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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 **1826 - 1850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ ALDH5A1 ALOX15 AMACR ARSD CAT CHAT ENO2 EPM2A FBP1 FBP2 FOLR1 FOLR2 HAGH HPRT1 L1CAM NTNG1 PAFAH1B1 SIRT2 ST3GAL5	1103 2026 2203 22854 22933 2348 2350 23600 246 3029 3251 3897 414 5048 7915 7957 847 8789 8869 9370	Homo sapiens (human)
DOID:1580	diffuse scleroderma Aliases: diffuse systemic sclerosis systemic sclerosis, diffuse	ADIPOQ CAT HEXA PTEN TLR2	3073 5728 7097 847 9370	Homo sapiens (human)
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADIPOQ CBR4 CD14 CFC1 CYP7A1 ENPP2 FCGR3B GGT1 GPC1 ICAM1 MBD4 NCAM1 PCK1 PTEN SELE	1581 2215 2678 2817 3383 4684 5105 5168 55997 5728 6401 84869 8930 929 9370	Homo sapiens (human)
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	ADIPOQ FCN2 ICAM1 NTM RGMA STS TNF	2220 3383 412 50863 56963 7124 9370	Homo sapiens (human)
DOID:0060261	congenital ptosis	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	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:0050801	androgenic alopecia Aliases: alopecia androgenetica, male pattern baldness androgenetic alopecia	AGA AGXT AKR1C4 CYP17A1 CYP27B1 HPGDS PARP1 PRNP PTGDS SRD5A1 SRD5A2 STS VCAN	1109 142 1462 1586 1594 175 189 27306 412 5621 5730 6715 6716	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	AGA ALDOA ARSA BPGM GGT1 GPI HK1 PKLR PNPLA2 PSAP TPI1	175 226 2678 2821 3098 410 5313 5660 57104 669 7167	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	AGA ALOX15 CAT MBL2 SFTPA1 SFTPA2	175 246 4153 653509 729238 847	Homo sapiens (human)
DOID:0060357	chylomicron retention disease Aliases: Anderson disease CMRD	AGA AMT ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 DGAT1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GPIHBP1 GUSB ICAM1 IDS IDUA LCAT LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PNPLA2 PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 275 2990 3383 338328 3423 3425 3931 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 57104 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8694 8972 9415	Homo sapiens (human)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA ARSA ARSB ARSG ARSI ARSK ASAH1 CD1D CHIT1 CTNS CTSA FIG4 FUCA1 FUT1 GAA GALC GALNS GBA1 GLA GLB1 GNPTAB GNPTG GNS GPNMB GUSB HEXA HEXB HSD17B1 HYAL1 IDS IDUA IGF2R LIPA MAN2B1 MANBA MGAM NAGLU NEU1 OGA PIP4K2A PPT1 PRKAA2 PSAP SGSH SI SLC17A5 SMPD1 SUMF1	10457 10724 1118 1497 153642 175 22901 2517 2523 2548 2581 2588 2629 26503 2717 2720 2799 285362 2990 3073 3074 3292 3373 340075 3423 3425 3482 3988 410 411 4125 4126 427 4669 4758 5305 5476 5538 5563 5660 6448 6476 6609 79158 84572 8972 912 9896	Homo sapiens (human)
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	AGA ARSA ARSB ASAH1 CAT CEL CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LIPA LIPF LPL LSS MANBA MGAM NAGA NAGPA NCAM1 NT5E OGA PSAP PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 SOAT2 UGCG UGT1A1 UMOD VCAM1	1056 10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 3988 4023 4047 410 411 4126 427 4668 4684 4907 51172 54658 5476 5660 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 8435 84572 847 8513 8972 9415	Homo sapiens (human)
DOID:0060320	inguinal hernia	AGA ARSA ARSB ATP6V0A2 ATP6V1A B3GLCT COMT CYP19A1 DSE ELOVL4 GALNS GLB1 GNE GNPTAB GPC3 GUSB IDS IDUA INPP5E LFNG MAN2B1 NEU1 OCRL PAFAH1B1 PIGQ PIGY PLD1 PTDSS1 SLC26A2 SLC2A10 SMC3 SRD5A3 TGDS	10020 1312 145173 1588 175 1836 23483 23545 2588 2719 2720 2990 29940 3423 3425 3955 410 411 4125 4758 4952 5048 523 5337 56623 6785 79158 79644 81031 84992 9091 9126 9791	Homo sapiens (human)
DOID:0060643	primary sclerosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS TNF	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 7124 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:14268	sclerosing cholangitis Aliases: fibrosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:13186	megaesophagus	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)

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