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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 **1526 - 1550** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:10824	malignant hypertension	ACE CYP17A1 CYP1A1 SLC33A1	1543 1586 1636 9197	Homo sapiens (human)
DOID:5042	malignant granular cell myoblastoma Aliases: granular cell tumor, malignant malignant granular cell neoplasm malignant granular cell tumor	SMUG1	23583	Homo sapiens (human)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	CD74 FDPS IDH1 IDH2 IL1R1 LYZ MACROD2 NANS PIK3CA PIK3CB PIK3CD PIK3CG PPARGC1A PTEN PTGS2	10891 140733 2224 3417 3418 3554 4069 5290 5291 5293 5294 54187 5728 5743 972	Homo sapiens (human)
DOID:1795	malignant exocrine pancreas neoplasm Aliases: malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas	ABO PC	28 5091	Homo sapiens (human)
DOID:0080190	malignant epithelioid hemangioendothelioma	SMUG1	23583	Homo sapiens (human)
DOID:4489	malignant epithelial mesothelioma	CEACAM5 GPC1 HSPG2 ITLN1 VCAN	1048 1462 2817 3339 55600	Homo sapiens (human)
DOID:1751	malignant conjunctival melanoma Aliases: Conjunctival melanoma malignant melanoma of conjunctiva	MICA PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:6438	malignant choroid melanoma Aliases: malignant melanoma of choroid melanoma of the Choroid	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 AKT1 AKT2 ALOX5 APRT ATRN B3GAT1 BDH2 BRAF BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS1 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 207 208 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3956 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 673 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:5890	malignant adult ependymoma	PTEN	5728	Homo sapiens (human)
DOID:12336	male infertility	ACE ACSBG2 ACSL6 ALDH2 ANXA5 ATP6V0A2 CAT CCDC115 CLC CLEC7A COMT CTNS CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 ENO1 ENO4 GALNTL5 GBA2 GPX3 HPGDS LDHC MPG OGG1 PDHA2 PDIA3 PGAM4 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 RGN SRGN	1178 1312 1497 1543 1545 1555 1586 1588 1636 168391 2023 217 23305 23545 27306 2878 2923 308 387712 3948 4350 441531 4968 5161 5290 5291 5293 5294 5538 5552 57704 64581 81616 84317 847 9104	Homo sapiens (human)
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CYP17A1 CYP19A1 CYP1B1 HSD17B1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1545 1586 1588 23583 3292 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:12365	malaria Aliases: induced malaria	ABO ACACA ACE ACHE ACOT7 ADH1B AKR1A1 ALOX5 ANXA4 ANXA7 B3GAT1 CAT CD14 CD1D CD55 CDH13 CEL CERS1 CFC1 CHI3L1 CHIT1 CS CYP1A2 CYP2B6 CYP2C19 CYP2C8 CYP3A4 ENO2 ENOSF1 FCGR3B FCN2 FUT9 G6PD GAPDH GLO1 GOLPH3 GPX1 H6PD HK1 HPGDS HPRT1 HPSE HSD11B1 ICAM1 IL18R1 IL1R1 ISYNA1 LMAN1 MASP2 MBL2 MCAT MOGS MPPE1 NANP PGAM1 PGD PGLS PGM1 PKLR PNP POFUT2 POMGNT2 PSAP PTGS2 SDC1 SELE SPHK1 TMED9 TNF UMPS VNN1 VNN2	1012 10327 1056 10690 10715 10747 10855 1116 1118 11332 125 140838 1431 1544 1555 1557 1558 1576 1604 1636 2026 2215 2220 23275 240 2539 25796 2597 27087 27306 27349 2739 28 2876 307 3098 31 310 3251 3290 3383 3554 3998 4153 43 4860 51477 5223 5226 5236 5313 54732 55556 55997 5660 5743 6382 6401 64083 65258 7124 7372 7841 847 84892 8809 8875 8876 8877 912 929 9563	Homo sapiens (human)
DOID:0060862	mal de Meleda Aliases: Meleda disease keratosis palmoplantaris transgrediens of Siemens transgrediens palmoplantar keratoderma of Siemens	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 MMUT PARP1 PIGL PIK3CA PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 4594 5290 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	ABAT ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 B3GLCT BST1 CACNA2D1 CALR CAT CD14 CD38 CDH13 CHAT CHI3L1 CHPF CHPT1 CHST9 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 CYP7B1 DAG1 DEGS1 DGKB DGKG DHDDS DLD DPY19L3 EDEM1 ELOVL5 ENO2 EPHX2 EPM2A FADS1 FADS2 FDPS FIG4 FUT3 GAD1 GAD2 GALC GBA1 GLA GLB1 GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 GPX6 HACD3 HPGDS HPSE HS6ST1 HSD11B1 HSD3B2 HTR2A ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LARGE1 LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDH2 ME1 MGAM MGAT4B MPG MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP15 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELE SELP SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST6GALNAC2 ST8SIA4 STT3A SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG UPP2 VCAM1 XYLT2	1012 10159 10327 10610 10855 10858 10908 1103 1109 1116 11253 11282 11332 116285 125 126 1298 1312 1374 142 1431 145173 1463 1464 147991 148789 151056 151531 1544 1555 1557 1559 1571 1576 1586 1588 1589 1593 159371 1605 1607 1608 1636 1646 165631 166929 1738 18 2026 2053 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2525 2571 2572 257202 2581 26253 2629 26503 266727 27036 27087 2717 2720 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 2923 307 31 32 3284 3290 3340 3356 3383 340075 3423 3425 353 3554 3613 3636 3703 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5313 5319 5320 5321 5332 5335 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 60481 6319 6392 6401 6403 64083 64132 6448 6476 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8972 9104 9197 9215 929 9348 9365 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	ACE CALR CAT	1636 811 847	Homo sapiens (human)
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT BAD CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 TLR4 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 572 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7099 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CAT CHST6 LCAT MLYCD PLB1 SLC35A2	151056 23417 3931 4166 7355 847	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 UGCG UGT1A1 UMPS	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 729920 7357 7372 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA ARSA ARSB ARSG ARSI ARSK ASAH1 CD1D CHIT1 CTNS CTSA FIG4 FUCA1 FUT1 GAA GALC GALNS GBA1 GLA GLB1 GNPTAB GNPTG GNS GPNMB GUSB HEXA HEXB HSD17B1 HYAL1 IDS IDUA IGF2R LIPA MAN2B1 MANBA MGAM NAGLU NEU1 OGA PIP4K2A PPT1 PRKAA2 PSAP SGSH SI SLC17A5 SMPD1 SUMF1	10457 10724 1118 1497 153642 175 22901 2517 2523 2548 2581 2588 2629 26503 2717 2720 2799 285362 2990 3073 3074 3292 3373 340075 3423 3425 3482 3988 410 411 4125 4126 427 4669 4758 5305 5476 5538 5563 5660 6448 6476 6609 79158 84572 8972 912 9896	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)

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