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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 **1976 - 2000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	Dgkd	227333	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X Aliases: LGMD2X muscular dystrophy, limb-girdle, type 2X	Bves	365603	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	comta comtb myca mycb parp1 wnt5b	30105 30686 393141 560788 561372 565370	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	Acsl3	74205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111638	autosomal recessive nonsyndromic deafness 100 Aliases: DFNB100 autosomal recessive deafness 100	PPIP5K2	23262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110969	brachydactyly type B1 Aliases: BDB1	Ror2	26564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	Prnp	24686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	ANTXR1 BARHL1 KDM6A	56751 7403 84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	Ace Acer Ance Egfr Fas2 Fuca Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Lerp Mvl Octbeta2R PEK Sod3 Spn28Dc Tl Tsf2 Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2 Zw oxt wfs1	31364 31926 32974 34091 34189 34805 34978 34979 34981 35105 35137 35138 35139 36232 36868 37104 37420 37455 3772574 38288 39435 40079 40653 41334 41549 41573 41574 41625 42490 42538 42679 43222 43223 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	STE20 STE6 VVS1	852543 853671 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	Scn5a	25665	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	Scn2a	110876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ADAMTS15 ECEL1 FBN2 MET MYBPC1 MYH15 MYH1 MYH7	170689 2201 22989 4233 4604 4619 4625 9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	Abcc8 Ace2 Ace Ager Aifm1 Ak1 Ap2b1 App Aqp4 Arc Bad Bax Bcan Bdnf Bnip3 C1qtnf6 C3 Calca Camk2a Casp9 Cd86 Crtc1 Csf3 Cxcr3 Egr1 Eif2s1 Elane Epcam Ephb2 Epn1 Epo F12 Gap43 Gapdh Gdnf Ghsr Glul Grin1 Gsk3b Has2 Hdac4 Hmgb1 Hp Il13 Il1rn Il4 Il5 Il7r Mag Mapt Mmp9 Mtor Nampt Ncam1 Nfe2l2 Ngf Ngfr Nox1 Ogg1 Park7 Pdgfra Pdgfrb Plat Prkcg Ptprz1 Rbfox3 Rgma Serpinf1 Shh Slc12a2 Slc1a2 Slc2a1 Slc9a1 Smo Snap91 Sod1 Tgfb1 Th Tnf Tnfrsf1a Trem1 Upp1 Vegfa	11421 11596 11636 11820 11829 11838 12015 12028 12032 12064 12176 12266 12310 12322 12371 12524 12766 12985 13653 13665 13844 13854 13856 14432 14433 14573 14645 14810 15117 15289 15439 16163 16181 16189 16191 16197 17075 17136 17395 17762 17967 18024 18049 18053 18294 18595 18596 18752 18791 19283 20317 20423 20496 20511 20525 20544 20616 20655 208188 208727 20927 21803 21823 21926 21937 22271 22339 237038 244058 26926 319757 382056 50701 52897 56637 56717 57320 58217 58992 59027 70008 71770 72709	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6 Aliases: HSAN6 hereditary sensory and autonomic neuropathy type VI	Dst	13518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	acn-1 pat-3 smf-1 smf-3 srp-3	175504 177044 178672 180780 180939	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	APOC3 CCL5 COQ2 HLA-DQA1 HNF1A HSPD1 LEP LEPR PON1 WFS1	27235 3117 3329 345 3952 3953 5444 6352 6927 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:1564	fungal infectious disease Aliases: mycosis	CCL2 CCR2 CCR6 MBL2	1235 4153 6347 729230	Homo sapiens (human)	Alliance of Genome Resources

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