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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 **5076 - 5100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	Pld3	361527	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:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	Tmem231	361410	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: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: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:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1 Slc25a4	361368 85333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	361272	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	361272	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	361174	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	Sucla2	361071	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3275	thymoma	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	Ogdh	360975	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	360975	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	Fgfrl1	360903	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070241	primary coenzyme Q10 deficiency 4 Aliases: COQ10D4 SCAR9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9	Coq8a	360887	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080391	nephrotic syndrome type 9	Coq8a	360887	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	Coq2 Coq8a	360887 498332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	Suco	360863	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Agfg1 Spata20	360604 363266	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfk	36060	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	Hsc70-4 Ldh Octbeta2R Pfk PyK	36060 41549 41840 42620 45880	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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