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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 **14001 - 14025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	Aifm1 Ndufs1 Ndufs4 Slc25a10	17993 227197 26926 27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5327	retinal detachment	Aifm1 Bnip3 Ccl2 Cfh Cfhr4 Col2a1 Epo Epor Fas Fgfr1 Ntrk1 Tnf	12176 12628 12824 13856 13857 14102 14182 18211 20296 214403 21926 26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	Ahsg	25373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	Ahsg Apod Ccl2 Dcn Gck Ggt1 Icam1 Igf1r Il10 Inhba Ins1 Ins2 Itpr1 Lep Met Ogg1 Plat Rbp4 Ryr2 Trpv5 Trpv6	114246 116469 116568 24385 24505 24506 24553 24770 25239 25262 25325 25373 25464 25608 25692 25703 25718 29139 29200 689560 81528	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	Ahsg	11625	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	Ahnak Cd200 Gpr132 H2-Aa H2-Ab1 H2-Eb1 Idh1 Siae	14960 14961 14969 15926 17470 22619 56696 66395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	Ahdc1	230793	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Aliases: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	Ahcy Ahcyl	11615 269378	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	Ahcy Ahcyl	11615 269378	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Ahcy Ahcyl Atp1a1 Atp1a2 Bche Ccl2 Ece1 Ednra F10 F12 F2 F8 G6pd2 G6pdx Gpx1 Gria1 Grin2a Grin2b Icam1 Ngf Sod2	11615 11928 12038 13617 14058 14061 14069 14380 14381 14775 14799 14811 14812 15894 18049 20296 20656 230857 269378 58992 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	Agxt2 Bad Bax Sirt2	12015 12028 268782 64383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1059	intellectual disability	Agtr2 Ank3 Casr Gatad2b Gpi Gpm6a Gpm6b Hivep2 Hpn Il1rapl1 Irs1 Mef2d Ndst1 Ndst2 Ndst3 Ndst4 Pogz Prss12 Psmb1 Rbl2 Slc6a8	114002 192179 24182 24247 25467 29135 292804 295430 29633 29721 306439 310614 310658 317553 361833 362035 50690 81518 81758 85266 94198	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	Agtr2 Atf2	11609 11909	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1059	intellectual disability	Agtr2 Ank2 Ank3 Arhgef6 Atf7ip Atrx Bod1l Casr Cc2d1a Cdk13 Cdkl5 Cntnap2 Cul4b Dmd Drd4 Dyrk1b Eif4a3 Gatad2a Gatad2b Gpi1 Gpm6a Gpm6b Gprasp2 Hivep2 Hpn Il1rapl1 Irs1 Irs2 Itga2b Itga5 Itga8 Itgav Itsn1 Kansl1 Kras Mef2c Mef2d Ndst1 Ndst2 Ndst3 Ndst4 Nono Plp1 Pogz Prss12 Psmb1 Rbfox1 Rbfox2 Rbfox3 Rbl1 Rbl2 Ryk Sars1 Slc6a8 Tsc1 Ubr4 Ywhaq Ywhaz Zc3h14	102857 109676 11609 11735 12374 13405 13491 13549 14751 14758 15273 15451 15531 16367 16399 16402 16410 16443 16653 17260 17261 17423 18823 19142 19170 192170 19650 19651 20187 20226 212139 22589 22630 22631 229542 229584 234267 234366 241226 245607 268859 331461 382253 384783 52897 53610 54343 64580 64930 665775 66797 69116 69562 72584 73341 75553 76719 83398 93686	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3891	placental insufficiency	Agtr1a Epo Grin1 Grin2a Grin2b Pdx1 Ppargc1a Serpine1	24180 24335 24408 24409 24410 24617 29535 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1073	renal hypertension	Agtr1a Crp Mmp2 Mmp9 Nos3 Tnf	24180 24600 24835 25419 81686 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	Agtr1a Agtr1b	24180 81638	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9620	vesicoureteral reflux Aliases: vesico-ureteral reflux	Agtr1a Agtr1b Agtr2 Havcr1 Ifng Igf1r Timd2	24180 24182 25712 25718 286934 287222 81638	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	Agtr1a Agtr1b Agtr2 Clu Cpb2 Dgat2 Dnm1l Fgf23 Havcr1 Hmgcr Hp Il1rn Kl Klk1 Klk1b3 Klk1c10 Klk1c2 Klk1c9 Lepr Map3k7 Mas1 Nfe2l2 Nos3 Pcsk2 Rbp4 Shh Slc19a1 Slc34a1 Slc46a1 Synpo Vcam1	113936 114114 170583 24180 24182 24464 24523 24536 24594 24600 24841 24854 25121 25153 252900 25361 25548 25675 25703 286934 292858 292868 29499 29723 303333 313121 60324 60582 81638 83504 83619	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3891	placental insufficiency	Agtr1a Emp2 Epo Grin1 Grin2a Grin2b Itga2 Pdx1 Ppargc1a	11607 13731 13856 14810 14811 14812 16398 18609 19017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1073	renal hypertension	Agtr1a Cyp2c29 Hspa8 Mmp2 Mmp9 Nos3 Tnf	11607 13095 15481 17390 17395 18127 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	Agtr1a Bax Ccl2 Cd40lg Cd80 Clu Csf1 Csf1r Ctla4 Fcgr4 H2-Eb1 Il10 Il17a Il1rn Il4 Itga4 Mapk14 Mmp12 Pdcd1 Pf4 Selp Slit2 Tnf	11607 12028 12477 12519 12759 12977 12978 14969 16153 16171 16181 16189 16401 17381 18566 20296 20344 20563 21926 21947 246256 26416 56744	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	Agtr1a Agtr1b	11607 11608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	Agtr1a Agtr1b Arhgef7 G6pd2 G6pdx Glce Lmna P2ry12 Sele	11607 11608 14380 14381 16905 20339 54126 70839 93683	Mus musculus (house mouse)	Alliance of Genome Resources

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