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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 **2051 - 2075** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)
DOID:10481	diaphragm disease	CYP2C9 GAA TPI1	1559 2548 7167	Homo sapiens (human)
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	CEACAM5 CEACAM7 PTEN	1048 1087 5728	Homo sapiens (human)
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ABO ACHE B3GALT6 CD14 CNTN5 CNTN6 COMT CSGALNACT2 CYP2B6 ENO2 FH GFRA1 GFRA2 GFRA4 ICAM1 IL1RL2 INPP5E ITPKC L1CAM PGAP2 PGAP3 PGP PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CG PLCB1 PTGES SIGLEC8 SLC2A1	126792 1312 1555 2026 2271 23236 23556 2674 2675 27181 27255 27315 28 283871 284098 3383 3897 43 5277 5294 53942 55454 55650 56623 64096 6513 80271 84720 84992 8808 929 93210 9487 9536	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:10493	adrenal cortical hypofunction Aliases: Adrenal Cortical Insufficiency Corticoadrenal insufficiency	CD14 CLEC16A CYP11A1 CYP11B1 CYP17A1 CYP21A2 CYP27B1 CYP2B6 GAD2 GLUL GMPPA HSD11B1 HSD17B4 LIPA MICA PLA2G2A SGPL1 TM7SF2 UGT2B28	100507436 1555 1583 1584 1586 1589 1594 23274 2572 2752 29926 3290 3295 3988 5320 54490 7108 8879 929	Homo sapiens (human)
DOID:10533	viral pneumonia	ACE CHI3L1	1116 1636	Homo sapiens (human)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	A4GNT ABO ACACA ACE ACHE ACLY ACO2 ACSL4 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGA AKR1A1 AKR1B10 AKR1B1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOB ALOX12 ALOX15 ALOX5 ALPP AMY2A ANXA4 ANXA5 ANXA7 APRT ARSF ARSI ATP6V1A B3GAT1 BAAT BST2 CACNA2D1 CACNA2D3 CALR CANX CAT CBR1 CD14 CD177 CD1D CD248 CD33 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHPT1 CLEC1B CNTN1 COG2 COG8 COMT CPT1A CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DCN DHDDS DHRS11 DLD DPAGT1 EBP ECHS1 EFNA1 EFNA2 ENO1 ENOSF1 FADS1 FADS2 FASN FBP1 FBP2 FBXO2 FH FKTN FOLR1 FOLR2 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 GAL3ST1 GALE GALNS GALNT1 GALNT2 GALNT5 GALNT6 GAPDH GAS1 GBA3 GFPT1 GGT1 GLB1 GLDC GLO1 GLUL GOLPH3 GPAA1 GPC3 GPI GPNMB GPX1 GPX2 GPX3 GUSB HACD1 HAS1 HK1 HK2 HMMR HPGDS HPSE HS6ST2 HSD11B2 HSD17B1 HSD17B2 HSD17B7 HSD3B1 ICAM1 ICAM2 IDH1 IDH2 IDH3B IDUA IGF2R IL18R1 IL1RL1 IL6ST INPP5K INPPL1 ISYNA1 ITLN1 KLRK1 L1CAM LDHA LGALS1 LGALS2 LGALS3 LGALS9 LIPF LMAN2 LYPD5 LYZ MBD4 MBL2 MBOAT7 MCAT MDGA2 MELTF MGAT5 MICA MMP25 MMUT MRC1 MSLN MTAP MTMR2 MTMR3 MUTYH NAGLU NAMPT NANS NCAM1 NEIL1 NEIL2 NEU1 NEU2 NGLY1 NT5E NTHL1 OARD1 OGG1 OGT OPCML PARP1 PCCA PCNA PDHA1 PDIA3 PFKFB1 PFKFB2 PFKFB3 PFKFB4 PGAM1 PGAP3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKD1 PKM PLA2G2A PLAUR PLCD1 PLCE1 PLCG2 PLD1 PLPP1 PNPLA2 PPAT PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGS1 PTGS2 RECK RGN RPN2 SARM1 SDC1 SDHA SDHB SDHC SDHD SELE SELL SGPP1 SGPP2 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A4 SLC35B4 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL6 ST6GAL1 ST6GALNAC1 STS SUCLG1 SULF1 SULF2 SULT1E1 TDG TFF1 TIGAR TKT TKTL1 TM7SF2 TMED6 TMEM260 TNKS TP53 TPI1 TYMP UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 ULBP1 UMPS UPP1 VCAM1 VCAN VTCN1	100507436 1012 10135 10232 10327 10402 10457 1048 10682 10855 1087 10960 1113 1116 11226 11227 124 125 126 127 1272 128 130 130367 131 1312 1374 138429 142 1462 146456 1543 1544 1555 1557 1571 1576 1588 1604 161357 1634 1636 170384 1738 175 1798 1836 1890 1892 1942 1943 2023 217 218 2182 2194 220 2203 221443 2218 2271 22796 229 22914 22933 23098 231 23213 23409 2348 2350 23583 239 240 246 250 2523 2524 2525 2526 2527 2528 252969 253782 2582 2588 2589 2590 2597 2619 26232 2673 2678 27087 2719 2720 27306 2731 27349 2739 2752 279 28 2821 284348 2876 2877 2878 2923 2990 3036 307 308 3098 3099 31 310 3161 3283 3291 3292 3294 3383 3384 340075 3417 3418 3420 3425 3482 353 3572 3636 3897 3939 3956 3957 3958 3965 3992 4051 4069 412 4153 416 4241 4249 43 4360 4507 4594 4595 4669 4680 4684 47 4758 4759 4907 4913 4968 4978 50 501 5095 5111 51146 51196 51266 51477 51478 51548 5160 51763 5207 5208 5209 5210 5223 523 5230 5290 5291 5293 5294 5310 5315 5320 5329 5333 5336 5337 54187 54575 54576 54577 54578 54600 54657 54658 5471 54916 55556 55600 5563 55768 55799 55808 55902 55959 5621 5660 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57733 6185 6382 6389 6390 6391 6392 6401 6402 64083 64386 6472 6480 6487 6517 6646 6783 684 6996 7031 7086 7108 7157 7167 7357 7366 7372 7378 7412 781 79143 79154 79611 79661 79679 79947 80329 811 81537 821 8277 8434 84342 847 8473 84912 8513 8611 8644 8658 873 8733 8789 8802 8809 8877 8897 8898 8930 90161 9104 912 9173 9200 929 93210 9415 945 9514 960 972 98	Homo sapiens (human)
DOID:10540	gastric lymphoma Aliases: Lymphoma of the stomach	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)
DOID:10541	microinvasive gastric cancer Aliases: Surface gastric cancer early gastric cancer	ACE CD44 CEACAM5 CEACAM7 FASN L1CAM MDGA2 PTEN PTGS2 SMUG1	1048 1087 161357 1636 2194 23583 3897 5728 5743 960	Homo sapiens (human)
DOID:10548	cardia cancer Aliases: Ca cardia - stomach malignant neoplasm of cardia of stomach	CD44 SPHK1 UGT2B7	7364 8877 960	Homo sapiens (human)
DOID:10554	meningoencephalitis	ACE ARSA B3GAT1 CAT CD55 COMT CYP7B1 DEGS1 ENO2 FUCA1 GPX1 HADHB IGF2R MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1312 1604 1636 2026 22934 2517 27087 2876 3032 3482 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:1056	oculocerebrorenal syndrome Aliases: Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe	ARSH G6PD HPRT1 INPP5A INPP5D INPP5E INPP5K MTM1 NAGLU OCRL PAFAH1B1 PTEN	2539 3251 347527 3632 3635 4534 4669 4952 5048 51763 56623 5728	Homo sapiens (human)
DOID:10573	osteomalacia	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:10575	calcium metabolism disease	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	ARSA ARSB ARSG DEGS1 FUT1 GALC GALNS GBA1 GLB1 IDS PSAP SMPD1 STS SUMF1	22901 2523 2581 2588 2629 2720 285362 3423 410 411 412 5660 6609 8560	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI BCAN CA4 CANX CAT CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PRPS1 PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 5631 57104 5728 60506 6120 63827 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 847 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	ARSA ASAH1 CHIT1 DEGS1 EBP GALC GLB1 IDUA IGF2R PLA2G1B PLB1 PSAP	10682 1118 151056 2581 2720 3425 3482 410 427 5319 5660 8560	Homo sapiens (human)
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ACE ACHE ACSBG1 ACSBG2 ADH1C ADH5 AKR1A1 AKR1B1 ALDH2 ALDH7A1 APRT ARSB CD14 CD1D CD38 CD44 CH25H CHAT CHI3L1 CHIT1 CHKB CHST3 COLGALT1 COMT CPT1B CYP1A2 CYP21A2 CYP2B6 CYP2C9 CYP2E1 CYP3A4 CYP4F2 DLAT EBP ECHS1 ELOVL1 ELOVL7 EPM2A FUT1 G6PD GAD2 GALNT14 GGT1 GLB1 GLUL GPAT2 GPC5 HADH HADHB HPGDS HS6ST3 HSD11B1 HSD17B4 HSPG2 ICAM1 IDH2 IDS IDUA L1CAM LPIN1 MAG MBL2 MBOAT2 MBOAT7 MDGA2 MGAT1 MGLL NAMPT NCAM1 NCAN NDST3 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLB1 PNPLA3 PRKAA2 PRNP PTEN RTN4R SGSH SIRT6 SLC17A5 SLC27A5 SPHK1 SPHK2 ST8SIA4 SUMF1	10135 10327 10682 10998 1103 1116 1118 1120 11343 126 128 129642 1312 1375 142 1463 150763 151056 1544 1555 1559 1571 1576 1589 161357 1636 1737 1892 217 2262 22925 231 23175 23205 2523 2539 2572 26503 266722 2678 2720 27306 2752 285362 3032 3033 3290 3295 3339 3383 3418 3423 3425 353 3897 4099 411 4153 4245 43 4684 501 51548 5290 5291 5293 5294 5563 5621 56848 5728 60506 6448 64834 65078 7903 79143 7957 79623 79709 79993 80339 81616 8529 8877 9023 912 929 9348 9469 952 960	Homo sapiens (human)
DOID:1059	intellectual disability	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CHKB CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K IRS2 KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NDST2 NDST3 NDST4 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 1120 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 64579 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 8509 85365 8660 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9348 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACOT7 AKR1C3 ANXA5 ATP6AP2 CALR CHI3L1 COMT CYP11B1 CYP11B2 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 CYP3A5 EFNA1 ENPP1 GAPDH GPI GPX1 GPX3 HADHA HPGDS HSD11B1 HSD11B2 HSD3B1 HSD3B2 HSPG2 ICAM1 IL18R1 ISYNA1 LEP LEPR LGALS1 LIPC LPL MBL2 OGG1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G6 PLAUR PLB1 PTGDS PTGS1 PTGS2 PYGM RBP4 RENBP SDC1 SELL SIRT4 SLC17A5 SLC2A1 TLR4 TNF VCAM1	10159 1116 11332 120227 1312 151056 1573 1577 1584 1585 1588 1589 1591 1594 1636 1942 23409 2597 26503 27306 2821 2876 2878 3030 308 3283 3284 3290 3291 3339 3383 3952 3953 3956 3990 4023 4153 4968 4973 51477 5167 5290 5291 5293 5294 5320 5329 5730 5742 5743 5837 5950 5973 6382 6402 6513 7099 7124 7412 811 8398 8644 8809	Homo sapiens (human)

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