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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 **7301 - 7325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	CAT PTDSS1 SULT1E1 VCAM1	6783 7412 847 9791	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)
DOID:5850	inferior myocardial infarction	SULT1E1	6783	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	67863	Mus musculus (house mouse)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	Dcxr	67880	Mus musculus (house mouse)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	68273	Mus musculus (house mouse)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3b	68292	Mus musculus (house mouse)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	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:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st6	684979	Rattus norvegicus (Norway rat)
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	688673 84430	Rattus norvegicus (Norway rat)
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	688673	Rattus norvegicus (Norway rat)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	Pomt2	688673	Rattus norvegicus (Norway rat)
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	688673	Rattus norvegicus (Norway rat)
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT TALDO1	6888 847	Homo sapiens (human)
DOID:271	hemangioma of liver Aliases: Angioma of Liver hepatic angioma	TALDO1	6888	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	68961	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	689765	Rattus norvegicus (Norway rat)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)

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