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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 **1326 - 1350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110505	autosomal recessive nonsyndromic deafness 48 Aliases: DFNB48 autosomal recessive deafness 48	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:9651	systolic heart failure	ACE CYP19A1 LGALS3 PTGS2 SFTPA1	1588 1636 3958 5743 653509	Homo sapiens (human)	DisGeNET
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)	DisGeNET
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:679	basal ganglia disease	DLAT GAD1 GAD2 GCDH GLDC GLUL HPRT1 MMUT PDHA1 PIGN PIGP PIGQ PLA2G1B PLA2G2A PLA2G6 PLB1 ST8SIA3	151056 1737 23556 2571 2572 2639 2731 2752 3251 4594 51046 51227 5160 5319 5320 8398 9091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4929	tubular adenocarcinoma Aliases: tubular carcinoma	A4GALT A4GNT ABO ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ATP6AP2 B3GALT1 B3GALT5 C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST5 CNTN1 COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 G6PD GAL3ST1 GALNS GALNT3 GALNT6 GCNT1 GGT1 GPC1 GPC3 GPX1 GPX3 HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD17B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGLL MICA MMP17 MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDHB SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT2B17 UGT8 VCAM1 VTCN1	100507436 1012 10135 10159 10232 10317 10327 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1543 1544 1545 1571 1585 1586 1588 1591 1594 1604 1605 1636 1646 1718 1738 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2539 2588 2591 2650 2678 2719 27306 27349 276 277 278 28 2817 283871 284348 2876 2878 2923 3036 3037 3038 308 310 3290 3292 3383 3417 3418 3482 353 38 3939 3945 3958 3960 4023 4048 4069 412 4199 4326 4360 4507 4595 4669 4680 4684 4758 4907 4968 4973 4978 5095 5096 51146 51196 51477 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 55600 5563 55959 5621 56913 56994 57016 57104 57214 5728 5740 5742 5743 60495 6319 6382 6390 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 7086 7167 729238 7367 7368 7412 79679 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8930 8972 9104 9126 9197 9365 9420 9514 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9487	Meckel's diverticulum Aliases: Meckel Diverticulum Persistent vitelline duct	ACSL4 ALG13 GPC3 IL1RAPL1	11141 2182 2719 79868	Homo sapiens (human)	DisGeNET
DOID:8440	ileus Aliases: Ileus of intestine	ACSBG1 CD55 GGT1 PTGES PTGS2 SDHA SDHB SDHC SDHD	1604 23205 2678 5743 6389 6390 6391 6392 9536	Homo sapiens (human)	DisGeNET
DOID:1526	panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)	DisGeNET
DOID:9650	pathologic nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3307	teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PGM3 PSMD10 PTEN SMUG1 TYMP	1718 1890 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5238 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2744	pyelitis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	ACSF3 ALDH6A1 MCEE MMUT PIK3CA SUCLA2 SUCLG1 SUCLG2	197322 4329 4594 5290 84693 8801 8802 8803	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACACA ACE CALR FDPS GALNT1 IDS IL1R1 LRP5 TNF	1636 2224 2589 31 3423 3554 4041 7124 811	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11111	hydronephrosis	ACE B3GLCT B4GAT1 CHST14 COG1 COG7 CPT2 CYP1A1 EBP G6PC3 GPC3 HPSE2 IDH2 MASP1 NAGLU NSDHL OGA PGAP2 PGAP3 PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PLD1 PTGES PTGS2 TBXAS1 VNN1	10682 10724 11041 113189 1376 145173 1543 1636 23556 2719 27315 284098 3418 4669 50814 5337 55650 5648 5743 60495 6916 84720 84992 8876 9091 91949 92579 93210 9382 9487 9536	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3664	mast cell neoplasm Aliases: Mast cell Proliferative disease mast cell tumor mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TP53 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4199 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7157 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070172	spermatogenic failure 15 Aliases: SPGF15	CYP2E1	1571	Homo sapiens (human)	DisGeNET
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT BAD CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 TLR4 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 572 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7099 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
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)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1835	mononeuritis multiplex	IDH1 IDH2 SDHD	3417 3418 6392	Homo sapiens (human)	DisGeNET DisGeNET

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