
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	320752	Mus musculus (house mouse)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	Dysf Fkrp Myof	226101 243853 26903	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:11720	distal myopathy Aliases: distal muscular dystrophy	Dysf	26903	Mus musculus (house mouse)

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