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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 **11476 - 11500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	F3 Serpinh1 Tfpi	12406 14066 21788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	Muc1 Ren1 Umod	17829 19701 22242	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	Pnpla2 Pnpla3	116939 66853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	237500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	Yap1	22601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	Akt1 Alpl Angpt1 Ccnb1 Ctnnb1 Esr1 Esr2 Igf2r Mki67 Pdgfra Pdpn Pou5f1 Ptgs2 Sfrp1	11600 11647 11651 12387 13982 13983 14726 16004 17345 18595 18999 19225 20377 268697	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	Cog6	67542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112332	pontocerebellar hypoplasia type 13 Aliases: PCH13	Vps51	68505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	Cxcr4 Fcgr4 Il10	12767 16153 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3	Lpar6	67168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	Iqsec1	232227	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	Dync1h1	13424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	Mbl2 Tlr5	17195 53791	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	Ace Agtr1a Agtr1b Akt1 Bdnf F7 Hmgcr Itga2 Itgam Itih4 Mmp1a Selp Serpinc1 Sod3	11421 11607 11608 11651 11905 12064 14068 15357 16398 16409 16427 20344 20657 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:76	stomach disease Aliases: Gastropathy stomach disorder	Calca H2-Ab1 Muc5ac	12310 14961 17833	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	Plcb3	18797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	Adra1a Col1a1 Col3a1 Htr2a Ngf Nos3 Sod2	11549 12825 12842 15558 18049 18127 20656	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	Aqp2	11827	Mus musculus (house mouse)	Alliance of Genome Resources

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