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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 **11451 - 11475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110981	Joubert syndrome 10 Aliases: JBTS10	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	Casq2	12373	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3410	carotid artery thrombosis	F3 Thbd	14066 21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	Cct3 Daam1 Dsg2 Myh7 Rps3 Rps5	12462 13511 140781 20103 208846 27050	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1849	cannabis dependence	Abcb1a Abcb1b Ache Comt	11423 12846 18669 18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	Tubb4b	227613	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	Cd163 Il3	16187 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	Vapa	30960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod1	18822	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	F5 Lman1 Tfpi	14067 21788 70361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1681	heart septal defect Aliases: Cardiac septal defects Congenital septal defect of heart septal defect	Bmpr2 Creld1	12168 171508	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	Gcgr	14527	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	Bmp1	12153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	Ace2	70008	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	Il15 Il1rn	16168 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F2 F7	14061 14068	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	Ackr3 Cxcr4	12767 12778	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050598	extrapulmonary tuberculosis	Cd209a Cd209b Cd209c Cd209d Ereg	13874 170776 170779 170786 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8354	complement component 3 deficiency Aliases: C3 deficiency	C3	12266	Mus musculus (house mouse)	Alliance of Genome Resources

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