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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 **10876 - 10900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	361368	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	361368	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	Tmem231	361410	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	Tmem231	361410	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111576	dehydrated hereditary stomatocytosis 1 Aliases: PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak	Piezo1	361430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	Pld3	361527	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	Stim1	361618	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	Stim1	361618	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	Stim1	361618	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	Pnpla2	361676	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	Pnpla2	361676	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	IMPG1 IMPG2 PRPH2	3617 50939 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	Bscl2	361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	Bscl2	361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	Bscl2	361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	Tmem138	361728	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081202	autosomal recessive intellectual developmental disorder 37	Ank3	361833	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	362031	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	Creb3l1	362165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2997	Sertoli-Leydig cell tumor	INHA	3623	Homo sapiens (human)	Alliance of Genome Resources

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