GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9901 - 9925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	Cd40	21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C3 Ccl2 Ccr5 Cd59a Cd59b Cfb Cfh Cfhr4 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Il1rn Tlr2 Tlr4 Tnf	110557 12266 12509 12628 12774 14962 14964 14972 14990 15006 15007 15013 15015 15018 15043 16181 20296 214403 21898 21926 24088 333883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	Bbs9 Erf Fgfr2 Nell1 Nog Tcf12	13875 14183 18121 21406 319845 338352	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	Tspan7	21912	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	Adam3 Bax Fas Fasl Gapdh Kdr Ptprb Vegfa	11497 12028 14102 14103 14433 16542 19263 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	Cd163 Cd68	12514 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	Sgcb	24051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	Tor1aip1	208263	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	Adar	56417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	Ezh2 F5 Fos Jun Ptch1 Selenop Smad4 Tnfrsf1a Ttr Txnrd3	14056 14067 14281 16476 17128 19206 20363 21937 22139 232223	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	19142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110391	retinitis pigmentosa 31 Aliases: RP31	Topors	106021	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:654	overnutrition	Nos3	18127	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	Cast Chrna1	11435 12380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4galt1	14595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111727	geleophysic dysplasia 3 Aliases: GPHYSD3	Ltbp3	16998	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	Anxa7 Cd40 Cd79b Ctla4 Ephx1 Fcgr2b Fcgr3 Gpx1 Icam1 Igf2r Mtss1 Pon1 Prf1 S1pr2 Tmem260	11750 12477 13849 14130 14131 14739 14775 15894 15985 16004 18646 18979 211401 218989 21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Kcna1 Kcna2 Kcna3 Kcna4 Kcna5 Kcna7	16485 16490 16491 16492 16493 16495	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7736	retinal telangiectasia	Kdr Vegfa	16542 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	Abcc6 Enpp1	18605 27421	Mus musculus (house mouse)	Alliance of Genome Resources

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