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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 **2451 - 2475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ACAN CHST3 EXT1 EXT2 EXTL1 EXTL2 EXTL3 HPSE HSPG2 IDH1 IDH2 SDC2 SLC35B2 SULT1E1 UXS1	10855 176 2131 2132 2134 2135 2137 3339 3417 3418 347734 6383 6783 80146 9469	Homo sapiens (human)
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	ABO ACE AKR1B1 CD14 CLEC16A CYP1A1 ICAM1 IL18R1 IL1R1 IL1RL1 INPP5D ITPKB LMAN1 MANBA MICA PIGX SFTPD	100507436 1543 1636 231 23274 28 3383 3554 3635 3707 3998 4126 54965 6441 8809 9173 929	Homo sapiens (human)
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)
DOID:0070328	adult hepatocellular carcinoma Aliases: adult hepatoma adult primary hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 HPSE LDHA OGG1 PIK3CA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	10855 126 1555 23213 2539 2719 28 353 38 3939 4968 5168 5290 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)
DOID:4791	supratentorial primitive neuroectodermal tumor Aliases: Supratentorial PNET	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 ADIPOQ AGPAT2 AKR1A1 AKR1D1 AKT1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APEX1 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CS 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 GCLC GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B 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 PPARA PPARGC1A PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RBP4 REG1B 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 TLR4 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 10891 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1431 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 207 217 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 2729 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 328 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 5465 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5950 5968 5973 60481 60495 6382 6385 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7099 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9197 929 9365 9370 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	ACE ARSA ART4 CD14 CD74 CDS1 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTGIS PTGS2 SACM1L SMUG1 ST8SIA4 TLR2 TLR4 TM7SF2 VCAM1	1040 1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 5740 5743 7097 7099 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)
DOID:8738	leukoplakia of penis Aliases: Kraurosis of penis Penile Leukoplakia	INPP5E	56623	Homo sapiens (human)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSM3 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX12 ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 ENPP2 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SELP SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1591 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 239 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3481 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5168 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6296 6382 6401 6402 6403 64090 64116 6441 64581 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:3525	middle cerebral artery infarction	ACACA ACE AGXT ALDH2 ALOX5 BAD BCAN CAT CD14 CHAT CHI3L1 CYP19A1 CYP2C8 CYP2E1 CYP2J2 ENO1 EPHX2 G6PD GAD1 GAD2 GAPDH GHRL GLUL GSK3B HAS2 HJV HK2 HPRT1 ICAM1 KL LDHA LGALS3 LPIN1 LYPD5 MAG MGLL NAMPT NCAM1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLD1 PRKAA2 PTEN PTGS2 RGMA RGMB SFTPD SIRT2 SLC2A1 SLC2A3 SLC5A1 SMUG1 SPHK2 STS TM7SF2 TNF UMOD UPP1	10135 1103 1116 11343 142 148738 1558 1571 1573 1588 1636 189 2023 2053 217 22933 23175 23583 240 2539 2571 2572 2597 2752 284348 285704 2932 3037 3099 31 3251 3383 3939 3958 4099 412 4684 4968 51738 5290 5291 5293 5294 5321 5337 5563 56848 56963 572 5728 5743 63827 6441 6513 6515 6523 7108 7124 7369 7378 847 929 9365	Homo sapiens (human)
DOID:2766	ethmoid sinus adenocarcinoma Aliases: adenocarcinoma of the ethmoid sinus	PIK3CA	5290	Homo sapiens (human)
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	ABO ACACA ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEACAM6 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GCNT2 GGT1 HK1 HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1RL1 LIPA LSS MAN2A1 MTAP MUTYH NAAA NAMPT NCAM1 NT5E OGG1 PARP1 PARP9 PFKFB2 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PNP PRKAA2 PRPS1 PTEN PTGES3 PTGS2 SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 SRD5A2 UGT1A6 UMOD UNG	10135 1056 10728 10998 1116 1271 142 1543 1544 1545 1555 1558 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2651 2678 27087 27163 27306 28 308 3098 31 3251 3291 3383 3417 3418 3482 353 3988 3992 4047 4051 4124 4507 4595 4680 4684 4860 4907 4968 5208 5290 5291 5293 5294 5305 54578 5563 55902 5631 56848 5728 5743 6401 6441 6470 6646 6716 7369 7374 811 83666 847 8644 8809 9173 929 933 945 952 960 962 971	Homo sapiens (human)
DOID:0050083	Keshan disease	ACE CYP1A1 CYP2C19 GAPDH GPX1 ICAM1 IDH2 PARP1	142 1543 1557 1636 2597 2876 3383 3418	Homo sapiens (human)
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	ADH1B ALDH2 IGF2	125 217 3481	Homo sapiens (human)
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)

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