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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 **5126 - 5150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 CD14 CD44 CYP4A11 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1579 1636 207 22845 284541 285203 4351 5290 5310 5311 56623 7369 929 9420 960	Homo sapiens (human)
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)
DOID:11155	hypohidrosis Aliases: Oligohidrosis	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)
DOID:4232	extraosseous Ewing sarcoma Aliases: extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom	AGXT LCT	189 3938	Homo sapiens (human)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	ACHE CHI3L1 CLN5 EPM2A GBA1 GLUL GYG1 GYS1 GYS2 NHLRC1 PFKL PPP1R3B PTEN	1116 1203 2629 2752 2992 2997 2998 378884 43 5211 5728 7957 79660	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ABO ACACA ACACB ACAT1 ACE ACOT7 ACSL5 ACSS2 AGXT AKR1B10 AKR1B1 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 B3GAT1 B3GNT5 B4GALNT1 BAAT BCAN BDH2 CALR CANX CAT CBR1 CD109 CD14 CD22 CD248 CD33 CD38 CD44 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS2 CH25H CHAT CHI3L1 CHPT1 CHST15 CHSY1 CLEC18B CLEC5A CMAS CNTN2 CNTN3 CPT1A CPT1C CS CSPG4 CYB5R2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2E1 CYP46A1 DAG1 DBT DCN DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD EBP ECHS1 EFNA2 ELOVL2 ENO1 ENO2 ENPP1 ENPP2 EXTL3 FADS2 FASN FBP1 FDFT1 FDPS FMOD FOLR1 FUT4 G6PC1 GALNT14 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLO1 GLUL GML GOLPH3 GPC1 GPD1 GPI GPNMB GPX3 HACD1 HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5B INPP5K INPPL1 KL KLRC3 KLRK1 L1CAM L2HGDH LDHA LGALS1 LGALS3 LGALS8 LGALS9 LSS MAN2A1 MCAT ME1 ME2 MGAT1 MGAT5 MICA MMP25 MMUT MPG MRC1 MSLN MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NEU1 NEU3 NEU4 NT5E OCRL OGA OLR1 OPCML PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PI4K2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G4A PLAUR PLCB1 PLCG1 PLD2 PLOD3 PLPP1 PLPP3 PNP POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PSAP PTEN PTGDS PTGS1 PTGS2 RECK RTN4R SDC1 SDC2 SDHA SELP SGMS1 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC35F1 SLC37A4 SLC3A1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SUCLG1 SULF1 SULF2 SYNJ1 SYNJ2 THEM4 TIGAR TKT TKTL1 TM7SF2 TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 ULBP1 UMOD UNG VCAM1 VNN2 VTCN1	10039 100507436 1012 10135 10159 10232 1040 10457 1048 10682 10724 10825 10855 10858 1087 1103 1116 11181 11332 117145 126129 129807 135228 1374 142 1431 1464 1545 1555 1571 1586 1588 1593 1594 1605 1606 1629 1634 1636 1718 1738 189 1890 1892 1943 2023 2026 2137 218 2194 220 2203 2222 2224 222553 22856 22914 22918 22933 231 23213 23236 2331 2348 23545 23583 23601 240 248 250 2526 2538 2542 2583 259230 2597 2619 2673 27087 27180 2720 27306 27349 2739 2752 2765 28 2817 2819 2821 2878 2923 29956 308 3098 3099 31 310 3161 32 3339 3340 3383 3417 3418 3425 353 3633 3636 378 38 3823 3897 3939 3956 3958 3964 3965 4047 410 412 4124 417 4199 4200 4245 4249 427 4350 4360 4507 4594 4684 4758 4860 4907 4952 497190 4973 4978 501 5048 5067 5130 51363 51548 5167 5168 51700 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5321 5329 5335 5338 54187 54898 55247 55361 5538 5552 55624 5563 55902 55907 55959 5621 5631 5660 56848 56898 56994 570 57016 57103 57124 5728 5730 5742 5743 6382 63827 6383 6389 6403 64083 64386 6480 6489 65078 6515 6519 6646 6900 7086 7108 7157 7167 7357 7358 7360 7369 7374 7412 7903 79623 79679 7991 79944 79947 80270 80329 811 821 8277 84002 8434 847 8505 8525 85365 8560 8611 8613 8658 873 8794 8802 8809 8867 8871 8875 8877 8985 9023 9162 9200 929 933 9365 9415 945 952 960 972	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:2529	splenic disease Aliases: Dyssplenism Spleen disease	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ACE ACOT7 ENO2 EPHX2 GAD1 GAD2 GLUL ICAM1 MGAT1 MICA NPY1R PLD1 PLD2 PRNP PTGS2 RGMA SC5D SEMA7A SMUG1	100507436 11332 1636 2026 2053 23583 2571 2572 2752 3383 4245 4886 5337 5338 5621 56963 5743 6309 8482	Homo sapiens (human)
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)
DOID:7427	anthrax disease	CALR GALNS HACD1 LGALS1 PARP1 PLB1 STT3A	142 151056 2588 3703 3956 811 9200	Homo sapiens (human)
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:50	thyroid gland disease	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	ACE ALDH1A3 ALG9 APRT ARF4 B3GLCT CALR COMT CPT2 CYP4A11 DHCR7 GANAB GLA GPC3 INPP5E PGD PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKCSH PTGDS PTGS1 PTGS2 SELE SMC3 XYLT2	114780 1312 1376 145173 1579 1636 1717 220 23193 23556 2717 2719 342372 353 378 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5589 56623 5730 5742 5743 6401 64132 79796 811 9126	Homo sapiens (human)
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	Homo sapiens (human)
DOID:0110729	neuronal ceroid lipofuscinosis 6A Aliases: CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SMPD1	1203 22901 2571 2572 3956 47 5310 5538 5660 6609 7957 9374	Homo sapiens (human)
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	CPT1B IL1R1 LPIN2 PIGN RPE	1375 23556 3554 6120 9663	Homo sapiens (human)
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)

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