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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 **3401 - 3425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	CEACAM5 HACD1	1048 9200	Homo sapiens (human)	DisGeNET
DOID:12211	filarial elephantiasis Aliases: Bancroftian elephantiasis Bancroftian filarial chyluria Lymphatic filariasis elephantiasis of eyelid	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ABO ACACA ACADM ACADS ACAN ACAT1 ACE ACHE ACLY ACOT7 ACSL5 ACSL6 ACSS2 ADIPOQ ADRB3 AGPAT2 AKR1B1 ALDH2 ALDH7A1 ALG12 ALG9 ALOX12 ALOX15 AMACR ANXA5 APRT ARSB ARSD ATP6AP2 ATP6V1A BDH1 CALR CAT CBR3 CD14 CD44 CDS1 CDS2 CERS1 CERS5 CHGA CHI3L1 CHPT1 CNTN5 COG7 CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F3 DAG1 DCN DGAT1 DLD DLST EBP ELOVL6 ENO2 ENPP1 EPHX2 FADS1 FADS2 FASN FDPS FH FKRP FKTN FMOD G6PD GAD1 GAL3ST1 GALNT1 GAPDH GBA1 GBE1 GLA GLB1 GNPTAB GPD1L GUSB HADH HADHA HADHB HJV HK2 HMGCL HPGDS HSD11B1 HSPG2 HTR2A ICAM1 IDS IGF2R IL1RL1 INPPL1 ISYNA1 ITPK1 KL KLRK1 LCAT LEPR LGALS16 LGALS1 LGALS3 LIPC LPIN2 LPL LY75 LYZ MCAT MDH2 ME1 MGAT1 MMUT MPI MRC1 NAGLU NAMPT NANS NCAM1 NDUFAB1 NPL NT5E NTM OGA OGDH OGT OLR1 PAFAH1B1 PARP1 PCK1 PGK1 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLA2G2A PLA2G7 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP3 PNPLA2 POFUT1 PPP1CC PPP1R3A PPT1 PRKAA2 PTEN PTGIS PTGS1 PTGS2 RBP4 RENBP SCD SDC1 SDC2 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELP SFTPD SGPL1 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMPD2 SMUG1 SOAT1 SPHK1 SRGN STS SUCLA2 SULT1E1 TM7SF2 TMTC3 TNF TPI1 UCP2 UGT1A1 UGT2B7 UMOD VCAM1 XYLT1 XYLT2	10135 10159 1040 10555 10559 10682 10715 10724 1113 1116 11332 1374 1375 1376 142 1431 148003 148738 1543 1544 1545 155 1555 1557 1571 1573 1576 1577 1584 1585 1594 160418 1605 1634 1636 1738 1743 176 1836 2026 2053 217 2194 2218 2224 2271 22914 231 23171 23305 2331 23509 23583 23600 23659 239 246 2539 2571 2589 2597 2629 2632 26503 27111 2717 2720 27306 27349 28 2990 3030 3032 3033 308 3099 31 3155 3290 3339 3356 3383 34 3423 3482 35 353 3636 3705 38 3931 3953 3956 3958 3990 3992 4023 4051 4065 4069 411 412 414 4191 4199 4245 43 4351 4360 4594 4669 4684 47 4706 4907 4967 4973 501 5048 50863 5105 51196 51477 51548 5167 51703 523 5230 5281 5290 5291 5293 5294 5310 5311 5320 5333 5335 5337 5338 53942 54187 54658 5501 5506 5538 5552 5563 55902 56994 57104 5728 5740 5742 5743 5950 5973 622 6319 6382 6383 6385 6389 6390 6391 6392 6401 6403 64116 64131 64132 6441 6517 6523 6609 6610 6646 6783 7108 7124 7167 7351 7364 7369 7412 79071 79087 79147 79158 7941 79796 80896 81031 811 847 8473 8613 8694 874 8760 8803 8877 8879 91012 9173 91949 9197 929 9365 9370 9415 9514 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1570	ectropion Aliases: Ectropion of eyelid Everted margin	ALOX12B CERS3 CYP1B1 GBA1 SULT2B1	1545 204219 242 2629 6820	Homo sapiens (human)	DisGeNET
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)	DisGeNET
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	CD38	952	Homo sapiens (human)	DisGeNET
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)	DisGeNET
DOID:4188	echolalia	ATP6AP2 HGSNAT SLC35C1	10159 138050 55343	Homo sapiens (human)	DisGeNET
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO CYP1A1	1543 28	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)	DisGeNET
DOID:2742	auditory system disease Aliases: ear and mastoid disease	CD14 SLC26A2	1836 929	Homo sapiens (human)	DisGeNET
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)	DisGeNET
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:543	dystonia Aliases: dystonic disease	ACER3 ACHE ACOX1 ACSF3 ADH1C AGA ALDH5A1 ALDH6A1 ARSA ARSG ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP27A1 CYP2U1 DBT DEGS1 DHDDS DLAT DLD DPEP1 ECHS1 GAD1 GBA1 GCDH GLB1 GM2A GPI GPX1 HEXD HIBCH HPRT1 INPP5K L2HGDH LMAN2L MAN1B1 MBOAT7 MDH2 MECR MMUT MYORG NDST1 OGA PAFAH1B1 PCCA PCCB PDHA1 PDHX PGAP1 PIGC PIGP PIGQ PIK3CA PLA2G6 PSAP PTEN RENBP SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10724 11253 113612 126 1312 148789 1593 1629 1727 1737 1738 175 1800 1892 197322 22901 23583 2571 2583 26275 2629 2639 2720 2760 2821 284004 2876 3251 3340 410 4191 43 4329 4594 5048 5095 5096 51 51102 51227 5160 51763 523 5279 5290 55331 5660 5728 57462 5973 6342 6389 6392 64116 6487 7167 79143 7915 7991 79944 79947 80055 8050 81562 8398 8560 8803 8867 8869 9091 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4441	dysgerminoma	CD14 CYP19A1 CYP27B1 OPCML PGD PIK3CA PTEN	1588 1594 4978 5226 5290 5728 929	Homo sapiens (human)	DisGeNET
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)	DisGeNET
DOID:12384	dysentery Aliases: Infectious diarrhea	ACOT7 APRT IL18R1 LCT LYZ SULT1E1	11332 353 3938 4069 6783 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:100	intestinal infectious disease Aliases: bacterial enteritis	APRT FDPS ICAM1 IL18R1 LCT LYZ PLA2G4A ST8SIA2	2224 3383 353 3938 4069 5321 8128 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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