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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 **1126 - 1150** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	CHKB EHHADH GAA GBE1 HADHA OTOA PLCE1 PTGS1 PTGS2 SIRT4	1120 146183 1962 23409 2548 2632 3030 51196 5742 5743	Homo sapiens (human)
DOID:3756	protein C deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	ABO ACACA ACADL ACOT7 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKT1 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ANXA5 APRT BAAT BST2 C1GALT1 CACNA2D3 CALR CD14 CD44 CDH13 CEACAM5 CEACAM7 CHI3L1 CHKA CHPT1 CHST15 CNTN1 COMT CPT1A CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCTD DGKA DHDDS DHDH EFNA1 FASN FUT4 G6PD GALNT14 GALNT7 GAPDH GBE1 GCNT2 GLO1 GOLPH3 GPC1 GPD2 GPX3 HAS3 HK2 HMGCS2 HPGDS HPSE ICAM1 IDH1 IDH2 KAT2B KLRK1 L1CAM LDHA LDHB LGALS9 LY6K LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MICA MRC1 MTAP MUTYH NEIL1 NT5E OGG1 OPCML PARG PARP1 PARP4 PDHA1 PFKFB3 PGD PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G2A PLA2G4A PLCD1 PLCE1 PRSS8 PTEN PTGES2 PTGES PTGS1 PTGS2 RECK RPN2 SDC2 SHMT1 SHMT2 SIGLEC7 SIRT4 SLC27A5 SMUG1 SOAT1 SPHK1 SQLE SRGN ST6GALNAC1 TIGAR TKTL1 TP53 TPI1 TUSC3 TYMP UGT1A1 UGT1A8 UGT2B17 UGT2B4 UMPS UNG UPP1 VTCN1	100507436 1012 10195 10327 1048 10747 10855 1087 10998 1116 1119 11332 124 125 126 127 1272 128 131 1312 1374 142 143 1543 1544 1545 1555 1557 1559 1571 1576 1577 1583 1591 1606 1635 1645 1646 1890 1942 207 217 2194 22914 23409 23583 239 240 246 2526 2539 2597 2632 2651 27036 27294 27306 27349 2739 28 2817 2820 284348 2878 3038 308 3099 31 3158 33 3383 3417 3418 353 3897 3939 3945 3965 4153 4360 4507 4595 4907 4968 4978 501 51196 51363 5160 51809 5209 5226 5287 5290 5291 5293 5294 5315 5320 5321 5333 54576 54658 54742 5552 55750 55799 55808 55902 5648 5652 56913 56994 570 57016 57103 5728 5742 5743 6185 6383 64083 6470 6472 6646 6713 684 7157 7167 7363 7367 7372 7374 7378 79623 79661 79679 7991 79947 80142 811 8277 8434 8505 8850 8877 8930 929 9536 960	Homo sapiens (human)
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	AGA AGK ANXA5 CALR CANX CD109 CD44 CHPT1 DHDDS EPHX2 FOLR1 HPSE IL18R1 ITPKC LGALS1 MSLN MUTYH OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SMUG1 ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 TM7SF2 TP53 TYMP UGT1A1	10232 10855 135228 175 1890 2053 2348 23583 2923 308 3956 4595 4968 5290 5291 5293 5294 54658 55750 56994 5728 6401 6480 6482 6484 6487 7108 7157 79947 80271 811 821 8809 960	Homo sapiens (human)
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)
DOID:374	nutrition disease Aliases: Nutritional disorder	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:3737	verrucous carcinoma Aliases: Warty carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma	PTEN	5728	Homo sapiens (human)
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ACE ACSL6 AKR1C4 ALOX5 CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYP1A1 CYP2B6 ENPP1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL NCAM1 PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 23305 23583 240 2539 27306 3383 3417 3418 3956 3958 4023 4684 5130 51477 5167 5277 5290 5291 5293 5294 5329 57126 5728 6382 6646 811 847 8809 9023 945 952	Homo sapiens (human)
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	A4GALT A4GNT ACOT1 ANXA7 CAT CD44 CEACAM5 CEACAM6 CFC1 CYP1A1 CYP2E1 ENO1 FASN GAD1 GALNT18 GALNT2 GALNTL5 GPX1 HPGDS LGALS3 MAPK14 MGAT5 MSLN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCE1 PLCG1 PRKAA2 PTEN PTGS2 SDHA SMUG1 SULT1E1 TP53 VTCN1	10232 1048 1432 1543 1571 168391 2023 2194 23583 2571 2590 27306 2876 310 374378 3958 4249 4507 4680 51146 51196 5290 5291 5293 5294 5320 5335 53947 5563 55997 5728 5743 6389 641371 6783 7157 79679 847 960	Homo sapiens (human)
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	ACE AGXT AKR1B10 ALOX12 ALOX12B B4GALT6 B4GALT7 BST2 CD14 CD1D CD38 CD44 CHI3L1 CHST8 CYP24A1 CYP2B6 DCN DGKG DHCR24 EBP ELOVL4 ENPP2 FADS2 FCGR3B FDFT1 FH GALNT3 GALNTL5 GBA1 HK2 HSD11B1 HYAL1 IL1R1 IL1RAP INPP5A KDSR KL LGALS3 LSS LYZ MINPP1 MMUT MSMO1 NANS NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS2 SCD SDC4 SDHD SIRT6 SOAT1 SPHK2 SPTLC1 STS SUCLG1 TNF VCAM1	10558 10682 1116 11285 1555 1591 1608 1634 1636 168391 1718 189 2215 2222 2271 23509 239 242 2531 2591 2629 3099 3290 3373 3554 3556 3632 3958 4047 4069 412 4594 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 54187 5538 5652 56848 57016 5728 5743 6307 6319 6385 6392 64377 6646 6785 684 7124 7412 8802 912 929 9331 9365 9415 952 9562 960	Homo sapiens (human)
DOID:3690	brachial plexus neuropathy Aliases: Brachial plexus disorder brachial plexopathy	SMUG1	23583	Homo sapiens (human)
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	IDH2 SMUG1	23583 3418	Homo sapiens (human)
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	FH PNP SDHB SORD	2271 4860 6390 6652	Homo sapiens (human)
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:3674	kidney rhabdoid cancer Aliases: renal Rhabdoid tumor rhabdoid tumor of the kidney	CD44 PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646 960	Homo sapiens (human)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	ABO ACE AGXT ALDH7A1 BAD CALR CD14 CHI3L1 CYP1A1 CYP1A2 CYP2C19 DLD ENPP1 GPX1 ICAM1 KLRB1 LIPC PCYT1A SIRT2 SLC2A10 SRD5A1 VCAM1 VCAN XYLT1 XYLT2	1116 1462 1543 1544 1557 1636 1738 189 22933 28 2876 3383 3820 3990 501 5130 5167 572 64131 64132 6715 7412 81031 811 929	Homo sapiens (human)
DOID:3665	diffuse cutaneous mastocytosis	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)
DOID:3664	mast cell neoplasm Aliases: Mast cell Proliferative disease mast cell tumor mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)

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