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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 **3226 - 3250** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	17939	Mus musculus (house mouse)
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	315165	Rattus norvegicus (Norway rat)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	17939	Mus musculus (house mouse)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	NAGA	4668	Homo sapiens (human)
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	16848	Mus musculus (house mouse)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	fng	40314	Drosophila melanogaster (fruit fly)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	30158	Danio rerio (zebrafish)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	549805	Xenopus tropicalis (tropical clawed frog)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	170905	Rattus norvegicus (Norway rat)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng.L lfng.S	100036937 397855	Xenopus laevis (African clawed frog)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	pomt1 pomt2	100490100 448433	Xenopus tropicalis (tropical clawed frog)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	688673 84430	Rattus norvegicus (Norway rat)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	217734 99011	Mus musculus (house mouse)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	pomt1 pomt2	563878 569769	Danio rerio (zebrafish)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dg Gmppb rt tw	31024 36773 39297 40599	Drosophila melanogaster (fruit fly)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	Dpm3	3885575	Drosophila melanogaster (fruit fly)

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