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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 **2826 - 2850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1240	leukemia	A4GALT ABO ACACA ACE ACHE ACSL6 AKR1C3 AKR1C4 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CBR1 CD14 CD1D CD22 CD33 CD38 CD44 CD48 CDH13 CH25H CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP3A5 DAG1 DGKA DLAT DLD EBP ENO2 ENOSF1 EXT1 FASN FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GGT1 GLB1 GPI GPX1 GPX3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRC1 KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MBL2 ME2 MICA MRC1 NAMPT NCAM1 NYX OGG1 PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SDC1 SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC35G1 SLC39A8 SMPD2 SMPD3 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C TP53 UGCG UMOD UNG VCAM1 VTCN1	100507436 1012 10135 10682 10855 1109 142 143 1464 151056 1543 1545 1555 1577 1591 159371 160364 1605 1606 1636 1737 1738 2026 2131 2194 2208 2215 22914 22925 22933 23305 2331 248 250 2523 2525 2526 2539 2678 2683 27036 27087 2720 27306 28 2821 283871 2876 2878 28992 3098 3099 31 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3821 3939 3956 3958 4069 4153 4200 43 4360 4684 4968 5048 51548 5226 5290 5291 5293 5294 5305 5315 5319 5335 5336 53947 55300 55512 55556 5563 56983 57103 5728 5742 5743 60506 6184 6382 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7157 7357 7369 7374 7412 7903 79679 811 8505 8644 873 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:12161	peripheral retinal degeneration Aliases: peripheral degeneration of retina	ARSG FKRP FKTN HGSNAT LARGE1 POMGNT1 POMT1 POMT2 RPE	10585 138050 2218 22901 29954 55624 6120 79147 9215	Homo sapiens (human)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	A4GALT ABO BAAT C1GALT1C1 CAT CD22 CLEC1B CYP21A2 DGKE G6PD GPI GRHPR IL1RL1 LIPG MASP1 MBL2 PIGA PLA2G7 SLC35G1 ST8SIA2 TM7SF2	1589 159371 2539 28 2821 29071 4153 51266 5277 53947 5648 570 7108 7941 8128 847 8526 9173 933 9380 9388	Homo sapiens (human)
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	APEX1 GPX3 RBP4	2878 328 5950	Homo sapiens (human)
DOID:9505	cannabis abuse Aliases: marijuana abuse	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:9408	acute myocardial infarction	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLCG1 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SDHB SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5335 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6390 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9173 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0060311	adenoid hypertrophy Aliases: adenoidal hypertrophy enlarged adenoids	SFTPA1 SFTPA2 SFTPD	6441 653509 729238	Homo sapiens (human)
DOID:0110249	cataract 11 multiple types Aliases: CTRCT11	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	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)
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)
DOID:0110138	Bardet-Biedl syndrome 16 Aliases: BBS16	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:3895	apocrine adenoma Aliases: tubular Apocrine adenoma	PIK3CA	5290	Homo sapiens (human)
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	IDUA	3425	Homo sapiens (human)
DOID:1770	toxic megacolon	SMC3	9126	Homo sapiens (human)
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)
DOID:11963	esophagitis Aliases: acute esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)

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