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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 **15551 - 15575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	ACVR1 APOE CLU EDN1 ELN LOXL1 LYST MMP1 MMP9 OPTN PON1 SOD2 STRA6 TLR4	10133 1130 1191 1906 2006 348 4016 4312 4318 5444 64220 6648 7099 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	ACVR1 APEX1 COL4A2 ERAP1 ERAP2 GPX3 LNPEP RBP4	1284 2878 328 4012 51752 5950 64167 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ACVR1 ADIPOQ ADRB2 APOE BDNF COL6A3 CYP1B1 EDN1 ELN GLUL LAMB2 LOXL1 MBL2 MMP1 MMP9 MYOC NOS3 OGG1 OPA1 OPTN PON1 SOD2 THBS1 TLR4 TNF TP53 WDR36	10133 1293 134430 154 1545 1906 2006 2752 348 3913 4016 4153 4312 4318 4653 4846 4968 4976 5444 627 6648 7057 7099 7124 7157 90 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1 ACVRL1 BMP4	652 90 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	ACTR2 AGER AKAP12 ANTXR1 BMI1 BRCA1 BRCA2 BRD7 CA12 CALU CAT CD59 CHI3L1 CSF1R CXCR4 EFNB2 ERCC6 EZH2 FUBP1 GPX2 GPX3 IL2 IL6 ITGB3 MAPK14 MBD4 MSH6 MYD88 NCOA2 NF1 PHF6 PIK3CA PTPRB RAC1 SELENOP SMAD4 SMARCC1 SRC STAT3 STRAP TP53 XPO1 XRCC1	10097 10499 1116 11171 1432 1436 177 1948 2074 2146 2877 2878 29117 2956 3558 3569 3690 4089 4615 4763 5290 5787 5879 6414 648 6599 6714 672 675 6774 7157 7514 7515 771 7852 813 84168 84295 847 8880 8930 9590 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACTR1A CBS CTSS DBN1 DOP1A DOP1B DSCAM DSCAML1 DYRK1A HSPD1 IGFBP3 MMP9 MTHFD1 PCNT POFUT2 RELN RPLP0 SNAP25 SOD1 SRSF4 SYNJ1 SYNJ2 TIMP1 TUBA1A	10121 1520 1627 1826 1859 23033 23275 3329 3486 4318 4522 5116 5649 57453 6175 6429 6616 6647 7076 7846 875 8867 8871 9980	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACTR1A ACVR2A AKT1 AKT3 APC ARID1A ATR AZGP1 BAD BRCA1 BRD4 CALR CASP7 CBS CCL2 CHAF1A CHKA CHUK COL6A3 CRIPTO CYP24A1 CYP2E1 EZH2 FGFR4 GPX1 GSK3B HS3ST2 HSP90AA1 IKBKB IL10 IL7R JUNB KDM3A LCN2 LGALS3 LIF LRP1B MAP2K3 MAPK14 MKI67 MLH1 MMP3 MRE11 MSH2 MTOR MUC2 NCOA6 NF1 PLCG1 PPARG PRKAA1 PTEN PTGER3 PTPN13 REG1A REG1B RICTOR RNF43 RPS6KB1 SLC7A5 SLCO1B3 SMAD4 SMO SRC STAT3 TGFB1 TGFB3 TGFBR2 TNFAIP3 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D UBR5 VEGFA WNT5A	10000 10036 10121 1119 1147 1293 1432 1571 1591 207 2146 2264 23054 23476 2475 253260 28234 2876 2932 324 3320 3551 3575 3586 3726 3934 3958 3976 4089 4288 4292 4314 4361 4436 4583 4763 51366 5335 53353 545 5468 54894 5562 55818 5606 563 572 5728 5733 5783 5967 5968 6198 6347 6608 6714 672 6774 6997 7040 7043 7048 7128 7422 7474 811 8140 8289 840 875 8793 8794 8795 8797 92 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACTN4 AGT AGTR1 AGTR2 ANGPT2 CASP9 CD2AP CMAS HSPB1 LIPC LPL MMP2 MMP9 MYO9A PIAS1 PPP3CA SERPINE1 SHH SRGAP1 TMEM63C TRPC6 VLDLR VWF	183 185 186 23607 285 3315 3990 4023 4313 4318 4649 5054 5530 55907 57156 57522 6469 7225 7436 7450 81 842 8554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC1 DSC2 DSC3 DSG2 DSP IL6R JUP LMNA PKP2 PPP1R13L RYR2 SCN5A TGFB3 TMEM43	1000 10848 1674 1823 1824 1825 1829 1832 3570 3728 4000 5318 6262 6331 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111053	platelet-type bleeding disorder 15 Aliases: BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related	ACTN1	87	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	ACTB REN	5972 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:422	congenital structural myopathy	ACTB MTM1	4534 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:423	myopathy	ACTB CLCN2 CLCNKB COL15A1 COL18A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM2 FHL1 FLNA FLNB FLNC HMGCR HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 LDB3 LMNA LMNB1 LMNB2 MEGF10 MEGF11 MTM1 MTMR1 MTMR2 MYBPC2 MYH15 MYH1 MYH7 NPL PDLIM5 PDLIM7 PEAR1 PSMC5	10611 11155 1181 1188 1282 1285 1286 1287 1288 1306 144983 1785 220988 2273 22989 2316 2317 2318 3156 3178 3181 375033 4000 4001 4534 4606 4619 4625 5705 60 80781 80896 84465 84466 84823 8776 8898 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	ACTB ANKRD26 CCL2 F7 FCGR2A FGA FLI1 FYB1 GALE GNE IL10 IL6 ITGA2 ITGA2B ITGB3 KDSR MASTL MBL2 MPL MYH9 PTPRJ SRC TBXA2R THPO TNF	10020 2155 2212 2243 22852 2313 2531 2533 2582 3569 3586 3673 3674 3690 4153 4352 4627 5795 60 6347 6714 6915 7066 7124 84930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	ACTB ACTC1	60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	ACTA2 GJC2 PGF	5228 57165 59	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:0081339	congenital myopathy 2B	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources

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