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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 **3526 - 3550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)	DisGeNET
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	ABO ACACA ACAT1 ACAT2 ACE ACSL3 ADH1A ADH1B ADH4 AGA AGL AKR1A1 AKR1B10 AKR1B1 ALDH2 ALDH7A1 ALG10 ALPP APRT ARF4 ATRNL1 B3GAT1 BST2 CAT CD14 CD1D CD209 CD33 CD38 CD44 CD55 CEL CH25H CHI3L1 CHIT1 CHPT1 COMT CPT1A CPT2 CRLS1 CYP17A1 CYP1A1 CYP1A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DDOST DGAT1 DGAT2 DHCR24 DHCR7 EBP EDEM1 EDEM3 ENPP1 ENPP2 EXT1 FASN FBP1 FCGR3B FCN2 FUT1 FUT8 G6PC1 GALNT8 GAPDH GFRA1 GGT1 GLT8D2 GLTP GOLPH3 GP2 GPC3 GPX1 GPX2 GUSB HACD1 HADHA HJV HK2 HMGCS1 HMGCS2 HPGDS HPSE2 HPSE HSPG2 ICAM1 IL1R1 IL1RAPL2 IL1RL2 INPPL1 ISYNA1 KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPA LPCAT1 LPL LY75 MASP1 MASP2 MBL2 MBOAT7 MICA MPG MRC1 NAAA NCAM1 NCAN NEIL1 NEIL2 OGG1 OGT PCK2 PCYT1A PDIA3 PI4KA PI4KB PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4C PLB1 PNPLA3 PRNP PSMD10 PTEN PTGES3 PTGS2 QPRT RECK RENBP SCD SDC1 SDC2 SDC3 SDC4 SDHC SIGLEC1 SLC17A5 SLC2A2 SLC35A2 SOAT1 SRD5A2 STS TM7SF2 TMED5 UGGT1 UGT1A1 UGT1A7 ULBP1 VCAN	100507436 10327 1056 10682 10728 10747 10855 1116 1118 120227 124 125 127 1312 1374 1376 1462 1463 148738 151056 1543 1544 1555 1557 1559 1571 1576 1577 1586 1591 1593 1594 1604 1636 1650 1717 1718 175 178 2131 217 2181 2194 2203 2215 2220 22914 231 23475 250 2523 252969 2530 2538 2597 26033 26280 26290 26503 2674 2678 27087 27163 2719 27306 28 2813 2876 2877 2923 2990 3030 30835 3099 31 3157 3158 3339 3383 353 3554 3636 378 38 3820 3821 3824 39 3956 3958 3960 3965 3988 4023 4051 4065 412 4153 4350 4360 4684 4968 501 50999 5106 51228 5130 51477 5167 5168 5287 5289 5290 5291 5293 5294 5297 5298 5315 5319 54577 54658 54675 5621 5648 56886 56994 57016 5716 5728 5743 5973 60495 6319 6382 6383 6385 6391 64083 6514 6614 6646 6716 684 7108 7355 79143 79661 79888 80267 80329 80339 83468 8434 84649 847 8473 84920 8605 8694 8808 9023 912 9200 929 945 952 960 9672 9695	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)	DisGeNET
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	ANXA5 CD44 IL18R1 KLRK1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC4 SELL SOAT1	142 22914 308 4507 5290 5291 5293 5294 5335 5728 6385 6402 6646 8809 960	Homo sapiens (human)	DisGeNET
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4236	carcinosarcoma Aliases: MMMT malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor	NCAM1 PIK3CA PTEN SMUG1	23583 4684 5290 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	ALOX12 ENPP1	239 5167	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	CD1D COLEC11 FCN2 MASP2 MBL2	10747 2220 4153 78989 912	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FREM1 NT5E	158326 4907	Homo sapiens (human)	DisGeNET
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	ACHE ACYP2 ADH1B ALG1 ALG3 ANXA5 CAT CD44 CYP2E1 CYP3A4 CYP3A5 CYP4F3 FADS1 FADS2 GALNT7 GPX1 HK2 HPGDS HPSE INPPL1 LGALS1 LTA4H MMP25 MMUT MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PPP1R3A PRKAA2 PTEN PTGS2 ST8SIA4 STS UGT1A1 VCAN	10195 10855 125 142 1462 1571 1576 1577 27306 2876 308 3099 3636 3956 3992 4048 4051 412 43 4507 4594 4907 51809 5290 5291 5293 5294 5311 5335 54658 5506 5563 56052 5728 5743 64386 7903 847 9415 960 98	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	ACHE AKR1B10 CALR CHST3 COMT CYP4A11 CYP4F2 DLD G6PC3 ICAM1 PGP PIK3CA PTGS2 SELE STS	1312 1579 1738 283871 3383 412 43 5290 57016 5743 6401 811 8529 92579 9469	Homo sapiens (human)	DisGeNET
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	GBA1 PSAP	2629 5660	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:1659	supratentorial cancer Aliases: Brain neoplasm, Supratentorial malignant Supratentorial tumor	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)	DisGeNET
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)	DisGeNET
DOID:5870	eosinophilic pneumonia Aliases: Pneumonia, eosinophilic	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110755	type 1 diabetes mellitus 18 Aliases: IDDM18 Insulin-Dependent Diabetes Mellitus 18	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2838	stress polycythemia Aliases: Gaisbock's syndrome Polycythemia, emotional	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)	DisGeNET
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CLC CNTN1 CYP1B1 CYP3A4 DCN DHCR24 DLD DPEP1 ENPP7 FH FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS ICAM1 KL KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1545 1576 1604 1634 1718 1738 1800 192134 220 2271 22914 22934 23583 23659 246 250 2526 2539 2645 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5335 5336 54659 5563 55902 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 811 8398 8399 8658 873 9365 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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