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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 **4826 - 4850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	235582	Mus musculus (house mouse)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Glyp Zw	32974 33386	Drosophila melanogaster (fruit fly)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Glyp	33386	Drosophila melanogaster (fruit fly)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Glyp	33386	Drosophila melanogaster (fruit fly)
DOID:3650	lactic acidosis	Glyp	33386	Drosophila melanogaster (fruit fly)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Glys	41823	Drosophila melanogaster (fruit fly)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Glys	41823	Drosophila melanogaster (fruit fly)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	Gm2a	14667	Mus musculus (house mouse)
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:3659	sialuria	Gne	114711	Rattus norvegicus (Norway rat)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	114711	Rattus norvegicus (Norway rat)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	50798	Mus musculus (house mouse)
DOID:3659	sialuria	Gne	50798	Mus musculus (house mouse)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	Gnmt	14711	Mus musculus (house mouse)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	Gnmt	25134	Rattus norvegicus (Norway rat)
DOID:0080488	mucolipidosis	Gnptab Neu1	18010 432486	Mus musculus (house mouse)
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	Gnptab	432486	Mus musculus (house mouse)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Neu1	18010 214505	Mus musculus (house mouse)
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	Got1 Gsk3a Gsk3b Hmgb1 Pgf Ppargc1a Sarm1	14718 15289 18654 19017 237868 56637 606496	Mus musculus (house mouse)

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