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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 **2751 - 2775** of **7942** 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:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ACAT1 CALR CD177 HMGCL NAAA PMM2	27163 3155 38 5373 57126 811	Homo sapiens (human)
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ACE ALOX12 ALOX5 CALR CAT CD177 CD33 CD44 CEL CHI3L1 CHIT1 CYP3A4 FUT1 FUT4 G6PC1 G6PD GPX1 GUSB HPRT1 HPSE IDH1 IDH2 IDS IL18R1 INPP5D LGALS1 LGALS3 MUTYH NAAA OGG1 PAFAH1B1 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG POFUT1 SIGLEC7 SOAT1	1056 10855 1116 1118 142 1576 1636 23509 239 240 2523 2526 2538 2539 27036 27163 2876 2990 3251 3417 3418 3423 3635 3956 3958 4595 4968 5048 5130 5209 5277 5290 5291 5293 5294 57126 6646 811 847 8809 945 960	Homo sapiens (human)
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	ABAT ABO ACE ACHE ACSL5 ACSL6 ACSM3 AKR1C4 ALOX5 ALPI ALPP AMACR ANXA5 ARSA ARSH BAAT CALR CD14 CD177 CD22 CD33 CD38 CD48 CD55 CDH13 CFC1 CHI3L1 CHIT1 CHST9 CLEC12A COLEC10 CPT1A CPT2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 EBP FCGR3B FUT1 FUT4 G6PC3 G6PD GGT1 GPI GPX3 GYS1 HAS2 HJV HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IL18R1 INPP5D LDHA LDHC LGALS3 LGALS9 NAAA NAGLU NANS NCAM1 OGG1 PAFAH1B1 PARP1 PDIA3 PGK1 PGP PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLA2R1 PLCB1 PLCB4 PLCE1 PLCG1 POGLUT1 PTEN PTGS1 QTRT1 SELE SELP SFTPA1 SLC17A5 SMPD3 SOAT1 STS TNFRSF10C VCAM1	1012 10584 10682 10855 1109 1116 1118 1374 1376 142 148738 1545 1555 1571 1577 160364 1604 1636 18 2215 22925 23236 23305 23556 23600 240 248 250 2523 2526 2539 26503 2678 27163 27306 28 2821 283871 2878 2923 2997 3037 308 3383 3417 3418 347527 3635 3939 3948 3958 3965 410 412 43 4669 4684 4968 5048 51196 51703 5230 5277 5290 5291 5293 5294 5305 5321 5332 5335 54187 55512 55997 56983 570 57126 5728 5742 60495 6296 6401 6403 653509 6646 7412 811 81890 83539 8794 8809 92579 929 933 945 952 962	Homo sapiens (human)
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	ACHE HPSE KDSR PLA2G4A	10855 2531 43 5321	Homo sapiens (human)
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2214	obsolete inherited blood coagulation disease	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 CYP7B1 DDOST ENO1 ENPP2 GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP	10855 11332 151056 1650 2023 229 23600 25839 27163 3958 3998 410 4351 5091 51266 5168 5290 5321 570 5742 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:219	colon cancer	hs3st2	100492586	Xenopus tropicalis (tropical clawed frog)
DOID:219	colon cancer	GPX1 GPX2	852546 853842	Saccharomyces cerevisiae S288C
DOID:219	colon cancer	Akt1 Bad Gsk3b Hs3st2 Mapk14 Prkaa1	105787 11651 12015 195646 26416 56637	Mus musculus (house mouse)
DOID:219	colon cancer	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BAD C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GSK3B GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MAPK14 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNFRSF10C TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 1432 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 207 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2932 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5562 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 572 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8794 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960 9956	Homo sapiens (human)
DOID:219	colon cancer	akt1.S hs3st2.L hs3st2.S	108701605 108703165 399170	Xenopus laevis (African clawed frog)
DOID:219	colon cancer	hst-3.2	3564879	Caenorhabditis elegans
DOID:219	colon cancer	Akt1 Bad Gsk3b Hs3st2 Prkaa1	24185 293451 64639 65248 84027	Rattus norvegicus (Norway rat)
DOID:219	colon cancer	hs3st2	571246	Danio rerio (zebrafish)
DOID:219	colon cancer	Axn Calr Hs3st-B sgg	31248 32918 41166 43565	Drosophila melanogaster (fruit fly)
DOID:2187	amelogenesis imperfecta	AKR1C1 AKR1C2 ENPP1 MMP25 TMEM165	1645 1646 5167 55858 64386	Homo sapiens (human)
DOID:2174	ocular cancer Aliases: Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper	FASN LIPG	2194 9388	Homo sapiens (human)

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