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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 **2226 - 2250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	CD44 EXT1 FCGR3B TNF VCAM1	2131 2215 7124 7412 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	CTSA GALNS GLB1 IDUA NEU1 OGA	10724 2588 2720 3425 4758 5476	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11482	hemopericardium Aliases: Haemopericardium	ACADVL ACE ALG9 CAT GBA1 PMM2 PTGS2 SMUG1	1636 23583 2629 37 5373 5743 79796 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:9775	diastolic heart failure	ACE CYP27B1 LEPR	1594 1636 3953	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7426	cutaneous anthrax	CAT	847	Homo sapiens (human)	DisGeNET
DOID:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	Homo sapiens (human)	DisGeNET
DOID:9837	hypertropia	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)	DisGeNET
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	ARSA GLB1 GM2A HEXA HEXB HEXD OGA UGCG	10724 2720 2760 284004 3073 3074 410 7357	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	ARSD CACNA2D1	414 781	Homo sapiens (human)	DisGeNET
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)	DisGeNET
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)	Alliance of Genome Resources
DOID:4415	fibrous histiocytoma Aliases: Fibroxanthoma benign fibrous histiocytoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	ACE AKR1B1 ATP6AP2 CANX CAT GPX1 HPSE ICAM1 LGALS3 PTEN RBP4 RENBP SELL SMPD1 TNF	10159 10855 1636 231 2876 3383 3958 5728 5950 5973 6402 6609 7124 821 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1492	obsolete eye and adnexa disease	ACE AKR1A1 PLA2G7 SORD	10327 1636 6652 7941	Homo sapiens (human)	DisGeNET
DOID:5485	synovial sarcoma	ACE CD38 ENO2 GLB1 GLO1 HPSE NANS PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SIRT2 SLC3A1 SMUG1 VCAM1 VTCN1	10855 1636 2026 22933 23583 2720 2739 5091 5290 5291 5293 5294 54187 5728 5743 6401 6519 7412 79679 952	Homo sapiens (human)	DisGeNET
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 CPT1A CYP27A1 CYP7A1 LEPR PCK1 SCD SPHK2 TNF	1374 1581 1593 31 3953 5105 55331 56848 6319 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	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)	DisGeNET
DOID:0110793	hereditary spastic paraplegia 41 Aliases: SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41	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)	DisGeNET
DOID:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	CYP11A1 FREM1 NEIL1 PAFAH1B1 PRNP	1583 158326 5048 5621 79661	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABO ACACA ACE AGPAT2 AKR1C3 AKT1 ALOX5 ALPI ALPP ANXA5 B3GAT1 B4GALT1 CALR CAT CD14 CD177 CD33 CD38 CD44 CD55 CDH13 CEACAM5 CLEC12A CYP1A1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 EBP ETNK1 FCGR3B FOLR2 FUT1 FUT4 FUT8 G6PD GPI GPX1 GPX3 GUSB HK2 HMGCLL1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IL18R1 IL1RAP IMPA1 INPP5D INPPL1 KLRC1 LGALS3 LGALS9 LTA4H LTC4S MICA MRC1 NCAM1 PARP1 PCYT1A PFKFB3 PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SELL SFTPA1 SOAT1 ST3GAL1 ST8SIA1 ST8SIA4 TKT TKTL1 TPI1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG	100507436 1012 1048 10555 10682 10855 142 1543 1555 1558 1576 1577 160364 1604 1636 207 2215 2350 240 248 250 2523 2526 2530 2539 2683 27087 27306 28 2821 283871 2876 2878 2990 308 3099 31 3161 3251 3339 3383 3417 3418 3556 3612 3635 3636 3821 3958 3965 4048 4056 4360 4684 5130 5209 5290 5291 5293 5294 5315 5333 54511 54575 54576 54577 54578 54657 54658 55300 55500 5563 57126 5728 5742 5743 6402 6482 6489 653509 6646 7086 7167 7374 7903 811 8277 847 8644 8809 929 945 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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