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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3151 - 3175** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	ABAT ACAT1 ACHE ALG1 ALPL B3GALNT2 CAT CHAT CNTN2 CYP11A1 DAG1 ENO2 GAD1 GAD2 IDH2 IMPA1 LMAN2L MAN1B1 MBOAT7 ME1 NDST1 NGLY1 PGAP1 PIGC PIGM PLCB1 PNPLA6 PTEN PTGS2 SLC33A1 SMUG1 ST3GAL3 STT3A TECR TMTC3 TUSC3	10908 1103 11253 148789 1583 160418 1605 18 2026 23236 23583 249 2571 2572 3340 3418 3612 3703 38 4199 43 5279 55768 56052 5728 5743 6487 6900 79143 7991 80055 81562 847 9197 93183 9524	Homo sapiens (human)
DOID:0060611	abdominal obesity-metabolic syndrome	LEP NEIL1 PPARGC1A	10891 3952 79661	Homo sapiens (human)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABO ACE ALPP ATRNL1 B3GAT1 CD14 CD1D CD74 CLEC16A CNTN5 COG6 CYP21A2 CYP3A4 CYP7A1 DAG1 DBT DGCR2 DGKQ DLAT DLST FH GGT1 GLB1 HK1 HPGDS ICAM1 IL18R1 ITLN1 L1CAM LEP LEPR LGALS3 MANBA MBL2 OGDH PDHX PIK3CA PLCB1 PNPLA3 POGLUT1 PPARGC1A PTGS2 SOAT1 TNF UGT2B4 VCAM1 VTCN1	10891 1576 1581 1589 1605 1609 1629 1636 1737 1743 2271 23236 23274 250 26033 2678 27087 2720 27306 28 3098 3383 3897 3952 3953 3958 4126 4153 4967 5290 53942 55600 56983 5743 57511 6646 7124 7363 7412 79679 80339 8050 8809 912 929 972 9993	Homo sapiens (human)
DOID:0050855	renal fibrosis	ACE CYP2J2 LEPR PPARGC1A TLR2 TLR4	10891 1573 1636 3953 7097 7099	Homo sapiens (human)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	CD74 FDPS IDH1 IDH2 IL1R1 LYZ MACROD2 NANS PIK3CA PIK3CB PIK3CD PIK3CG PPARGC1A PTEN PTGS2	10891 140733 2224 3417 3418 3554 4069 5290 5291 5293 5294 54187 5728 5743 972	Homo sapiens (human)
DOID:11446	sciatic neuropathy	CAT CERS2 CYP11A1 CYP17A1 GFRA1 GPX3 GSK3B HSD3B1 ICAM1 KCNJ11 MAG PCNA PPARGC1A REG3G RGMA TLR4 TNF	10891 130120 1583 1586 2674 2878 2932 29956 3283 3383 3767 4099 5111 56963 7099 7124 847	Homo sapiens (human)
DOID:10376	amblyopia Aliases: lazy eye	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN PPARGC1A XYLT2	10891 1298 23556 2581 26229 29925 4952 64132 8473 9469	Homo sapiens (human)
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	ABAT CYP46A1 DGKD EXT1	10858 18 2131 8527	Homo sapiens (human)
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ABO ACE ACOT7 ADIPOQ AKR1B1 ANXA5 ARSD B4GALT3 CACNA2D1 CAT CD38 CNTN4 CYP1A1 CYP1B1 CYP27A1 CYP2C19 CYP46A1 DCN DGKD ELOVL5 GALC GAS1 GLB1 GLUL GMDS HAS2 HK2 HPGDS IDH3A MBL2 MUTYH NTM OGG1 PARP1 PLA2G4A PLB1 PLCE1 PMM2 PRNP PTEN PTGS1 PTGS2 SOAT1 SULT1E1 TLR4 TMTC2 TNF TP53	10858 11332 142 151056 152330 1543 1545 1557 1593 160335 1634 1636 231 2581 2619 2720 27306 2752 2762 28 3037 308 3099 3419 414 4153 4595 4968 50863 51196 5321 5373 5621 5728 5742 5743 60481 6646 6783 7099 7124 7157 781 847 8527 8703 9370 952	Homo sapiens (human)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	CD44 CD72 CLEC1B HPSE MBD4 MRC1 NCAM1 PTEN PTGS1 SELP	10855 4360 4684 51266 5728 5742 6403 8930 960 971	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ABO BAAT HPSE	10855 28 570	Homo sapiens (human)
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	ACHE HPSE KDSR PLA2G4A	10855 2531 43 5321	Homo sapiens (human)
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	AMACR CAT CYP4F3 FIG4 GPX2 HPSE LPIN1 MTMR2 PLCB4 PLCE1 PTGS2	10855 23175 23600 2877 4051 51196 5332 5743 847 8898 9896	Homo sapiens (human)
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL CD33 CD44 HPSE HSPG2 IGF2R LDHB MMP25 MMUT MRC1 PDHX PIK3CA PKM PLD2 PTEN PTGES PTGS2 SDHB STS	10855 207 240 249 3339 3482 3945 412 4360 4594 5290 5315 5338 5728 5743 6390 64386 8050 945 9536 960	Homo sapiens (human)
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	CD22 FCN2 HPSE TYMP XYLT2	10855 1890 2220 64132 933	Homo sapiens (human)

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