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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 **15601 - 15625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112206	developmental and epileptic encephalopathy 70 Aliases: DEE70 early infantile epileptic encephalopathy 70	Phactr1	218194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	Pln	64672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	Homo sapiens (human)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	daf-2 poml-1 poml-2 ver-1 ver-3 ver-4	171999 175182 175410 181289 186632 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Psap Tnf	14466 19156 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	Mme	17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	Aurkb Braf Bsg Ccnb1 Cd82 Cdh13 Erap1 Fgf7 Gsk3b Jun Mmp8 Mmp9 Msh3 Ncoa1 Ncor2 Nos3 Pik3r1 Ptgs1 Rassf1 Smad4 Sparc Timp1 Trp53 Wnt2 Wnt4 Wnt5a	109880 12215 12521 12554 14178 16476 17128 17394 17395 17686 17977 18127 18708 19224 20602 20692 20877 21857 22059 22413 22417 22418 268697 56289 56637 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11563	retinal vasculitis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050168	autoimmune polyendocrine syndrome type 2 Aliases: Schmidt syndrome	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080000	muscular disease	HFA1 HMG1 HMG2	851171 854900 855247	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	comta comtb ngfb notch1a ppp1r3b ppp1r3cb st6gal1	30718 327285 393807 445376 561372 565370 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	NBN	4683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112155	inflammatory bowel disease 29 Aliases: IBD29	INAVA	55765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	GPR143	4935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	548946	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:529	blepharospasm	Drd5	25195	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI THBD	10878 11093 3075 3078 3426 4179 629 7056 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	srp-3 ver-1 ver-4	175182 178672 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ND4 Sod2 Tp53	24787 24842 26201	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	Acer Actbeta Ance-3 Ance Atg6 Calr Calx Egfr Fas2 Glut1 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Nep1 Nep3 Nep4 Octbeta1R Octbeta2R Ork1 Parp1 SerT Tace kdn mAChR-A mnb nAChRalpha1 nAChRalpha2 nAChRbeta2 para sxc	31364 31547 31579 31926 32020 32619 32771 33005 3355109 34189 34805 34808 34978 34979 34981 35486 36868 37104 37455 37892 37895 38109 41166 41549 42449 42481 42652 42850 42918 42919 42920 43558 43826	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	Tsf2	39435	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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