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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 **4101 - 4125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	BMP1 CCDC134 COL1A1 COL1A2 PHLDB1 SMAD4 SMPD3	1277 1278 23187 4089 55512 649 79879	Homo sapiens (human)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	Bax Casp9 Cd209a Cd209b Cd209c Cd209d Chi3l1 Dag1 Flt1 Il1rn Mbl2 Muc1 Sftpb Sftpd Tnf Trp53	12028 12371 12654 13138 14254 16181 170776 170779 170786 17195 17829 20388 20390 21926 22059 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	IDS	3423	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:9256	colorectal cancer	Abl1 Adam10 Adam28 Adgrb1 Aff4 Akt1 Akt2 Antxr1 Apoc3 Arid1a Arid2 Azgp1 Bambi Bax Bcor Braf Btk Bub1 Calr Casp9 Cbl Ces1c Ces1d Ces1e Ces1f Ces1g Chd4 Ctnnb1 Cxcr4 Dab2ip Dcc Ddr1 Ddr2 Dlc1 Eef2 Egfr Ep300 Erbb4 Esr2 Ezh2 F7 Fasn Fat1 Fosl2 Foxp3 Gad1 Galnt12 Gclc Gpx1 Gpx4 Grin2a H2-Ab1 Hdac1 Hfe Hk1 Hnrnpk Hnrnpu Hspa8 Kdm3b Kdm6a Kdr Kras L1cam Lif Lox Lrp1b Lyn Map2k4 Map4k4 Mki67 Mlh1 Mmp2 Mmp9 Ndc80 Nfe2l2 Notch1 Notch2 Notch3 Ntrk3 Pdgfrl Pik3ca Pik3cb Pik3r1 Ptpn12 Ptpn13 Ptprj Ptprt Rab1b Ramp2 Ramp3 Rbm10 Rnf43 Septin9 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpinf1 Setd2 Shh Slc7a5 Smarcc1 Smo Snai1 Src Stat3 Stim1 Tbx3 Tcf7l2 Tet2 Tgfb1 Tgfb2 Tgfb3 Tgfbr1 Thbs1 Tlr2 Tnfaip3 Tnfsf9 Trp53 Ttr Vegfa Yap1 Yes1 Ythdf1	104158 107831 107932 109880 11350 11487 11651 11652 11814 12007 12028 12229 12235 12305 12317 12371 12387 12402 12623 12767 13176 13522 13629 13649 13869 13884 13897 13983 14056 14068 14104 14107 14284 14415 14629 14775 14811 14961 15216 15275 15387 15481 16542 16653 16728 16878 16948 17096 17345 17350 17390 17395 18024 18128 18129 18131 18213 18214 18706 18708 19248 19249 19271 19281 20317 20371 20423 20539 20588 20613 20700 20701 20702 20703 20704 207742 20779 20848 20866 21386 214133 21416 21803 21808 21809 21812 21825 21929 21950 22059 22139 22289 22339 22601 22612 228994 230145 234564 235626 236732 24088 26398 26921 277250 319757 328572 433759 50768 51810 53860 54409 56089 625249 67052 68010 68797 69538 69601 71458 74769 76308 77044 93736 93760 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3044	food allergy Aliases: food hypersensitivity	Il5	16191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	COL7A1 GRIP1	1294 23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	gspd-1	178046	Caenorhabditis elegans	Alliance of Genome Resources
DOID:576	proteinuria	Acer Ance Col4a1 Sdc Spn28Dc	33727 34091 34189 34805 37447	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	gapdh	317743	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080001	bone disease	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050152	aspiration pneumonia	Acer Ance	34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	pon1	447803	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ELO2 ELO3 PXA1 PXA2	850400 851087 853647 855956	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	56623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:10573	osteomalacia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050950	autosomal recessive cerebellar ataxia	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	Ppt1	31805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	wg	34009	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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