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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS	35	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADVL	37	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI TALDO1 TPI1	38 4351 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070023	autosomal dominant dyskeratosis congenita 6 Aliases: DKCA6	ACD	65057	Homo sapiens (human)	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ACE ACSL3 ADAM28 ADIPOQ ADM AGT AGTR1 AKT1 APEX1 APOE AREG ARID1A ATM BARD1 BCAS2 BIRC2 BRCA1 BRCA2 CASP7 CCR5 CDH13 CDH1 CDKN1B CHEK2 CLU COMT CTLA4 CTSD CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP2C19 EIF3H ENG ESR1 F10 F5 FANCD2 FAS FGFR2 FOXA1 GPX1 GRB2 HFE HLA-DQA1 HLA-DRB1 HMMR IFNG IGFBP3 IKBKB IL13RA2 IL6 KAT6B KDM4C KDM5B KRAS LHCGR LSP1 LTA MAP3K1 MGMT MIER3 MKI67 MMP1 MMP3 MMP8 MSH2 MUC1 MYC NBN NCOA6 NFKB1 NOD2 NOS3 OGG1 PAK1 PHB1 PIK3CA PON1 PPM1D PRKAA1 PTEN PTPN13 RB1CC1 RELB RNF20 RUNX3 SHMT1 SNW1 SOD2 SOX2 STAT3 SULT1E1 TGFB1 TLR2 TLR4 TNF TNFAIP3 TP53 TSG101 TWIST1 UBR5 UGT1A1 WIF1 XPO5	1012 1027 10286 10765 10863 11197 11200 1191 1234 1312 133 1493 1509 1543 1544 1545 1557 1586 1588 1636 166968 1727 183 185 2022 207 2099 2153 2159 2177 2181 2263 22938 23054 23081 23522 2876 2885 3077 3117 3123 3161 3169 328 329 3458 348 3486 355 3551 3569 3598 374 3845 3973 4046 4049 4214 4255 4288 4312 4314 4317 4436 4582 4609 4683 472 4790 4846 4968 5058 51366 5245 5290 5444 54658 5562 56254 5728 57510 5783 580 5971 64127 6470 6648 6657 672 675 6774 6783 7040 7097 7099 7124 7128 7157 7251 7291 8289 840 8493 864 8667 9370 9821 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ACE ACSM3 ADD1 ADD2 AGTR2 CD14 CFB CHGA CXCR2 FCAR FCGR3A HLA-DQB1 IGF1R IL1RN MTR MUC20 NGF PDE5A PLA2G7 SELE SELL SERPINB7 SPRY2 STAT4 TLR1 TLR9 TNFRSF1A TNFRSF1B	10253 1113 118 119 1636 186 200958 2204 2214 3119 3480 3557 3579 4548 4803 54106 629 6296 6401 6402 6775 7096 7132 7133 7941 8654 8710 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	ACE ACVR1B APC ARID1A ATP4B BCOR BRCA1 CHRNA3 CXCR4 CYP1A1 CYP2E1 DDR2 EEF2 ERBB2 ERCC5 ERCC6 EZH2 FGFR2 FGFR4 FOSL1 FOXA1 FUT11 GPX1 GPX3 GSE1 HDAC2 HLA-DQA1 IL10 IL1RN IL5 IL6 IL6R IL7R JAK1 KDM6A KDR KMT2C KRAS LRP1B MAP3K1 MUTYH NTRK3 PIK3CA PTCH1 PTPN11 SOD2 TEP1 TET2 TMEM260 TP53 XRCC1	1136 1543 1571 1636 170384 1938 2064 2073 2074 2146 2263 2264 23199 2876 2878 3066 3117 3169 324 3557 3567 3569 3570 3575 3586 3716 3791 3845 4214 4595 4916 4921 496 5290 53353 54790 54880 54916 5727 5781 58508 6648 672 7011 7157 7403 7515 7852 8061 8289 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ACE ADD1 ADRB2 AGER AGT AGTR1 ALDH2 ANXA5 APEX1 APOA1 APOA4 APOE APOH BRINP3 CCL2 CCR2 CD14 CIITA CLU COL4A1 COL6A3 CSF3 CTLA4 CYP2J2 CYP2R1 EPO ESR1 F12 F13A1 F2 F5 F7 FGB FTO GCLC GP1BA GP6 HFE HGF HIF1A HP IL10 IL18BP ITGA2 ITGB3 ITIH4 KCNN4 KDR KLK1 LGALS2 LIPG LPA LPL LRP1 LRP8 LRPAP1 LTA MLXIPL MMP14 MMP1 MMP3 MMP9 NGF NOS3 NPPA NPPB NPR1 NR1H3 NRG1 OLR1 PAPPA PCSK2 PECAM1 PGF PLAT PLAU PON1 PPARA PSMA6 PTGIS PTGS2 SELP SERPINE1 SOD1 SOD3 SPP1 TFPI TGFB1 TLR4 TNFSF4 VEGFB	10062 10068 118 1191 120227 1282 1293 1440 1493 154 1573 1636 177 183 185 2056 2099 2147 2153 2155 2161 2162 217 2244 2729 2811 3077 308 3082 3084 3091 3240 328 335 337 339479 348 350 3586 3673 3690 3700 3783 3791 3816 3957 4018 4023 4035 4043 4049 4261 4312 4314 4318 4323 4803 4846 4878 4879 4881 4973 5054 5069 51085 51206 5126 5175 5228 5327 5328 5444 5465 5687 5740 5743 6347 6403 6647 6649 6696 7035 7040 7099 7292 729230 7423 7804 79068 929 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ADRB1 BDNF EDN1 EDNRA LEPR MMP9 NOS3 NRG1 SLC6A4 TNF	153 1636 1906 1909 3084 3953 4318 4846 627 6532 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ACE ADRB2 AGTR2 BDKRB1 CCL2 CD40 CHGA COL3A1 COL4A3 COL4A4 CTLA4 CXCR2 CYP1A1 CYP2C8 DRD2 ENPP1 F5 FGB GLO1 IL1A IL1RN ITGA8 ITGB3 KLK1 MBL2 MMP1 MMP3 MPO MYH9 NGF NOS3 PLAU PPARG SLC9A5 UCP2 VWF	1113 1281 1285 1286 1493 154 1543 1558 1636 1813 186 2153 2244 2739 3552 3557 3579 3690 3816 4153 4312 4314 4353 4627 4803 4846 5167 5328 5468 623 6347 6553 7351 7450 8516 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ACE ADRB2 HSPA1B IL10 IL1RN MBL2 PROC SERPINC1 SERPINE1 SERPING1 SFTPB TFPI	154 1636 3304 3557 3586 4153 462 5054 5624 6439 7035 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE AGER ALDH2 APOC3 APOM BCHE BTC CCL5 CCR2 CD28 CD38 CD80 CD86 CEL CFB CLEC16A CTLA4 CYP27B1 CYP2R1 EIF2AK3 F7 GAD2 GC HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HSD11B2 ICAM1 IGF2R IGFBP3 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL6 INS ITPR3 LTA NOTCH4 PRRC2A PTPRN2 PTPRN REG1A SLC11A1 SOD1 SOD2 SREBF2 TAP1 TBP TF TLR2 TLR3 TNF WFS1 XYLT1	1056 120227 1493 1594 1636 177 2155 217 23274 2572 2638 3113 3115 3117 3119 3123 3291 3383 345 3482 3486 3552 3554 3557 3558 3559 3569 3600 3630 3710 4049 4855 55937 5798 5799 590 5967 629 6352 64131 6556 6647 6648 6721 685 6890 6908 6927 7018 7097 7098 7124 729230 7466 7916 940 941 942 9451 952	Homo sapiens (human)	Alliance of Genome Resources
DOID:576	proteinuria	ACE AGER IL1RN MYH9 PLA2G7 SNRPD1 TLR9	1636 177 3557 4627 54106 6632 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ACE AGT ANK2 KCNE1 KCNE2 KCNJ5 KCNQ1 MMP1 MMP3 VWF	1636 183 287 3753 3762 3784 4312 4314 7450 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:11123	IgA vasculitis Aliases: Allergic purpura Autoimmune purpura HSP Henoch Schoenlein purpura Henoch Scholein purpura Henoch Schonlein purpura Henoch Schönlein purpura Henoch-Schoenlein purpura Henoch-Scholein purpura Henoch-Schonlein purpura Henoch-Schönlein purpura IgAV Purpura, autoimmune immunoglobulin A vasculitis	ACE AGT CCL2 CD86 HLA-DQA1 IL1RN MEFV PON1	1636 183 3117 3557 4210 5444 6347 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	ACE AGT CD14 CYSLTR1 FCGR3A HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IL13 LTA MIF TAP1	10800 1636 183 2214 3117 3119 3122 3123 3596 4049 4282 6890 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE AGT CD46 CLU CORIN CYP11B2 F2 F5 FAS FASLG FLT1 HLA-A HLA-DQB1 HNF1A HP HSD11B1 ITGAM PPARG PROC TNF TNFRSF1B VEGFA	10699 1191 1585 1636 183 2147 2153 2321 3105 3119 3240 3290 355 356 3684 4179 5468 5624 6927 7124 7133 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ACE AGT DCHS1 DZIP1 FBN1 FLNA HLA-B PLAU TSHR	1636 183 2200 22873 2316 3106 5328 7253 8642	Homo sapiens (human)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	ACE AGT GLA IL1A	1636 183 2717 3552	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11335	sarcoidosis Aliases: Boeck sarcoid lymphogranulomatosis	ACE AGTR1 BTNL2 CCR2 CCR5 CD14 CFH CMA1 CTLA4 HLA-B HLA-DQB1 HLA-DRB1 IL23R PTGS2 SLC11A1	1215 1234 149233 1493 1636 185 3075 3106 3119 3123 56244 5743 6556 729230 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:1324	lung cancer	ACE ALX4 ATR CALR CCDC116 CFTR CHD4 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COMT CSF1R CYP1A1 CYP24A1 DAGLA DVL3 EGFR ERBB2 ERCC6 EZH2 FASLG FOXA1 GPX1 HS3ST2 IDH2 IL1R2 IRS4 KRAS LRP1B MAP2K4 MAT2A MBD4 MBL2 MLH1 MMP1 MPO MPZL3 MSH2 MYD88 NAT2 NCOA6 NOD2 PIK3CA POLE RAC1 RBM10 RECQL RICTOR RNASET2 SETDB1 SOD2 SOX30 SOX9 STIM1 TRPC4 TRPC7 XRCC1 XRN2	10 1080 11063 1108 1136 1138 1139 1143 1312 1436 1543 1591 1636 164592 1857 1956 196264 2064 2074 2146 22803 23054 253260 2876 3169 3418 356 3845 4144 4153 4292 4312 4353 4436 4615 5290 53353 5426 545 57113 5879 5965 60529 64127 6416 6648 6662 6786 7223 747 7515 7850 81037 811 8241 8471 8635 8930 9869 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	ACE ANK1 EPOR G6PD GPX1 HK1 PON1 SLC11A2 TF	1636 2057 2539 286 2876 3098 4891 5444 7018	Homo sapiens (human)	Alliance of Genome Resources

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