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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 **2601 - 2625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:7365	Kimura disease Aliases: Kimura's disease	CD48 FUT4 LGALS9 MLYCD SMUG1	23417 23583 2526 3965 962	Homo sapiens (human)
DOID:4441	dysgerminoma	CD14 CYP19A1 CYP27B1 OPCML PGD PIK3CA PTEN	1588 1594 4978 5226 5290 5728 929	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	PTEN	5728	Homo sapiens (human)
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	CD38 LSS	4047 952	Homo sapiens (human)
DOID:3183	childhood oligodendroglioma Aliases: pediatric Oligodendroglioma	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	PRNP	5621	Homo sapiens (human)
DOID:0060407	chromosome 18q deletion syndrome Aliases: 18q- syndrome deletion 18q monosomy 18q	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)
DOID:3612	retinitis	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CHAT CHI3L1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PLA2G7 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5338 55624 56848 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ACLY ACSL4 ADH1C AGRN AKR1A1 AKR1B10 AKR1C2 ALDH1A3 ALDH3A1 ALDOA ALOX12B ALOX5 AMY1A AMY1B AMY1C ANXA5 APRT B4GALT1 CALR CANX CAT CD44 CD74 CEACAM5 CEACAM6 CEACAM7 CLEC10A CLEC14A CNTN1 CPM CTSA CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 DCN DGKA DHDDS DLD EFNA1 ENO1 ENO2 FASN FOLR2 FUT1 FUT2 FUT3 FUT4 G6PD GAD1 GALK2 GALNT14 GALNT3 GALNT6 GAPDH GBE1 GLB1 GMDS GPC1 GPC3 GPC5 GPI GPX2 GPX3 GUSB HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 ICAM1 IDH1 IDH2 IDH3A IGF2R ISYNA1 LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LPCAT1 LPIN1 LPL LYPD5 MCAT MELTF MGLL MICA MMUT MRC1 MTAP NCAM1 OGG1 OLR1 OPCML PAFAH1B1 PARG PARP1 PFKFB3 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G10 PLA2G2A PLAUR PLB1 PLCG1 PMM2 PRKAA2 PRNP PTEN PTGES3 PTGS2 RECK REG1B RGN RTN4R SCD SDC1 SDC2 SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SIRT6 SLC2A10 SLC2A3 SLC2A5 SLC35A4 SLC3A2 SMUG1 SOAT1 SRGN SULF1 SULF2 TIGAR TM7SF2 TNKS TPI1 UGT1A3 UGT2B17 UGT8 VCAM1 XXYLT1	100507436 10327 10462 1048 10728 10855 1087 11226 11343 113829 126 1272 1368 142 151056 152002 1543 1544 1545 1555 1571 1576 1577 1588 1589 1591 1606 161198 1634 1646 1738 1942 2023 2026 218 2182 2194 220 226 2262 23175 23213 2350 23556 23583 240 242 2523 2524 2525 2526 2539 2571 2585 2591 2597 2632 2683 2719 2720 27306 27349 276 2762 277 278 2817 2821 284348 2877 2878 2990 308 3098 3099 3161 3251 3383 3417 3418 3419 3482 353 375790 3939 3945 3948 3956 3958 3960 4023 4241 4360 4507 4594 4680 4684 47 4968 4973 4978 5048 51477 51548 5209 5290 5291 5293 5294 5311 5315 5320 5329 5335 5373 54659 5476 5552 5563 55959 5621 57016 57103 5728 5743 5968 6319 6382 6383 6403 6440 6441 6470 65078 6515 6518 6520 653509 6646 7108 7167 729238 7367 7368 7412 79623 79888 79947 81031 811 821 8399 8434 847 8482 8505 8658 90161 9104 960 972	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:3488	cellulitis	PIK3CD PLCG2 SLC35A1 SLC35C1	10559 5293 5336 55343	Homo sapiens (human)
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	ABO CYP1A1 IDH1 MBL2 PARP1 PIK3C3 PTEN SFTPA2 SFTPD SLC2A10	142 1543 28 3417 4153 5289 5728 6441 729238 81031	Homo sapiens (human)
DOID:5162	arteriolosclerosis	ABO ACACA ACAN ACAT1 ACE ACER2 ACLY ACOT7 ACSL1 ACSS2 ADH5 AGPAT2 AGXT AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSB ARSI ATP6AP2 ATP6V0A2 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DHCR24 DLD ELOVL6 ENPP1 ENPP7 EPHX2 FADS1 FADS2 FCGR3B FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAL3ST1 GCK GLO1 GPI GPIHBP1 GPX1 H6PD HACD4 HAS2 HAS3 HPGDS HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL1RL1 INPP5D INPP5K KL KLRK1 LCAT LDHA LGALS3 LIPA LIPC LIPG LPCAT3 LPL LTA4H LYPLA1 LYZ MBL2 MGLL MICA MMP17 MRC1 MTAP NAAA NAGLU NAMPT NANS NDUFAB1 NEU1 NT5E OGA OGG1 OLR1 PARP1 PARP3 PC PCYT1B PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLAUR PLB1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SIGLEC1 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC33A1 SLC35A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 TBXAS1 TM7SF2 TPI1 TYMP UMOD VCAM1 VCAN VNN1	10039 100507436 1012 10135 10159 10162 10400 10434 10555 10559 1056 10724 10855 1113 1116 1118 11332 11343 128 1312 1376 142 1462 1486 151056 1543 1544 1555 1557 1558 1559 1571 1573 1576 1577 1581 1588 1593 1594 1605 1634 1636 166929 1718 1738 176 189 1890 2053 217 2180 2215 2224 22914 22933 231 2331 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 259230 26253 26279 2645 26503 27163 27180 27306 2739 28 2821 283420 2876 3037 3038 308 31 3290 3339 3383 338328 339221 340075 340485 3418 3482 353 3635 38 3931 3939 3958 3988 3990 3992 401494 4023 4048 4069 411 412 4153 4326 4360 4507 4669 47 4706 4758 4860 4907 4968 4973 5067 5091 51548 5167 51763 5290 5291 5293 5294 5315 5319 5320 5321 5329 54187 55454 55512 5563 55902 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5973 6319 6342 6382 6385 6401 6402 6403 64116 6441 64581 6480 6484 6489 653509 6609 6610 6614 6646 6916 7108 7167 729238 7369 7412 79071 7941 79660 80339 81035 811 81579 821 8398 8399 8435 847 8482 8529 8605 8613 8694 8803 8876 8877 8879 9023 912 9173 9197 929 93589 9365 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)

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