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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 **9251 - 9275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111407	Fraser syndrome 2 Aliases: FRASRS2	Frem2	242022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111982	immunodeficiency 56 Aliases: IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency	Il21r	60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	Gpx4	625249	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Bmp4 Cdh1 Fgfr1 Gdf6 Mthfd1 Nectin1 Nog Pomt1 Sdc2	108156 12159 12550 14182 15529 18121 242316 58235 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	Snrnp200	320632	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	Bmp4 Hspa1a Lifr	12159 16880 193740	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	Alg9	102580	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	Ace Acsl3 Adam28 Adipoq Agtr1a Agtr1b Akr1a1 Akt1 Amh Antxr1 Anxa7 Apoc3 Areg Arid1a Bad Bard1 Bax Bcas2 Bcas3 Bmp4 Bmp6 Bmp7 Casp9 Ccnb1 Ccr5 Ccr6 Cd55 Cd55b Cdh13 Cdh1 Cdk13 Cfb Cga Chi3l1 Clu Comt Csf1 Csf1r Csnk2a1 Ctla4 Ctsb Ctsd Cyp1a1 Cyp1a2 Cyp2c29 Ddr1 Dll4 Egfr Egr1 Eng Epo Epor Erbb2 Esr1 Esr2 F10 F11r F5 F7 Fanca Fas Fgf8 Fgfr2 Flt1 Ghr Gpx1 H2-Aa H2-Eb1 Hfe Hgf Hmmr Icam1 Ifng Igf1r Igf2 Igfbp3 Ikbkb Il13ra2 Insr Itga1 Jun Kat2b Kat6b Kdm3b Kdm6a Kdr Kiss1r Klk1 Klk1b11 Klk1b16 Klk1b1 Klk1b21 Klk1b22 Klk1b24 Klk1b26 Klk1b27 Klk1b3 Klk1b4 Klk1b5 Klk1b8 Klk1b9 Klk4 Kmt2b Kmt2e Kras Lep Lhcgr Lnpep Lta Map2k1 Map2k3 Mapt Met Mki67 Mmp1a Mmp8 Msh6 Muc1 Myc Ncor2 Nfkb1 Nos3 Ogg1 Pak1 Pdgfa Pdgfrb Pgf Phb1 Pik3ca Pmepa1 Pon1 Ppp2r2b Prkaa1 Ptges3 Ptgs1 Ptpn13 Rassf1 Rb1cc1 Rnf20 Shmt1 Smarca4 Sncg Snw1 Sod2 Sox2 Spint1 Stat3 Tcf7l2 Tet2 Tfrc Tgfb1 Timp1 Timp3 Tlr2 Tlr4 Tlr9 Tnf Tnfaip3 Trp53 Tsc1 Ugt1a1 Wif1 Wnt1 Wnt2 Wnt7b Wnt9a Wrn	105787 109331 109700 11421 114229 11450 11607 11608 11651 11705 11750 11814 11839 12015 12021 12028 12159 12161 12162 12305 12371 12421 12458 12477 12550 12554 12640 12654 12759 12774 12846 12977 12978 12995 13030 13033 13076 13077 13095 13136 13137 13522 13646 13648 13649 13653 13805 13856 13857 13866 13982 13983 14058 14067 14068 14087 14102 14179 14183 14254 14600 14775 14960 14962 14969 15216 15234 15366 15894 15978 16001 16002 16009 16150 16165 16337 16456 16476 16542 16612 16613 16615 16616 16617 16618 16619 16622 16623 16624 16653 16846 16867 16992 17295 17345 17394 17688 17762 17829 17869 18033 18048 18050 18127 18294 18479 18519 18590 18596 18654 18673 18706 18979 192197 19224 19249 20425 20586 20602 20618 20656 20674 20732 20848 214133 21416 216795 21803 21857 21859 21898 21926 21929 22042 22059 22289 22408 22413 22422 22427 240028 24088 24117 26395 26397 268697 277250 394436 54169 54485 56289 56351 56640 58810 64930 65112 66354 68183 69188 69538 69562 72930 74205 75410 81897 83995 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:289	endometriosis	Bax Ccl11 Ccl2 Cd36 Csf1 Ctnnb1 Cyp1a1 Dnmt1 Egr1 Esr1 Ezh2 Fgfr2 Foxp3 Gc H2-Eb1 Ifng Il10 Kdr Kras Lyn Mmp2 Mmp9 Ptgs2 Sell Serpinf1 Tnf Tnfrsf1b Vegfa Vip	12028 12387 12491 12977 13076 13433 13653 13982 14056 14183 14473 14969 15978 16153 16542 16653 17096 17390 17395 19225 20292 20296 20317 20343 20371 21926 21938 22339 22353	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	Adam28 Ces1d Gpt Ikbkb Il10 Pcna Setd2 Slco1b2 Slco2b1	101488 104158 13522 16150 16153 18538 235626 28253 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111243	acromicric dysplasia Aliases: ACMICD acromicric skeletal dysplasia	Fbn1	14118	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	Atp4b	11945	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	Ak1 G6pd2 G6pdx Gpi1 Hk1	11636 14380 14381 14751 15275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Cd8a Ctla4 Def6 Fnip1 Ifnar1 Il2 Il6st Il7r Magt1 Mpeg1 Ptprc Sppl2a Tet2 Tlr1 Tlr2 Tlr3 Tlr4 Tlr6 Tlr8 Tnfrsf9 Tom1 Tpp2	12477 12525 142980 15975 16183 16195 16197 170744 17476 19264 214133 216742 21897 21898 21899 21942 21968 22019 23853 24088 66552 67075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4137	common bile duct disease	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	H2-Aa H2-Ab1	14960 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9835	refractive error	Fbn1 Prss56	14118 69453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Acsl5 Plvap Wnt2b	22414 433256 84094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	Galc Psap	14420 19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	Ndufaf2	75597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	Abca4	11304	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	Champ1	101994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5434	scrapie	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources

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