GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9726 - 9750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	52466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111951	immunodeficiency 40 Aliases: DOCK2 deficiency IMD40	Dock2	94176	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	Abcb1a Abcb1b Abcg2 Adgrb1 Afp Agtr1a Agtr1b Agtr2 Akt1 Akt3 Angpt1 Arnt Bad Bmp4 Bmp6 Bmp7 Bsg C4b Cad Car9 Ccnb1 Cd44 Cd46 Cdh1 Comt Csf1r Ctla4 Ctnnb1 Cyp1a1 Dll4 Egfr Egln1 Egln2 Erbb2 Erbb4 Fas Fgfr1 Flt1 Fn1 Frs2 Fto Gsr H2-Eb1 Havcr1 Havcr2 Igf1r Igfbp3 Igfbp7 Il1rn Il2 Il4ra Insr Jun Jup Kcnh1 Kdm6a Kdm6b Kit Kras Lep Lnpep Ltf Map2k1 Met Mlh1 Mmp1a Mmp2 Mmp9 Mtor Muc1 Myc Nr3c1 Nrp1 Ogg1 Pak1 Pcna Pdcd1 Pdgfra Pdgfrb Pdpn Pfas Pgf Pik3r1 Pmepa1 Ppat Ptgs1 Ptgs2 Rassf1 Rela Sfrp1 Slc49a4 Smad2 Smad4 Smarcc1 Sparc St14 Stat3 Tfe3 Tfrc Tgfb1 Timd2 Timp1 Timp3 Tlr9 Tnf Tnfrsf10b Tnfrsf1a Tnfrsf1b Trp53 Tymp Vegfa Vegfc Vwf Wif1 Wnt11	107831 112405 112406 11576 11600 11607 11608 11609 11651 11863 12015 12159 12161 12162 12215 12268 12387 12477 12505 12550 12846 12978 13076 13649 13866 13869 14102 14182 14254 14268 14726 14782 14815 14969 16001 16009 16181 16183 16190 16337 16476 16480 16510 16590 16653 16846 17002 17126 17128 171283 171284 171285 17221 17295 17350 17390 17395 17829 17869 18186 18294 18479 18538 18566 18595 18596 18654 18669 18671 18708 19143 19224 19225 19697 20377 20588 20692 20848 209446 216850 21803 21857 21859 21926 21933 21937 21938 22042 22059 22289 22339 22341 22371 22411 224132 230099 231327 237823 23797 240028 24117 26357 26383 26395 268697 29817 327826 54485 56289 56717 65112 69719 72962 81897 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	Abca12	74591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	Colec10	239447	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	Phka2	110094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	Fkbp10	14230	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	Avpr1b Bdnf Hcn1	12064 15165 26361	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	Map1b	17755	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080461	developmental and epileptic encephalopathy 26 Aliases: DEE26 early infantile epileptic encephalopathy 26	Kcnb1	16500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Coq9	67914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	Cpa6	329093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	Muc1 Tnf	17829 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3454	brain infarction	Adipoq Adnp Aldh2 Atp2b2 Cacna2d1 Calcrl Cd8a Cfh Cfhr4 Ctsb Gpnmb Gzmb H2-Aa Hgf Hmgb1 Hnmt Htr2b Icam1 Igf2 Il15 Il2 Kcnk6 Mmp8 Mmp9 Pdgfb Prcp Rbfox3 Scn7a Tnf Tpcn2	11450 11538 11669 11941 12293 12525 12628 13030 140483 14939 14960 15234 15289 15559 15894 16002 16168 16183 17394 17395 18591 20272 214403 21926 233979 52150 52897 54598 72461 93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	Adgrg6 Mbtps1 Ptk7 Ptpn11 Slc39a8	19247 215798 56453 67547 71461	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	Cnnm4	94220	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	Glrb	14658	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	Dpys Pnp Umps	18950 22247 64705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	Ace2 Ptgs2	19225 70008	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	Cyp2c29	13095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5223	infertility	Csf1r Esr1	12978 13982	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources

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