GlyCosmos Portal

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

Displaying entries **2976 - 3000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:3149	keratoacanthoma	B3GAT1 CAT CD44 CYP24A1 HK2 INPP5A MMUT MOGS MRC1 PIK3CA PLD2 PPT1 PTGS1 PTGS2 SDC1 SDHD	1591 27087 3099 3632 4360 4594 5290 5338 5538 5742 5743 6382 6392 7841 847 960	Homo sapiens (human)
DOID:0080147	lymphoblastic lymphoma	B3GAT1 CD14 CD1D CD22 CD33 CD38 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST9 CLEC12A COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2C8 CYP2E1 CYP3A5 EBP EFNA5 ENO2 FUT4 GML HMMR HPGDS HPRT1 HS3ST4 IDH1 IDH2 IDUA IL18R1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LPL MBL2 MOGS MTAP NCAM1 NT5E PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PNPLA3 PRKAA2 PTEN SACM1L SFTPD SMUG1 SPHK2 ST8SIA6 UGT1A1	1012 1048 10584 10682 1087 1464 1543 1544 1545 1558 1571 1577 160364 1946 2026 22908 22914 23583 2526 27087 27306 2765 3161 3251 338596 3417 3418 3425 3635 3956 3958 4023 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 54658 5563 56848 5728 6441 7841 80339 83539 8809 912 929 933 945 9487 952 960 9951	Homo sapiens (human)
DOID:6536	plasma cell neoplasm Aliases: Plasma cell dyscrasia Plasma cell tumour Plasmacytic tumor	B3GAT1 CD38 CEACAM6 HAS1 LPL MAG NCAM1 PIGA PRSS21 PSAP PTEN SDC1	10942 27087 3036 4023 4099 4680 4684 5277 5660 5728 6382 952	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)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	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:7465	chronic NK-cell lymphocytosis Aliases: NK-cell large granular Lymphocyte Lymphocytosis	B3GAT1 FCGR3B KLRD1 NCAM1	2215 27087 3824 4684	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: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:4617	periapical granuloma Aliases: Apical granuloma	B3GAT1 ICAM1 LGALS1 PTGS2 SIRT2	22933 27087 3383 3956 5743	Homo sapiens (human)
DOID:3223	complex regional pain syndrome Aliases: Complex regional pain syndromes	B3GAT1 IL1R1	27087 3554	Homo sapiens (human)
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)
DOID:7319	axonal neuropathy	B3GAT1 MTMR2 PIGB	27087 8898 9488	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: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: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: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:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	Homo sapiens (human)

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