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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 **1201 - 1225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	CG7546 Stim	32556 38844	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1b Npc2a	33072 33374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	Cd44 Cdh1 Ctnnb1 Faslg	25385 25406 83502 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1307	dementia	pon1	447803	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	Il4 Tlr4	287287 29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	HIRA MED15 PI4KA PRODH2 SNAP29	51586 5297 58510 7290 9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:9955	hypoplastic left heart syndrome	Chchd3 Chchd6 Foxp1 Gja1 Myh7 Rbfox2 Sap130	108655 140781 14609 269003 66075 66098 93686	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	SLC5A12 SLC5A5 SLC5A6 SLC5A8	159963 160728 6528 8884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Aliases: IBMPFD2 MSP2 multisystem proteinopathy 2	HNRNPA2B1	3181	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	Ace Agtr2 Anxa5 Axl Bdkrb1 C1qa C3 Ccl1 Ccl7 Cd163 Cd59a Cd59b Cfi Col4a3 Csf1 Ep300 F2 Fbn1 Fcgr2b Fcgr4 Fn1 Fos Gas6 Gdnf Ifng Il1rn Itga3 Itgb1 Itgb3 Klkb1 Ltbp1 Mpo Ngf Pdgfb Pdgfd Pla2g7 Prf1 Ptafr Spp1 Tnfrsf1a Tnfrsf1b Tpo Trf Vcam1 Vegfa	11421 11609 11747 12061 12259 12266 12509 12630 12828 12977 14061 14118 14130 14268 14281 14456 14573 15978 16181 16400 16412 16416 16621 17523 18049 18591 18646 19204 20290 20306 20750 21937 21938 22018 22041 22329 22339 246256 26362 268977 27226 328572 333883 71785 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	cri-2	179197	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	Tgfb3	25717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	F09G2.8	179105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	Cad99C	43528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	galns	791159	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080272	nephrotic syndrome type 16	Kank2	100361376	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	rho rhol	30295 562845	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	slc17a8	563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	F5 PDGFRA	2153 5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7997	thyrotoxicosis	Il10	16153	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	571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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