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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 **3851 - 3875** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3186	adult oligodendroglioma Aliases: adult brain oligodendroglioma grade II adult Oligodendroglial tumor	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	ACE ALPL B4GALNT2 CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 124872 1605 1636 2218 249 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:13789	staphyloma posticum	HADHA	3030	Homo sapiens (human)
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:2382	kernicterus Aliases: bilirubin encephalopathy	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	Homo sapiens (human)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ACAN AMACR ANXA5 APRT CD44 CDS1 CHI3L1 CSPG4 DCN EFNA5 EXT1 EXT2 GLB1 GPC3 HS3ST1 HSPG2 ICAM1 IDH1 IDH2 LDHA MTAP NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTEN PTGS2 SDC2 SFTPC SLC2A10 SMUG1 SPHK2 TM7SF2 TUSC3 VCAM1 VCAN	10135 1040 1116 142 1462 1464 1634 176 1946 2131 2132 23583 23600 2719 2720 308 3339 3383 3417 3418 353 3939 4507 5290 5291 5293 5294 5563 5621 56848 5728 5743 6383 6440 7108 7412 7991 81031 960 9957	Homo sapiens (human)
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:9622	kidney hypertrophy	ACE ALOX12 CAT DCN KL SIRT6	1634 1636 239 51548 847 9365	Homo sapiens (human)
DOID:4492	avian influenza Aliases: avian flu bird flu	CD14 PTGS2	5743 929	Homo sapiens (human)
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)
DOID:0060678	catecholaminergic polymorphic ventricular tachycardia 4 Aliases: CVPT4	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	CERS3 TNF	204219 7124	Homo sapiens (human)
DOID:0110767	hereditary spastic paraplegia 14 Aliases: SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)
DOID:4903	granular cell carcinoma Aliases: granular cell adenocarcinoma	A4GALT A4GNT ABO ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ATP6AP2 B3GALT1 B3GALT5 C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST5 CNTN1 COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 G6PD GAL3ST1 GALNS GALNT3 GALNT6 GCNT1 GGT1 GPC1 GPC3 GPX1 GPX3 HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD17B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGLL MICA MMP17 MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E 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 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDHB SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT2B17 UGT8 VCAM1 VTCN1	100507436 1012 10135 10159 10232 10317 10327 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1543 1544 1545 1571 1585 1586 1588 1591 1594 1604 1605 1636 1646 1718 1738 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2539 2588 2591 2650 2678 2719 27306 27349 276 277 278 28 2817 283871 284348 2876 2878 2923 3036 3037 3038 308 310 3290 3292 3383 3417 3418 3482 353 38 3939 3945 3958 3960 4023 4048 4069 412 4199 4326 4360 4507 4595 4669 4680 4684 4758 4907 4968 4973 4978 5095 5096 51146 51196 51477 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 55600 5563 55959 5621 56913 56994 57016 57104 57214 5728 5740 5742 5743 60495 6319 6382 6390 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 7086 7167 729238 7367 7368 7412 79679 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8930 8972 9104 9126 9197 9365 9420 9514 9536 960	Homo sapiens (human)
DOID:0110233	cataract 27 Aliases: CTRCT27 cataract 27 nuclear progressive	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:3076	adult astrocytic tumor Aliases: adult astrocytic tumour adult astrocytoma	CHST15 ENPP1 IDH1 IDH2 LGALS3	3417 3418 3958 51363 5167	Homo sapiens (human)
DOID:6128	gliomatosis cerebri Aliases: Astrocytosis cerebri	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)

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