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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 **2676 - 2700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)	DisGeNET
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO ACE CD14 CEL CHI3L1 IL18R1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SFTPA1 SLC27A5 SMUG1 TLR2 TNF	1056 10998 1116 1636 23583 28 4684 5290 5291 5293 5294 5743 653509 7097 7124 83666 8809 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2889	retrocochlear disease	SUCLA2	8803	Homo sapiens (human)	DisGeNET
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	ACAT1 ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4 SMPD1 SOAT1	1048 1593 2053 240 2538 2542 2817 38 5742 6609 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	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:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	CALR CD55 CYP2C9 GPLD1 PIGM	1559 1604 2822 811 93183	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ACSS2 AGPAT2 AKR1A1 AKR1B10 ALOX5 ALPI ALPP ARSA CAT CD109 CD44 CEACAM5 CEACAM6 CEACAM7 CYP1A1 CYP1A2 DCTD DPEP1 GAPDH GPC1 HMMR HPGDS HPSE ICAM1 IL1RAP IL1RL1 KL L1CAM LGALS3 LGALS4 MRC1 MSLN MTAP NTHL1 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLPP5 PNP PTEN PTGS2 SDC1 SDC2 SDHB SELL SFTPD SMUG1 ST3GAL3 ST3GAL4 STS THEM4 TM7SF2 UGT1A7	10232 10327 1048 10555 10855 1087 117145 135228 1543 1544 1635 1800 23583 23659 240 248 250 2597 27306 2817 3161 3383 3556 3897 3958 3960 410 412 4360 4507 4680 4860 4913 5290 5291 5293 5294 54577 55902 57016 5728 5743 6382 6383 6390 6402 6441 6484 6487 7108 8050 84513 847 9173 9365 960	Homo sapiens (human)	DisGeNET
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSS2 AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6609 6646 6783 6916 7086 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10327	anthracosis Aliases: Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung	CAT GGT1 IL18R1 MBL2 OGG1 PTGS2 SELE UGT8	2678 4153 4968 5743 6401 7368 847 8809	Homo sapiens (human)	DisGeNET
DOID:0110733	neuronal ceroid lipofuscinosis 9 Aliases: CLN9	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CYP19A1 LCT LGALS3 PTGES PTGS2 SMUG1	1588 23583 3938 3958 5743 9536	Homo sapiens (human)	DisGeNET
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)	DisGeNET
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	ALDH7A1 AMACR ANXA5 CD14 CD44 CD55 CMAS CYP1A2 CYP1B1 CYP2C8 EPHX2 FASN HSD11B1 L1CAM LDHA LYZ MCAT MGLL MTAP NCAM1 NDST1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCB4 PTEN PTGS2 SDHA SDHB SDHC SDHD SELP SLC2A4 SMUG1 SOAT1 SORD TKTL1 VCAN	11343 1462 1544 1545 1558 1604 2053 2194 23583 23600 27349 308 3290 3340 3897 3939 4069 4507 4684 501 5286 5290 5291 5293 5294 5315 5332 55907 5728 5743 6389 6390 6391 6392 6403 6517 6646 6652 8277 929 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)	Alliance of Genome Resources
DOID:711	refractory hairy cell leukemia	CD22	933	Homo sapiens (human)	DisGeNET
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:591	phobic disorder	ABAT ABO ACACA ACE ACHE AKR1C1 AKR1C3 ALDH2 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSI B3GAT1 CAT CHGA CNTN3 COMT CYP17A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS GAD1 GAD2 GALNS GLO1 GOLPH3 GPNMB HSD11B2 INPP5K L1CAM LGALS3 LIPA LYPD6 MANEA MGLL MPI NANS PAFAH1B1 PARP1 PC PCYT1A PMM2 PSAP PTGS2 SDHD SIRT6 SLC33A1 SMUG1 SRD5A1 UGT2B15 UMOD	10457 1113 11343 130574 1312 142 1544 1555 1557 1571 1586 1636 1645 18 2023 217 2224 23583 249 2571 2572 2588 27087 2739 276 277 278 28 31 3291 340075 3897 3958 3988 410 414 43 4351 5048 5067 5091 5130 51548 51763 5373 54187 5660 5743 6392 64083 6715 7366 7369 79694 847 8644 9197	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110058	amelogenesis imperfecta type 1E Aliases: AIH1 X-linked amelogenesis imperfecta 1 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type IE	AKR1C1 AKR1C2 MMP25 SLC17A5 TMEM165	1645 1646 26503 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11693	acute apical periodontitis Aliases: acute apical periodontitis of pulpal origin	LGALS3	3958	Homo sapiens (human)	DisGeNET
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)	DisGeNET

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