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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 **5851 - 5875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:8536	herpes zoster Aliases: Shingles herpes zona	ARSA CYP11A1 CYP17A1 ENOSF1 GP2 TECTA TNF	1583 1586 2813 410 55556 7007 7124	Homo sapiens (human)
DOID:1025	tuberculoid leprosy Aliases: Smooth leprosy type T leprosy	ICAM1 ICAM2 VCAM1	3383 3384 7412	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	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:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	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)
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GHRL GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 51738 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	ABO ACACA ACACB ACADSB ACAN ACE ACHE ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C ADH5 AGA AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH2 ATP6AP2 B3GAT1 B4GALNT1 B4GALT1 B4GALT5 BAAT CALR CANX CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEL CEPT1 CERS2 CHAT CHGA CHI3L1 CHIT1 CHST3 CLEC16A CLEC1B COMT CPT1A CPT2 CS CSGALNACT1 CTNS CYB5R4 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKQ DHCR7 DLAT DLD DSE EFNA1 ELOVL3 ELOVL4 ELOVL5 ENO1 ENO2 ENPP1 EXT2 FADS1 FADS2 FASN FBP1 FCER2 FCGR3B FCN2 FDPS FKRP FOLR2 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT3 GAPDHS GAS1 GBA3 GBE1 GCK GFPT1 GGT1 GLA GLB1 GLO1 GLUL GNPNAT1 GPI GPIHBP1 GPX1 GPX3 GUSB GYS1 H6PD HACD1 HAS2 HJV HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B4 HSD17B7 HSD3B1 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPP5F INPPL1 IPPK ISYNA1 ITLN1 ITPK1 KDSR KL KLB KLRC3 KLRD1 KLRK1 LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LIPC LPIN1 LPIN2 LPL LY6G6D LYPD5 LYZ MASP1 MASP2 MBL2 MBOAT7 MDH2 MGAM MGAT1 MGAT2 MGAT5 MICA MIOX MMUT MOGAT2 MPG MPI MTM1 MUTYH NAAA NAGLU NAMPT NCAM1 NDST1 OGA OGG1 OGT OLR1 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHX PEMT PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCG1 PMM2 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PRKCSH PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGIS PTGS1 PTGS2 REG1B RENBP RFT1 RTN4R SACM1L SCD SDC2 SDC4 SELE SELL SELP SFTPA1 SFTPC SFTPD SGSH SI SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC33A1 SLC35A1 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA4 STS SUCLA2 SULT1E1 TALDO1 TKFC TKT TKTL1 TKTL2 TM7SF2 TREH UGCG UGT1A1 UMOD UPP1 VCAM1 VCAN VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10390 10400 1048 10554 10555 10559 1056 10724 10747 10855 10942 1103 1113 1116 1118 11181 11332 120227 123099 125 126 128 1312 1374 1376 142 1431 1462 148738 1497 151056 152831 154091 1543 1544 1555 1557 1559 1571 1573 1576 1577 1579 1581 1582 1585 1588 1589 1591 1593 159371 1594 1604 1609 1634 1636 1646 1650 1717 1737 1738 175 176 1942 2023 2026 2132 217 2180 2194 2203 2208 2215 2220 2224 224 22876 22908 22914 22933 231 23175 23236 23274 23409 2350 23583 23659 239 240 247 248 250 2524 2531 2538 2539 2542 2571 2572 2583 2588 2591 26007 2619 2632 26330 2645 26503 266722 2673 2678 2683 27036 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2990 29940 29956 2997 29988 3037 308 30835 3098 3099 31 3158 32 3251 3283 3290 3291 3295 3339 3340 3383 338328 3482 353 3554 36 3635 3636 3705 3823 3824 3945 3948 3956 3957 3958 3960 3990 3992 4023 4069 410 412 4153 4191 4245 4247 4249 43 4350 4351 4534 4594 4595 4669 4684 4968 4973 5091 5105 5106 51167 51266 5130 51477 51478 51548 5167 5209 5236 5290 5291 5293 5294 5310 5313 5319 5320 5329 5331 5335 5373 54658 5506 55586 55600 5563 55790 5589 55902 5648 5652 56624 56848 570 57016 57104 5716 5728 5730 5740 5742 5743 57733 57818 58530 5968 5973 60481 60495 6296 6319 6383 6385 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 64768 6480 6484 64841 65078 6514 6515 6517 6519 6523 653509 6609 6646 6652 6716 6718 6783 6785 6888 7086 7108 7357 7369 7378 7412 7903 79143 79147 7941 79679 79837 80168 80339 8050 81031 811 821 8277 83401 8395 8398 8399 84076 847 8473 8560 8694 873 8778 8803 8807 8809 8877 8972 912 9173 91869 9197 9200 929 9334 9365 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 972 9993	Homo sapiens (human)
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:5075	myxopapillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:0110108	atrial heart septal defect 3 Aliases: ASD3 atrial septal defect 3	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)
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)

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