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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 **451 - 475** of **4649** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:4483	rhinitis	ADAM33 BDKRB1 BDKRB2 BDNF C3 C3AR1 C5AR1 CCL11 CCL1 CCL24 CCL7 CCR2 CCR3 CD14 CD28 CDC42 CRHR1 CRHR2 CTLA4 CX3CL1 CYSLTR1 CYSLTR2 FCER1A HLA-DQA1 HLA-DQB1 IL13 IL16 IL17A IL1RL1 IL1RN IL22 IL23R IL2 IL4 IL4R IL9 LEP MBL2 MIF MUC5AC NGF NGFR NOD2 NOS2 NTRK1 OPA1 PTGDR2 SERPINE1 SFTPD TAP1 TGFB1 TLR2 TLR6 TNF VEGFA	10333 10800 11251 1232 1394 1395 149233 1493 2205 3117 3119 3557 3558 3565 3566 3578 3596 3603 3605 3952 4153 4282 4586 4803 4804 4843 4914 4976 5054 50616 57105 623 624 627 6346 6354 6356 6369 6376 64127 6441 6890 7040 7097 7124 718 719 728 729230 7422 80332 9173 929 940 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	GSN ICAM1 SELE VCAM1	2934 3383 6401 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	ACTA2 BAX CD209 CD36 COL1A1 COL3A1 GAPDH HLA-DQA1 HLA-DQB1 HLA-DRB1 IL10 INHBA LEF1 MMP9 SNAI1 TWIST1 ZEB1	1277 1281 2597 30835 3117 3119 3123 3586 3624 4318 51176 581 59 6615 6935 7291 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	GC HLA-DQA1 HLA-DQB1 HLA-DRB1 ICAM1	2638 3117 3119 3123 3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	ANGPT2 CAD	285 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	MYC SMARCA4 SMARCB1	4609 6597 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:4543	retrograde amnesia	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:8465	retinoschisis	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	CADM2 FAS IFNB1 KDM1B MGMT MTR RB1 SERPINF1 SNCG	221656 253559 3456 355 4255 4548 5176 5925 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:3612	retinitis	MIF	4282	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 ADGRV1 AIFM1 BCAN CA4 CAT CC2D2A CLRN1 CNGA1 CNGB1 CRB1 CRB2 CWC27 EDN1 EPG5 EYS FDXR FGFR2 GRIN2B GUCY2D HGF HK1 HKDC1 IMPG1 KL MFRP MT1E MT1H MT2A NGF PDE6B POC5 POMGNT1 PRPF3 PRPF4 PRPF8 PRPH2 PRPS1 PTEN RGR RHO RLBP1 SERPINF1 SLC6A6 SNRNP200 SOD1 USH2A VEGFA	10283 10594 1258 1259 134359 1906 2232 2263 23020 23418 24 286204 2904 3000 3082 3098 346007 3617 4493 4496 4502 4803 5158 5176 55624 5631 5728 57545 57724 5961 5995 6010 6017 63827 6533 6647 7399 7401 7422 762 80201 83552 84059 847 9128 9129 9131 9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112145	retinitis pigmentosa 88 Aliases: RP88	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112143	retinitis pigmentosa 86 Aliases: RP86	KIAA1549	57670	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112142	retinitis pigmentosa 85 Aliases: RP85	AHR	196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112141	retinitis pigmentosa 84 Aliases: RP84	DHX38	9785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110361	retinitis pigmentosa 75 Aliases: RP75	AGBL5	60509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110401	retinitis pigmentosa 74 Aliases: RP74	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	Alliance of Genome Resources

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