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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 **5876 - 5900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)
DOID:7033	anisakiasis Aliases: Infection by Anisakis larva	SIGLEC8	27181	Homo sapiens (human)
DOID:12358	patulous eustachian tube	SCD	6319	Homo sapiens (human)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:9408	acute myocardial infarction	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 AGPAT2 AKR1A1 AKR1D1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLCG1 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RENBP SDC1 SDC4 SDHB SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5335 5337 5373 54187 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5973 60481 60495 6382 6385 6390 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9173 9197 929 9365 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)
DOID:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	CHI3L1 DPM2 GGT1 HPGDS PTEN PTGS2 TLR4	1116 2678 27306 5728 5743 7099 8818	Homo sapiens (human)
DOID:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	ACE APRT CACNA2D4 COMT DBT DGKH ETNPPL FADS1 G6PD GAD1 GAD2 GPC1 IMPA2 LDHA LMAN2L MCAT MPPE1 PAFAH1B1 PLCD1 PLCG1 SYNJ1	1312 160851 1629 1636 2539 2571 2572 27349 2817 353 3613 3939 3992 5048 5333 5335 64850 65258 81562 8867 93589	Homo sapiens (human)
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)
DOID:1260	parametritis Aliases: pelvic cellulitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)

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