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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 **8976 - 9000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
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:0090055	dystonia 25	Gnal	14680	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: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:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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: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:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Glys	41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Glys Pdfr Pxn	31234 38326 41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Glyp	33386	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	GlyT	37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	GlyT	37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	GlyT otk	36283 37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:255	hemangioma	Glut1	38109	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	Glut1	38109	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	Glut1	38109	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	Glut1	38109	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090044	dystonia 9	Glut1	38109	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	Glut1 btl htl	38109 39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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