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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 **2101 - 2125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:1138	spinal meningioma Aliases: Spinal Cord meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:4594	microcystic meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:6548	angiomatous meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:7213	transitional meningioma Aliases: transitional (mixed) meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:4591	lymphoplasmacyte-rich meningioma Aliases: Lymphoplasmocyte-rich meningioma	ALDH1A3 ALOX5 CD44 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 FASN GPX1 HPGDS HPRT1 IL18R1 LARGE1 MUTYH OGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SOAT1 TNKS	10724 151056 1543 1545 1588 1718 2194 220 240 27306 2876 3251 4051 4595 5290 5291 5293 5294 5329 5728 5730 5742 5743 6646 8658 8809 9215 960	Homo sapiens (human)
DOID:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	ALDH1A3 COMT DHCR7 GAS1 PTDSS1 SMC3	1312 1717 220 2619 9126 9791	Homo sapiens (human)
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	ALDH1A3 GLB1 GPC5 LCT MRC1 MUTYH PLA2G2A PTGS2	220 2262 2720 3938 4360 4595 5320 5743	Homo sapiens (human)
DOID:0060842	isolated microphthalmia 3 Aliases: MCOP3	ALDH1A3	220	Homo sapiens (human)
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	ALDH1A3	220	Homo sapiens (human)
DOID:0060840	isolated microphthalmia 1 Aliases: MCOP1	ALDH1A3	220	Homo sapiens (human)
DOID:0060839	isolated microphthalmia 2 Aliases: MCOP2	ALDH1A3	220	Homo sapiens (human)
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	ALDH1A3	220	Homo sapiens (human)
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	ALDH1A3	220	Homo sapiens (human)
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH1B1 ALDH5A1 GPLD1	219 2822 7915	Homo sapiens (human)
DOID:10141	obsolete asthenopia	ALDH2 ALDH3A2 CA4 CACNA2D4 CHST6 CTNS ELOVL1 HADHA HGSNAT HK1 IDH3A IDH3B PCYT1A PIKFYVE PLCD1 PNPLA6 POMGNT1 SPHK2	10908 138050 1497 200576 217 224 3030 3098 3419 3420 4166 5130 5333 55624 56848 64834 762 93589	Homo sapiens (human)
DOID:0111095	Fanconi anemia complementation group A Aliases: FANCA	ALDH2 ANXA7 CAT CD33 CD44 CD48 CYP2B6 ELOVL6 FUT1 HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR VCAM1	142 1555 217 2523 27306 310 3251 3383 4023 4199 4360 4684 5209 5563 57103 5728 6646 7412 79071 79661 847 945 960 962	Homo sapiens (human)
DOID:12995	conduct disorder	ALDH2 ARSD BST2 COMT DGKK EFNA5 EXT1 G6PD GLDC	1312 139189 1946 2131 217 2539 2731 414 684	Homo sapiens (human)
DOID:12449	aplastic anemia	ALDH2 ATP6AP2 CD48 CD55 CYP1A1 CYP2B6 CYP2E1 DGKZ ECI2 FCGR3B GPI HACD1 HPGDS ICAM1 IMPA1 LGALS9 NCAM1 PAFAH1B1 PIGA PTGDS SMUG1 TNF	10159 10455 1543 1555 1571 1604 217 2215 23583 27306 2821 3383 3612 3965 4684 5048 5277 5730 7124 8525 9200 962	Homo sapiens (human)
DOID:0060467	humeroradial synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 PTDSS1 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469 9791	Homo sapiens (human)
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)
DOID:9827	radioulnar synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:7843	female breast carcinoma Aliases: Mammary carcinoma of female breast	ALDH2 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 MUTYH OGG1 PIK3CA PTEN	1312 1543 1545 1586 1588 217 4595 4968 5290 5728	Homo sapiens (human)

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