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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 **2001 - 2025** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0080073	spina bifida occulta	B3GLCT COLEC10 COLEC11 LFNG MASP1	10584 145173 3955 5648 78989	Homo sapiens (human)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	Homo sapiens (human)
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)
DOID:10375	strabismic amblyopia Aliases: suppression amblyopia	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN XYLT2	1298 23556 2581 26229 29925 4952 64132 8473 9469	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:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3 B4GALT7 CHST3	11285 26229 9469	Homo sapiens (human)
DOID:6404	metanephric adenoma	B3GAT1	27087	Homo sapiens (human)
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)
DOID:7319	axonal neuropathy	B3GAT1 MTMR2 PIGB	27087 8898 9488	Homo sapiens (human)
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)
DOID:3223	complex regional pain syndrome Aliases: Complex regional pain syndromes	B3GAT1 IL1R1	27087 3554	Homo sapiens (human)
DOID:4617	periapical granuloma Aliases: Apical granuloma	B3GAT1 ICAM1 LGALS1 PTGS2 SIRT2	22933 27087 3383 3956 5743	Homo sapiens (human)
DOID:2047	hepatitis D Aliases: delta hepatitis	B3GAT1 GAPDH SLC35A2 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2597 27087 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 6646 7355	Homo sapiens (human)
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	B3GAT1 FH G6PD TNF	2271 2539 27087 7124	Homo sapiens (human)
DOID:7465	chronic NK-cell lymphocytosis Aliases: NK-cell large granular Lymphocyte Lymphocytosis	B3GAT1 FCGR3B KLRD1 NCAM1	2215 27087 3824 4684	Homo sapiens (human)
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	B3GAT1 FCGR3B IL18R1 KLRB1 NCAM1 SOAT1 TP53 UGCG	2215 27087 3820 4684 6646 7157 7357 8809	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)

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