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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 **3301 - 3325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Ace Agtr2 Atp7a Bmp4 Cbl Ep300 Frem1 Gata4 Htr2a Igf2 Igfbp3 Lcn2 Lrp1 Myrf Ndst1 Nos3 Nr2f2 Pdgfra Pls3 Sftpb Slc6a4 Slit2 Slit3 Sod1 Sod2 Tnf Vegfa	102866 11421 11609 11819 11977 12159 12402 14463 15531 15558 15567 16002 16009 16819 16971 18127 18595 20388 20563 20564 20655 20656 21926 22339 225908 328572 329872	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110324	hypertrophic cardiomyopathy 18 Aliases: CMH18 cardiomyopathy familial hypertrophic 18	Pln	64672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	GLS	2744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	uex	5740320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080526	bronchiectasis 1	asic-1 asic-2 deg-1 mec-10 mec-4 unc-105 unc-8	174306 177494 181035 181101 181728 189058 191422	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	MEP2	855580	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080487	peroxisome biogenesis disorder 13A Aliases: peroxisome biogenesis disorder 13A (Zellweger)	PEX14	5195	Homo sapiens (human)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NPC1 NPC1L1	29881 4864	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	Bmp10 Bves Cfc1 Dnah5 Fgf8 Gata4 Gja1 Jag1 Mthfd1 Nrp1 Ntf3 Phc1 Ptpn11 Tbx20	108156 110082 12154 12627 13619 14179 14463 14609 16449 18186 18205 19247 23828 57246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110441	dilated cardiomyopathy 2B Aliases: CMD2B	GATAD1	57798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060850	annular pancreas	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1 GGTLC1 GGTLC2	2678 91227 92086	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	smo	30225	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	Nos3 Vegfa	24600 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	100498555	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	Api5 Bsg Ccnb1 Cd55 Cd55b Cdh13 Erbb4 Fanca H2-Ab1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hnrnpc Hspa8 Il10 Kdm3a Kmt2e Kras Map2k3 Mdc1 Mmp13 Mmp1a Pgm3 Ptpn11 Ptpn6 Rassf1 Smad2 Smad4 Spag5 Tnf Tnfrsf10b	104263 109785 110557 11800 12215 12554 13136 13137 13869 14087 14961 14964 14972 14990 15006 15007 15013 15015 15018 15043 15170 15381 15481 16153 16653 17126 17128 17386 19247 21926 21933 240087 26397 268697 54141 56289 69188 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	MFAP4 RAI1	10743 4239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111642	autosomal recessive nonsyndromic deafness 114 Aliases: DFNB114 autosomal recessive deafness 114	GRB2	2885	Homo sapiens (human)	Alliance of Genome Resources

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