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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 **9226 - 9250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3 ncr-1 ncr-2	174131 176165 176879 180719 181323	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PC	5091	Homo sapiens (human)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	Dll4 Kdr Notch1	25496 25589 311332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	Acsl3 Gdi1 Iqsec2	14567 245666 74205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111968	immunodeficiency 41 Aliases: CD25 deficiency IL2RA deficiency IMD41 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency interleukin-2 receptor alpha chain deficiency	Il2ra	16184	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	Adam10 Adgrb1 Akt1 Akt2 Antxr1 Bambi Ces1c Ces1d Ctnnb1 Cxcr4 Dcc Erbb4 Esr2 F7 Fasn Galnt12 Gclc Grin2a Hfe Hk1 Kdr L1cam Mmp2 Mmp9 Nfe2l2 Notch1 Notch3 Ntrk3 Pdgfrl Pik3ca Pik3r1 Ramp2 Ramp3 Serpina1 Shh Smo Stim1 Tgfb1 Tgfb2 Tgfb3 Tgfbr1 Tp53 Ttr Vegfa	113902 170911 24185 24346 24409 24648 24842 24856 25058 25149 25233 25273 25283 25311 25496 25513 25589 25717 260320 290771 29199 29499 29591 29613 29650 313233 361618 362393 362931 50671 50687 56761 56820 58966 59086 59323 60628 81686 81687 81809 83619 83785 83837 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Abcc8 Gck	103988 20927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	Cd40lg Crp Pf4 Plat Proc	25268 25419 25692 360918 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	chrne.L	386670	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4810	cerebrotendinous xanthomatosis Aliases: Cholestanol storage disease	CYP27A1	1593	Homo sapiens (human)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	cacna1c cacna1da cacna1fb cacna1sa cacna1sb	170581 403310 405791 559964 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9775	diastolic heart failure	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:687	hepatoblastoma	Cdh1 Ctnnb1 Dpep1 Fas Gpc3 Mki67 Sall4 Smo	12387 12550 13479 14102 14734 17345 319757 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	Scn3a	497770	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	Acan Adam12 Adamts5 Ager Aspn Atp7a Bad Bag6 Bax Bmp2 Bmp7 Bmpr1a Casp9 Ccr4 Cd36 Cilp Col11a1 Col2a1 Ddr2 Efemp2 Egr1 Enpp1 Errfi1 Esr1 Esr2 Fcgr2b Fcgr3 Fgfr1 Flt1 Fn1 Frzb Gdf5 Ghr Hbp1 Hfe Igf1r Igf2 Igfbp3 Ihh Il1a Il4ra Il5 Ins1 Ins2 Jag1 Lep Matn3 Mmp13 Mmp1a Mmp2 Mmp8 Mmp9 Myl3 Ncor2 Ngf Pecam1 Pik3r1 Pomc Ptgs2 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Tgfbr1 Tnfrsf10b Tnfrsf11b Tnfsf10	11489 11595 11596 11977 12015 12028 12156 12162 12166 12371 12491 12773 12814 12824 13653 13982 13983 14130 14131 14182 14254 14268 14563 14600 15216 16001 16002 16009 16147 16175 16190 16191 16333 16334 16449 16846 17182 17386 17390 17394 17395 17897 18049 18214 18383 18605 18613 18708 18976 19225 20378 20602 20700 20701 20702 20703 20704 214425 21812 21933 22035 224727 23794 58859 66695 73389 74155 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ace2.L ace2.S ins.L ins.S ngf.S	100037182 108707435 108709389 378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	Prkag2	108099	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10159	osteonecrosis Aliases: Avascular necrosis of bone aseptic necrosis bone necrosis	A2m Col2a1 Nos3 Plat Proc Tfpi	24153 24600 25268 25412 25692 29436	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	GDNF GFRA1 IL5 STAT3 VTN	2668 2674 3567 6774 7448	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glct.L b3glct.S	100127336 108709947	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	Adam10	29650	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	Cntn1	117258	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	cdh5	445471	Danio rerio (zebrafish)	Alliance of Genome Resources

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