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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6976 - 7000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	Gnai1 Gnai2 Gnai3 Gnao1 Igfbp3	14677 14678 14679 14681 16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	Gnai2	14678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090055	dystonia 25	Gnal	14680	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	Gnao1 Idh3a Scn8a Stxbp1	14681 20273 20910 67834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080450	developmental and epileptic encephalopathy 17 Aliases: DEE17 early infantile epileptic encephalopathy 17	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4184	pseudohypoparathyroidism	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	Gnb1	14688	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3659	sialuria	Gne Slc17a5	114711 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:3659	sialuria	Gne Slc17a5	235504 50798	Mus musculus (house mouse)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0080488	mucolipidosis	Gnptab Neu1	18010 432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources

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