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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 **3776 - 3800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	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
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)	DisGeNET
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SLC25A1 SULT1E1	130749 1312 2629 27163 3340 410 6576 6783 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2301	atrophy of prostate	AMACR	23600	Homo sapiens (human)	DisGeNET
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11156	anhidrosis Aliases: Adiaphoresis absence of sweating	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)	DisGeNET DisGeNET
DOID:11206	opioid abuse	NCAM1	4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:4440	seminoma Aliases: Seminoma, Pure	ACACA ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 KCNQ1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCNA PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PLAAT3 PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TYMP UGT1A1	1047 11145 124912 1543 1551 1555 1577 1586 1588 1636 1890 220 23213 23583 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3784 3897 3948 3958 412 4360 501 5111 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080016	spina bifida	ABO APEX1 ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A	1119 1312 2262 2348 2350 28 3098 328 3705 410 5130 51477 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	CERS1 EPM2A GBA1 NEU1 PRNP	10715 2629 4758 5621 7957	Homo sapiens (human)	DisGeNET
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5	240	Homo sapiens (human)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	ACO1 CACNA2D3 CAT CD55 GOLPH3 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 64083 8398 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:200	benign giant cell tumor	EFNA1 IDH1 MRC1	1942 3417 4360	Homo sapiens (human)	DisGeNET
DOID:0090034	myoclonic dystonia 11	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI CA4 CANX CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 57104 5728 60506 6120 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)	DisGeNET
DOID:0050589	inflammatory bowel disease	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSL1 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ARSF ASAH2 ATP6V0A2 B3GAT1 BCKDHA C1GALT1C1 CALR CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CERS2 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CPT1A CTBS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ELOVL7 ENO1 EPHX2 FADS1 FADS2 FASN FCER2 FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALC GALM GALNT2 GAPDH GGT1 GLB1 GP2 GPX1 GPX2 GUSB HADHA HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 L1CAM LACC1 LCT LGALS1 LGALS2 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 MCAT ME1 MGAT1 MGAT3 MGAT5 MGLL MICA MPG MRC1 MTMR3 MUTYH NAAA NAMPT NCAM1 NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PC PCYT1B PGAP3 PGD PGP PIGA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PNPLA3 PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SFTPA1 SFTPD SGPP1 SGPP2 SLC2A3 SLC2A5 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 STS SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF 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 1374 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 2180 2194 2208 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 240 248 250 2524 2525 2526 253430 2581 2590 2597 2678 27087 27163 2720 27306 27349 275 276 277 278 28 2813 283871 2876 2877 29071 2990 29956 3030 30835 31 3161 3251 3290 3291 3383 3384 3417 3418 3425 3481 3554 3635 38 3897 39 3938 3956 3957 3958 3960 3965 3992 4023 4048 4051 4069 410 412 4153 416 4199 4245 4248 4249 43 4350 4360 4595 4680 4684 4758 4907 4968 50 5048 5091 51363 51477 5226 5277 5289 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 5563 55808 55902 5621 5660 56624 56994 57016 57103 5716 5728 5730 5742 5743 593 5968 6382 6401 6402 64090 64116 6441 64581 6515 6518 653509 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 79993 80329 80339 80896 811 81537 8398 8399 847 8529 8547 8692 873 8794 8803 8807 8808 8809 8876 8877 8897 912 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 9536 960 9663 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)	DisGeNET
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)	DisGeNET
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 CYP2B6 GBE1	1555 2632 48	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8738	leukoplakia of penis Aliases: Kraurosis of penis Penile Leukoplakia	INPP5E	56623	Homo sapiens (human)	DisGeNET

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