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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 **76 - 100** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)
DOID:61	mitral valve disease Aliases: Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence	ACACA ACE	1636 31	Homo sapiens (human)
DOID:47	prostate disease	CAT CYP17A1 CYP19A1 FMOD GLCE GPX1 PTEN SRD5A2 TM7SF2	1586 1588 2331 26035 2876 5728 6716 7108 847	Homo sapiens (human)
DOID:0110259	cataract 43 Aliases: CTRCT43	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:2355	anemia Aliases: 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 TNF UGCG UGT1A1 UMPS VCAM1	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 7124 729920 7357 7372 7412 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)
DOID:5304	ovarian clear cell adenocarcinoma	ANXA4 NEU3 PIK3CA	10825 307 5290	Homo sapiens (human)
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)
DOID:5567	ovarian germ cell teratoma Aliases: germ cell teratoma of Ovary	PTEN	5728	Homo sapiens (human)
DOID:12205	dengue disease Aliases: Dengue Fever breakbone fever classic dengue	ABO ACHE AGPAT1 AMACR ANXA5 APRT BST2 CAT CD14 CD209 CD33 CD38 CERS1 CHST10 CLEC5A CSPG5 DDOST FASN FCGR3B G6PD GAPDH GOLPH3 HPSE2 HPSE HSD17B6 ICAM1 IL1RL1 KLRC1 LGALS9 MBL2 MGAM MICA MOGS MRC1 NAAA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRKAA2 PRNP PTGS2 SCD SELE SI SIRT6 SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TM7SF2 TPI1 VCAM1	100507436 10554 10675 10715 10855 1650 201595 2194 2215 23583 23600 23601 2539 2597 26503 27163 28 308 30835 3383 353 3821 3965 4153 43 4360 51196 51548 5290 5291 5293 5294 5563 5621 56848 5743 60495 6319 6401 64083 6476 6646 684 7108 7167 7412 7841 847 8630 8877 8972 9173 929 945 9486 952	Homo sapiens (human)
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 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 PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)
DOID:4386	myofibroma Aliases: Lipoleiomyoma	ACE CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	AKR1C3 CYP3A5 TP53	1577 7157 8644	Homo sapiens (human)
DOID:4889	lymph node tuberculosis Aliases: Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula	SMUG1	23583	Homo sapiens (human)
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	ACACA ACADM ACE APRT CD14 CD248 CD38 CPT1A CPT2 CYP11B2 CYP1A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 DLAT ELOVL6 FADS2 FCGR3B FUT1 KLRB1 MBL2 MICA PCCA PCCB PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PTGS1 PTGS2 SELL SFTPA2 SIRT6 SLC2A4 TNF UGCG XYLT2	100507436 1374 1376 1543 1555 1557 1585 1589 1591 1593 1594 1636 1737 2215 2523 31 34 353 3820 4153 5095 5096 51548 5209 5236 5290 5291 5293 5294 5315 5321 57124 5742 5743 6402 64132 6517 7124 729238 7357 79071 929 9415 952	Homo sapiens (human)
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 ADIPOQ ADRB3 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH6A1 ALDOA ALOX12 ALOX15 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALNT1 B4GALNT2 B4GALT1 CACNA2D2 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CD93 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CHST9 CLEC10A CLEC1B CLEC6A CLEC7A CLEC9A CNTN3 COG2 COG5 COG6 COMT CPT1A CPT2 CS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLAT DLD DPEP2 DPEP3 EBP EFNA5 ELOVL2 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN1 FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT8 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GAPDH GCK GGT1 GK GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB GYG1 H6PD HADHA HAS2 HAS3 HJV HK1 HK2 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LCT LDHA LEPR LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LTC4S LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PAFAH2 PARP12 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PDHA1 PEMT PFKFB3 PFKL PFKM PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD1 PLCD3 PLCG1 PLCG2 PLPP3 PNP PNPLA2 PNPLA3 PPARA PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB PYGM RBP4 RENBP RGN RPN1 SACM1L SCD SDC1 SDC4 SELE SELENOI SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC1 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A12 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TLR4 TM7SF2 TNF TP53 TPI1 TYMP UGCG UGT1A1 UGT1A6 UMOD UMPS VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10462 10466 10555 10559 1056 10682 10715 10724 10855 10965 1113 1116 1118 113026 11332 11343 120227 124 124872 125 126 128 1312 1374 1376 139189 142 1431 144423 1462 148738 151056 154091 1543 1544 1545 155 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1737 1738 176 189 1890 1946 2053 2137 217 2180 219 2215 2219 2220 2224 226 22796 22908 22914 22918 22933 231 23171 2331 23409 2350 23545 23583 23659 239 240 246 247 249 2525 2530 2539 2571 2583 2590 2591 2597 26279 2645 26503 2678 2683 27087 2710 27163 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 2992 3030 3037 3038 308 3098 3099 31 3158 32 3290 3339 3383 338328 339221 340075 3418 3482 35 353 3554 3556 3635 3705 38 39 3931 3938 3939 3953 3957 3958 3988 3990 3992 3998 4023 4047 4048 4056 4069 4099 410 411 412 414 4153 43 432 4326 4329 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5051 5067 5091 51266 5130 51477 51548 5160 5167 51763 51809 5209 5211 5213 5236 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5333 5335 5336 54187 54578 5465 54658 54898 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 57511 5834 5837 5950 5973 60495 6184 6319 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 64761 6480 6484 6489 6515 6517 6523 653509 6609 6610 6614 6646 6783 6916 7099 7108 7124 7157 7167 729238 7357 7369 7372 7412 7903 79071 7941 79660 80339 811 81849 821 83539 8398 8399 8435 847 8482 8529 85465 8547 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 9104 912 9126 9173 9197 9254 929 9365 9370 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)

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