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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6526 - 6550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2559	opiate dependence Aliases: Opioid type dependence	ABAT ADH1B ALDH2 COMT CYP2B6 ENO2 GAD1 MDH2 NCAM1 NPY1R PARP9 PIK3CA PIK3CB PIK3CD PIK3CG RGMA	125 1312 1555 18 2026 217 2571 4191 4684 4886 5290 5291 5293 5294 56963 83666	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABO ACACA ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSL4 ACSM3 ADPRS AGA AGPS AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALPL AMACR AMT APEX1 ARSA ARSD ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BAD BCKDHA BCKDHB CAT CD38 CD44 CERS1 CHAT CLEC7A CLN5 CNTN2 CNTN4 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP1A1 CYP1A2 CYP27A1 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 EBP ECHS1 ELOVL4 ENO2 EOGT EXT1 EXT2 FBP1 FCSK FDFT1 FH FKRP FKTN FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GYS1 GYS2 HADHA HADHB HEXA HEXB HGSNAT HIBCH HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 ICAM1 IDH1 IDH2 IDS IL1RAPL1 IL6ST IMPA1 INPP5E ISYNA1 KCNJ11 L2HGDH LARGE1 LGALS3 LMAN2L LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NDST1 NEU1 NGLY1 NPL NPY1R NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 REG3G RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST3GAL5 STS STT3A STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UGT8	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10715 10724 10908 1103 11141 11253 11332 11343 1203 123904 128869 130120 1312 132158 1374 1376 138050 145173 148789 152330 1543 1544 1557 1571 1576 1583 1593 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2182 2203 2218 2222 224 2271 22796 22854 229 22908 22934 23236 23417 23443 23483 23545 23556 23583 23600 249 2517 2530 2538 2539 2571 2572 2581 2619 26275 2639 2645 26503 2653 2717 2719 2720 27306 2731 27315 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2923 29925 29926 29929 29954 2997 2998 3030 3032 3073 3074 31 3155 3158 3251 328 3295 3340 3383 34 3417 3418 3423 35 3572 36 3612 3703 375790 3767 38 3958 4047 4051 410 412 4126 414 4153 4191 4199 4245 4247 43 4351 4360 440138 4534 4594 4668 4669 4758 4886 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 5538 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 5716 572 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7368 7841 79143 79147 7915 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 81562 8398 8399 84197 84342 847 84720 8482 84892 84992 8526 8527 85365 8540 8560 8733 8802 8803 8867 8869 8879 9091 9126 91869 9197 9215 93183 93210 9394 94005 9487 9488 952 9524 9536 960 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1395	schistosomiasis	ABO CD38 CD44 COLEC11 FCER2 FCN2 HPGDS LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 27306 28 284348 3958 4153 5091 78989 952 960	Homo sapiens (human)	DisGeNET
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	MMUT	4594	Homo sapiens (human)	DisGeNET
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	ACAA1 ACAA2 ACAT1 ACAT2 HADHB HSD17B4 OXCT1	10449 30 3032 3295 38 39 5019	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ABAT ABO ACE ACHE ACSL5 ACSL6 ALOX5 ALPI ALPP AMACR ANXA5 ARSH BAAT CALR CD14 CD177 CD22 CD33 CD38 CD48 CD55 CFC1 CHST9 CLEC12A COLEC10 CPT1A CPT2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 EBP FCGR3B FUT1 FUT4 G6PC3 G6PD GGT1 GPI GPX3 GYS1 HAS2 HJV HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IL18R1 INPP5D LGALS9 NAAA NAGLU NANS NCAM1 OGG1 PAFAH1B1 PARP1 PDIA3 PGK1 PGP PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLA2R1 PLCB1 PLCB4 PLCE1 PLCG1 POGLUT1 PTEN SFTPA1 SLC17A5 SMPD3 SOAT1 SPHK1 STS TNF TNFRSF10C TP53	10584 10682 10855 1374 1376 142 148738 1545 1555 1571 1577 160364 1604 1636 18 2215 22925 23236 23305 23556 23600 240 248 250 2523 2526 2539 26503 2678 27163 27306 28 2821 283871 2878 2923 2997 3037 308 3383 3417 3418 347527 3635 3965 412 43 4669 4684 4968 5048 51196 51703 5230 5277 5290 5291 5293 5294 5305 5321 5332 5335 54187 55512 55997 56983 570 57126 5728 60495 653509 6646 7124 7157 811 83539 8794 8809 8877 92579 929 933 945 952 962	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)	DisGeNET
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	ABO ACADVL ATP6V0A2 BAAT CANX GPI HADHA HPSE OTOA PDIA3 SACM1L SELP	10855 146183 22908 23545 28 2821 2923 3030 37 570 6403 821	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:10022	ampulla of Vater benign neoplasm Aliases: tumor of the ampulla of Vater	CALR	811	Homo sapiens (human)	DisGeNET
DOID:9976	heroin dependence	ABAT ADH1B ALDH2 COMT CYP2B6 CYP2C19 ENO2 GAD1 GAD2 HPGDS ICAM1 MDH2 NCAM1 NPY1R PARP9 PIK3CA PIK3CB PIK3CD PIK3CG RGMA	125 1312 1555 1557 18 2026 217 2571 2572 27306 3383 4191 4684 4886 5290 5291 5293 5294 56963 83666	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:0111047	platelet-type bleeding disorder 14 Aliases: BDPLT14 thromboxane synthase deficiency	TBXAS1	6916	Homo sapiens (human)	DisGeNET
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)	DisGeNET
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:0111619	combined D-2- and L-2-hydroxyglutaric aciduria Aliases: D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria combined D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria	SLC25A1	6576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110760	type 1 diabetes mellitus 23 Aliases: IDDM23 Insulin-Dependent Diabetes Mellitus 23	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)	DisGeNET
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)	DisGeNET
DOID:0110529	autosomal recessive nonsyndromic deafness 84A Aliases: DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:10459	common cold Aliases: Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis	ALOX5 CD14 CYP2C19 G6PD GPI HACD1 ICAM1 LYZ MBL2 PLAAT3 SDHD SELP SIGLEC1 SLC17A5	11145 1557 240 2539 26503 2821 3383 4069 4153 6392 6403 6614 9200 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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