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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 **1 - 25** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ABCB1 ABCC2 ABCC8 ABCG2 ACAN ADAM10 ADAM9 ANK3 APEX1 APOD AQP1 AQP4 ATM BAX BDNF CASP6 CCL2 CCR5 CFL1 CKMT1A CKMT1B CNR1 CX3CL1 CYP11A1 DAB1 DMD DPYSL2 GABRB3 GHSR GRIA1 GRIA2 GRIK1 GRIN1 GRIN2A GRN GSK3B H2AX HCN1 HRH3 HSD11B1 HSPA1A IDH2 IL6ST KCNC4 KCNJ11 KCNK3 MEF2C MMP9 MTOR NLGN1 NLGN2 NR3C1 NT5E NTF3 OGG1 OLIG2 PGF PLAT PLAU PLAUR PTGS2 PTPRZ1 RELA RELN SLC6A8 SLC8A1 SLC8A2 SLC8A3 SOCS3 SOD2 SRC SSTR4 TFAM TNF XRN2	102 10215 1072 11255 1159 1234 1244 1268 1583 1600 1756 176 18 1808 22803 22871 2475 2562 2693 288 2890 2891 2896 2897 2902 2903 2908 2932 3014 328 3290 3303 3418 347 348980 3572 358 361 3749 3767 3777 4208 4318 472 4907 4908 4968 5228 5243 5327 5328 5329 548596 5649 5743 57555 5803 581 5970 627 6347 6376 6535 6543 6546 6547 6648 6714 6754 6833 7019 7124 839 8754 9021 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Aga Hexb Psap Slc17a5 Slc66a1	25524 290923 294673 362642 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	53374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:26	pancreas disease	Msln	56047	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	GUCY2D PRPH2	3000 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	Adra2a Pparg	25083 25664	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	Chrna2	170945	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1.L dpm1.S	414689 734516	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	A2m Flt1 Pdgfb	14254 18591 232345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	Ptgs2	29527	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	EMI2 FBP26 GLK1 HXK1 HXK2 IZH1 YBT1	850317 850614 850678 852102 852128 852639 853286	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	Dll4 Notch1	25496 311332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4724	brain edema Aliases: intracranial swelling wet brain	cacna1ba vegfaa	30682 555941	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4252	Alexander disease Aliases: Alexander's disease	GFAP	2670	Homo sapiens (human)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	Erbb2 Erbb3 Erbb4 Ppargc1a	13866 13867 13869 19017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	A2m Acadvl Ace Ache Adam10 Adam17 Adam2 Adra1a Adrb3 Agt Agtr1a Agtr1b Aldh2 Ank3 Aoc3 Apod App Aqp4 Atf2 Atp5f1a Atp5f1d Atp5mg Atp5po Atp7a Bace1 Bace2 Bad Bdnf C3 C5ar1 Camk2a Ccr5 Cd40lg Cdk5 Cebpb Cftr Chrna4 Chrna7 Clu Cst3 Ctnnb1 Ctsd Ctss Dlst Dnm1 Dnm1l Drd2 Drd3 Drd5 Dync1h1 Egf Elk1 Eno1 Epo Esr1 Esr2 Fas Fgfr1 Gapdh Gapdhs Gdnf Glud1 Grin1 Grin2a Grin2b Grn Gsk3b Gsto2 Hadha Hadhb Hfe Hivep2 Hmgcr Hsd17b10 Hspa1a Hspd1 Htr1a Htr2a Icam1 Igf1r Igf2 Igfbp3 Il10 Il1a Il2 Il4 Ins1 Ins2 Irs1 Itpr1 Kcnc4 L1cam Ldlr Lep Lpl Lrp1 Lrpap1 Map2 Mme Mmp2 Mmp9 ND4 Ncam1 Ncstn Nefl Nefm Nfe2l2 Ngf Ngfr Nos1 Nos3 Notch3 Nrp1 Ntf3 Ntrk1 Ntrk2 Parp1 Pck1 Pdgfb Pik3r1 Plcd1 Pon1 Pon2 Pon3 Ppara Pparg Ppargc1a Prkcb Ptgs2 Reg1a Reln Sell Selp Serpine2 Slc18a3 Slc25a4 Slc2a1 Slc2a3 Slc8a1 Slc8a2 Slc8a3 Snap91 Snca Sncb Sncg Sod2 Sorl1 Syp Tlr4 Tm2d2 Tmed10 Tnf Tnfrsf1a Tnfrsf1b Ttr Uqcrc1 Vegfa Vim	113893 113959 114114 116562 116565 117029 140447 140448 140694 140908 156767 170670 171155 171293 192241 24153 24179 24180 24225 24232 24253 24255 24310 24318 24333 24335 24383 24399 24408 24409 24410 24472 24473 24483 24484 24493 24505 24506 24539 24586 24588 24590 24596 245965 24598 24600 246097 24628 246331 24655 24714 24718 24778 24787 24804 24835 24854 24856 24890 24941 25023 25054 25149 25195 25239 25262 25293 25302 25307 25313 25325 25363 25400 25453 25464 25467 25513 25551 25590 25591 25595 25608 25625 25645 25651 25664 25675 25718 25747 26201 287287 288227 289231 290833 29143 29199 29219 29238 29259 29260 29366 29392 29412 29473 29489 29527 29539 29595 29650 296851 29715 29721 299201 299858 300438 300652 300677 301011 309465 310738 312086 314436 361833 362282 50654 50687 54226 56761 56806 57027 59109 60422 63864 63868 64347 64639 65178 65262 66020 684516 79114 81638 81647 81686 81687 81737 81818 83516 83613 83619 83785 83817 84024 84027 84349 84353 84599 85333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070288	primary autosomal recessive microcephaly 17 Aliases: MCPH17	CIT	11113	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	ATG26 NFT1	850886 853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	Kcnt2	304827	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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