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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 **2676 - 2700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ergic1	567774	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	56773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	Pclo	56768	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Plvap	56765	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	Notch3	56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	Notch3	56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	ANTXR1 BARHL1 KDM6A	56751 7403 84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	Nfu1	56748	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	56737	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	56737	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	Mtor	56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080330	cold-induced sweating syndrome 2	Clcf1	56708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	JPH1	56704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	kera	567017	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	kera	567017	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	kera	567017	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111981	immunodeficiency 43 Aliases: B2M deficiency IMD43 beta-2-microglobulin deficiency hypercatabolic hypoproteinemia	B2M	567	Homo sapiens (human)	Alliance of Genome Resources
DOID:640	encephalomyelitis Aliases: Encephalitis &/or myelitis	B2M SPP1	567 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	Crtap	56693	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	dpagt1	566539	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	566539	Danio rerio (zebrafish)	Alliance of Genome Resources

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