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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 **6451 - 6475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	361368	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	YLR001C ZWF1	850687 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2	38545 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	Bdkrb1 Cd40lg Gja1 Ngf Penk Trpa1	12061 14609 18049 18619 21947 277328	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:2560	morphine dependence	ADRA2A AGO2 BAX BDNF COMT CREB1 DRD2 FADD FOS FOSB GAD1 GRIA1 NCAM1 NGF NPSR1 NR3C2 POMC	1312 1385 150 1813 2353 2354 2571 27161 2890 387129 4306 4684 4803 5443 581 627 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:285	hairy cell leukemia	gpx-3 gpx-5	181178 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	GLK1	850317	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ACVRL1 ADAMTS1 ADAMTS4 AGER AGT AHR AIFM1 ANK1 ANK2 APOE AQP4 ATF2 ATP5F1B BACE1 BAX C3 CAMK2A CASP7 CASP9 CBL CCL2 CCNH CCR6 CDK5 CHKA CREB1 CSF3 CX3CL1 DAXX DBN1 DLL4 DUSP16 EIF2S1 ELANE ELK1 ENTPD1 EP300 EPO ERCC6 ESR1 F11R F12 FADD FAS FGFR1 FGFR2 FMR1 FTO G6PD GAD1 GAD2 GHSR GLRX GLUL GOT1 GPX3 GRIN2A GRIN2B H2AX HAVCR2 HIF1A HNRNPA2B1 HNRNPAB HRH2 HSF1 HSPA5 HSPA8 HSPB1 HTT ICAM1 IFNB1 IKBKB IL10 IL1RN ITGAM ITGB3 ITPR1 JAK1 KCNK2 KDM1A KLF5 KMT2A LCN2 LMNA LPAR1 LTBP1 MADD MAP2K4 MBD3 MBP MCFD2 MDM2 MECP2 MFF MMP2 MMP9 MT1E MT1H MT2A MTOR NAMPT NEFH NEFL NEFM NF1 NFKB1 NGFR NOS1 NOS3 NOTCH1 NOX1 NRG1 NRP1 NRXN1 OGG1 OPA1 OPTN PARP1 PAWR PCNA PLAT PLAU PLXND1 PPARG PPP1R15A PPP1R9A PTAFR PTEN PTGER4 PTGIS PTPN13 RACK1 ROBO1 ROBO2 RPS6 SEMA3E SERPINE1 SERPINF1 SIN3A SIRT6 SLC12A2 SLC17A6 SLC17A8 SLIT2 SMPD3 SOD1 SOD2 STAT3 TERT TFPI TIAL1 TNF TNFRSF1A TRPC6 UCP2 VWF WNK1 WNK2 XRCC1	10133 10135 1020 10399 1119 1235 1385 1386 142 1440 1616 1627 177 183 1902 196 1965 1991 2002 2033 2056 2074 2099 2161 2260 2263 23028 23129 2332 23621 23645 246213 2475 2539 2571 2572 25942 2693 27035 2745 2752 2805 286 287 2878 2903 2904 3014 3064 3084 3091 3181 3182 3274 3297 3309 3312 3315 3383 3456 348 355 3551 3557 3586 361 3684 3690 3708 3716 3776 3934 4000 4052 4155 4193 4204 4297 4313 4318 4493 4496 4502 4741 4744 4747 4763 4790 4804 4842 4846 4851 4968 4976 5054 506 5074 50848 5111 51548 5176 5327 5328 53615 54567 5468 55512 55607 56947 57084 5724 5728 5734 5740 5783 581 6091 6092 6194 6347 6376 6416 65125 65268 6558 6647 6648 6774 688 7015 7035 7073 7124 7132 718 7225 7351 7450 7515 79068 80824 815 840 842 84868 8567 867 8772 8829 902 90411 9131 9353 9378 94 9507 9510 953 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ADIPOQ MMP12	4321 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112074	nuclear type mitochondrial complex I deficiency 1 Aliases: MC1DN1	Ndufs4	499529	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060532	latex allergy	H2-Ab1 H2-Eb1	14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5733	salpingitis	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 RHCG	231 51458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	TAF1	853191	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	Ephx1 Ggt1	13849 14598	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)	Alliance of Genome Resources
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	R193.2 W01C8.5 acr-15 acr-16 acr-7 bli-3 cle-1 daf-2 dhrr-1 duox-2 eat-2 gpx-3 gpx-5 lev-9 pgp-1 pgp-3 poml-1 poml-2 smf-1 smf-2 smf-3 vab-1 ver-1 ver-4	171608 171999 172678 173794 174262 175072 175182 175410 177044 178215 179235 180836 180939 181178 181326 182256 182513 186188 186632 187297 188252 191374 191602 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	Gabrg1	14405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Mcm4	17217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	fgfr2 kdr	352940 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	K09E4.4 Y105E8B.9 chhy-1	173326 174383 175063	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	Bax Hdac4 Ifng Il2	12028 15978 16183 208727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111266	geroderma osteodysplasticum Aliases: GO Walt Disney dwarfism geroderma osteodysplastica gerodermia osteodysplastica	Gorab	98376	Mus musculus (house mouse)	Alliance of Genome Resources

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