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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 **8251 - 8275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	Glud1	24399	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2959	hyperimmunoglobulin syndrome	Cd40	21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	Cybb	13058	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	Ror2	26564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	Acan Adamts4 Adamts5 Adrb3 C3 Ccl2 Ccr5 Cd244l1 Cd28 Cebpb Chi3l1 Chrna7 Crp Cx3cl1 Cxcr3 Dnase2 Esr2 Fas Fcgr2a Fcgr2al1 Fcgr2b Fcgr3a Hfe Hgf Hspd1 Ifng Igf2 Il10 Il13 Il1a Il1rn Il2 Il4r Mmp8 Mmp9 Oprm1 Pdgfb Pgf Pik3r1 Plaur Ptgs2 Slc11a1 Slc22a4 Spp1 Tnf Tnfrsf1a Vegfa Vim	116553 116562 116591 117029 171575 24232 24253 24446 24483 24493 246097 24628 24770 24835 25084 25149 25302 25325 25353 25419 25513 25601 25625 25645 25660 25712 289211 29199 29527 304135 304966 316519 498276 50692 58968 60582 63849 63868 64025 64037 66015 81687 81818 83785 84475 89808 89824 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1 Aliases: spinal muscular atrophy with lower extremity predominance 1	Dync1h1	13424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3.L	398597	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	Comt Oprk1 Oprm1	12846 18387 18390	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	Neb	17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	Grn	14824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	let-2 zmp-3	178748 181708	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	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:0080333	aortic valve disease 1	notch1.S	394367	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4031	eosinophilic gastroenteritis	IL5	3567	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	L1cam Nfasc	116690 50687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	Glud1	14661	Mus musculus (house mouse)	Alliance of Genome Resources

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