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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 **4476 - 4500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1188	mononeuropathy	IDH1 IDH2 SDHD	3417 3418 6392	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3127	proctitis	CALR CAT CEACAM5 CEACAM6 CEACAM7 COG6 GP2 LYZ MUTYH PARP1	1048 1087 142 2813 4069 4595 4680 57511 811 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SMUG1 SOAT1 TNF VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 23583 3820 4153 5167 5743 6646 7124 729238 929 9365 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4897	bile duct carcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6067	ovarian mucinous neoplasm Aliases: Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:4195	hyperglycemia	ACACA ACAT1 ACE ACHE ACSM3 AKR1B1 ALDH2 ALDOB ANXA5 APRT ARSA ASAH1 CAT CD33 CD44 CEACAM5 CEL CERS2 CPT1A CPT2 CTSA CYP11A1 CYP1B1 CYP2C9 CYP2E1 DCN DEGS1 DGKD DLD ELOVL1 ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FASN FBXO2 FCGR3B G6PC1 G6PC2 GAD1 GAL3ST1 GALNT2 GCK GFPT1 GFPT2 GGT1 GLDC GLO1 GLUL GPX1 GPX5 GUSB GYS2 HAS2 HK2 HK3 HKDC1 HPGDS HPRT1 HPSE HSD11B1 HSPG2 HTR2A ICAM1 IL1R1 INPP5F KL KLRK1 LDHA LEPR LGALS1 LGALS3 LPCAT3 LPL MBL2 MCAT MGAM MPG NAMPT NEU1 OGG1 PARP1 PC PCK1 PCK2 PDHX PDX1 PFKM PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PNPLA3 PPARGC1A PRKAA2 PRNP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC2 SDC4 SELE SGPL1 SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC35G1 SLC5A1 SMUG1 SOAT1 SORD ST3GAL4 SULT1E1 TKT TM7SF2 UGCG VCAM1 VCAN	10135 10162 1048 10559 1056 10855 10891 1374 1376 142 1462 151056 1545 1559 1571 1583 159371 1634 1636 1738 2023 2026 2053 217 2194 2215 22876 229 22914 22933 231 23583 2538 2571 2590 26232 2645 26503 2673 2678 27036 27306 2731 27349 2739 2752 2876 2880 2990 29956 2998 3037 308 3099 31 3101 3251 3290 3339 3356 3383 353 3554 3651 38 3939 3953 3956 3958 4023 410 4153 427 43 4350 4758 4968 5091 5105 5106 51548 5167 5213 5290 5291 5293 5294 5313 5315 5320 5321 5329 5476 5563 5621 5728 5730 5742 5743 57818 5973 60481 6296 6319 6342 6382 6383 6385 6401 6476 64834 6484 6514 6515 6517 6523 6646 6652 6783 7086 7108 7357 7412 80201 80339 8050 8398 847 8527 8560 8879 8972 9365 945 9514 960 9945	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	ACAA1 ACE ACHE AKR1B1 ALDH2 ALOX5 ANXA5 ARSA ARSB CD14 CDH13 CHI3L1 CYP11B2 CYP27A1 ENPP1 GLO1 HPGDS HPSE HSPG2 ICAM1 KL LCAT LGALS3 LIPC MBL2 NAMPT PLA2G1B PLA2G2A PLA2G6 PLA2G7 PNP PNPLA3 PTGDS PTGES PTGS2 SELE SELP TLR4 UCP2 VCAM1	1012 10135 10855 1116 1585 1593 1636 217 231 240 27306 2739 30 308 3339 3383 3931 3958 3990 410 411 4153 43 4860 5167 5319 5320 5730 5743 6401 6403 7099 7351 7412 7941 80339 8398 929 9365 9536	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ATP6V0A2 ATP6V1A B3GALNT2 B4GALT1 B4GAT1 COG8 CRPPA DAG1 DHCR7 EBP FKRP FKTN GPC3 LARGE1 PIGN PMM2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SLC35A2	10329 10585 10682 11041 148789 1605 1717 2218 23545 23556 2683 2719 29954 523 5373 55624 729920 7355 79147 84197 84342 84892 9215	Homo sapiens (human)	DisGeNET
DOID:0110164	Charcot-Marie-Tooth disease type 2D Aliases: CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080329	cold-induced sweating syndrome 1	CNTFR	1271	Homo sapiens (human)	DisGeNET
DOID:670	amphetamine abuse	ACHE ACSL6 CD55 CDH13 COMT GAD1 GAD2 HS3ST4 LARGE1 NPY1R	1012 1312 1604 23305 2571 2572 43 4886 9215 9951	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13250	diarrhea	ABO ACADM ACAT1 ACOT7 ACOT8 ACSF3 AGA AKR1D1 ALDOB ALG3 ALG8 APRT CD14 CD248 CD55 CEACAM5 CHGA CHPT1 CNTN3 COMT CPT1A CRYL1 CYP11B2 CYP1A2 CYP27A1 CYP2C19 CYP2C9 CYP3A4 CYP7A1 CYP7B1 DGAT1 DHDDS FBP1 FUT1 FUT2 GALT GLA GLB1 GNS GUSB H6PD HADH HGSNAT HMGCL HMGCS2 HSD3B7 IDS IL18R1 IL1RL1 KLB LCT LGALS3 LIPA LYZ MBL2 MLYCD MPI MTM1 NAGLU NCAM1 PIGT PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PRKAA2 PRNP PTGES3 PTGS2 RGN SDCBP2 SGSH SI SLC17A5 SLC26A2 SLC35A2 SLC5A1 SPTLC2 SRGN ST8SIA2 ST8SIA4 SULT1E1 TM7SF2 TPI1 TREH TYMP UGDH UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS	10005 10195 1048 10728 1113 11181 11332 1312 1374 138050 152831 1544 1557 1559 1576 1581 1585 1593 1604 175 1836 1890 197322 2203 229 23417 2523 2524 2592 26503 27111 2717 2720 2799 28 2990 3033 3155 3158 34 3423 353 38 3938 3958 3988 4069 4153 4351 4534 4669 4684 5067 51084 51604 5290 5291 5293 5294 5373 54575 54576 54577 54578 54600 54657 54658 5552 5563 5621 56994 57124 5743 6448 6476 6523 6718 6783 7108 7167 7355 7358 7364 7372 7903 79053 79947 80270 8128 8694 8809 9104 9173 929 9420 9517 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	CLEC5A NCAM1	23601 4684	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	A4GALT A4GNT ABO ACACA ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GALT1 B3GALT5 BAAT C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST3 CHST5 CNTN1 COMT CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD DPEP1 EFNA1 ENO1 ENO2 ENPP7 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 FUT8 G6PC1 G6PD GAL3ST1 GALNS GALNT12 GALNT3 GALNT6 GCNT1 GFRA2 GGT1 GLUL GPC1 GPC3 GPNMB GPX1 GPX2 GPX3 GUSB HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS1 LGALS3 LGALS4 LMAN1 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGAT5 MGLL MICA MMP17 MPG MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E NTHL1 OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 QPRT RECK RGN SCD SDC1 SDC2 SDHB SDHC SELL SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC26A2 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SORD SPHK1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT1A1 UGT1A6 UGT2B17 UGT8 VCAM1 VCAN VTCN1	100507436 1012 10135 10159 10232 10317 10327 10457 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1594 1604 1605 1636 1646 1718 1738 1800 1836 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 231 23236 23409 23475 2350 23563 23583 23600 239 240 242 247 2526 2530 2538 2539 2588 2591 2650 2675 2678 2719 27306 27349 2752 276 277 278 28 2817 283871 284348 2876 2877 2878 2923 2990 3036 3037 3038 308 31 310 3283 3290 3291 3292 3339 3383 339221 3417 3418 3482 353 38 3939 3945 3956 3958 3960 3998 4023 4048 4069 410 412 4199 4249 4326 4350 4360 4507 4595 4669 4680 4684 4758 4907 4913 4968 4973 4978 5095 5096 51146 51196 51477 51478 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 54578 54658 55600 5563 55959 5621 56913 56994 570 57016 57104 5716 57214 5728 5740 5742 5743 60495 6319 6382 6383 6390 6391 6402 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 6652 7086 7167 729238 7367 7368 7412 79679 79695 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8877 8930 8972 9104 9126 9197 9365 9420 9469 9514 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1 TNF	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 7124 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:439	neuromuscular junction disease	ACHE GAD2 GFPT1 IDH3A	2572 2673 3419 43	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	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)	DisGeNET
DOID:0070138	autosomal recessive cutis laxa type IIIB Aliases: ARCL3B De Barsy syndrome B	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)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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