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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 **6126 - 6150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:14219	renal tubular acidosis	ALDOB ATP6V0A2 CANX CPT1A CYP11B1 CYP11B2 CYP24A1 OCRL PC PFKM PFKP	1374 1584 1585 1591 229 23545 4952 5091 5213 5214 821	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ABO ACE ACHE ALDH3A2 ARSA ATP1A2 B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 477 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:0110516	autosomal recessive nonsyndromic deafness 65 Aliases: DFNB65 autosomal recessive deafness 65	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	MAPK14 SELP TNF	1432 6403 7124	Homo sapiens (human)
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)
DOID:0060548	luminal breast carcinoma A Aliases: Luminal A Breast Carcinoma	ACACA CDH13 CYP19A1 CYP7B1 FASN GLCE H6PD HMMR IDH2 IL18R1 PARP1 PDHB PGLS PIK3CA PLCG1 PTEN SMUG1	1012 142 1588 2194 23583 25796 26035 31 3161 3418 5162 5290 5335 5728 8809 9420 9563	Homo sapiens (human)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:11354	stone in bladder diverticulum Aliases: calculus in diverticulum of bladder	CEACAM5 CEACAM7 DPEP1	1048 1087 1800	Homo sapiens (human)
DOID:0070194	autosomal recessive chronic granulomatous disease 3 Aliases: CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency	MGAT2	4247	Homo sapiens (human)
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)
DOID:10458	legionellosis Aliases: Legionella infection	MBL2 PIKFYVE	200576 4153	Homo sapiens (human)
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ACE ACHE ACLY ACSS2 ADH5 AKR1B10 ARSA CACNA2D1 CALR CAT CYP46A1 ELOVL4 ELOVL5 ENO2 G6PD GAD2 GBA1 GPC5 HK2 HMGCL HPGDS HPSE HSD11B2 ICAM1 LGALS3 LIPA LTC4S MASP2 MBL2 MGLL NCAM1 NT5E PIK3CA PIK3CD PIK3CG PLA2G15 PLA2R1 PLB1 PTGS1 PTGS2 SCD SDC1 SELE SLC2A10 TM7SF2 TNF UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	10747 10855 10858 11343 128 151056 1636 2026 2262 22925 23659 2539 2572 2629 27306 3099 3155 3291 3383 3958 3988 4056 410 4153 43 4684 47 4907 5290 5293 5294 54575 54576 54577 54578 54657 54658 55902 57016 5742 5743 60481 6319 6382 6401 6785 7108 7124 7357 781 81031 811 847	Homo sapiens (human)
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)
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	KLRK1 MICA SMUG1 TLR2	100507436 22914 23583 7097	Homo sapiens (human)
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:4488	sarcomatoid mesothelioma Aliases: malignant fibrous mesothelioma spindled mesothelioma	MTAP	4507	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 CTNS CYP11B1 CYP11B2 CYP17A1 HSD11B2 OCRL SLC2A2	1497 1584 1585 1586 231 3291 4952 6514	Homo sapiens (human)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABO ACADS ACE ACO1 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BAD BCKDHB BPHL BRAF C1GALT1C1 CALR CAT CBR1 CBR4 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CSPG4 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP51A1 DAG1 DCN DCTD DGKA DHCR24 DHDDS DLD DPEP1 EFNA2 ENO1 ENPP1 EPHX2 FADS1 FASN FBP1 FCGR3B FCN2 FDPS FH FOLR1 FOLR2 FUT2 FUT3 FUT4 GAD1 GAD2 GALNT14 GALNT3 GALNT5 GAPDH GCK GCNT1 GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GLO1 GLUL GNE GP2 GPC1 GPC3 GPC5 GPI GPNMB GPX1 GPX2 GUSB HK2 HMMR HPGDS HPSE HS3ST2 HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B INS KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 LYPLA1 MACROD1 MAG MCAT MDH1 ME2 ME3 MGAT4A MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB3 PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G15 PLA2G4A PLAUR PNLIP PNP PNPLA2 PPARD PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK REG3G RGN SDC1 SDC3 SELE SELP SEMA7A SFTPD SGMS1 SIRT2 SIRT4 SIRT6 SLC35F6 SLC5A1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 ST6GAL1 SULF1 SULF2 TDG TM7SF2 TNFRSF10C TP53 TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAM1 VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10434 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 11320 120227 124 125 126 127 128 130 130120 1312 135228 142 143 1431 1462 1464 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 207 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 23600 23659 240 242 246 248 250 2524 2525 2526 2571 2572 2591 259230 2597 2645 2650 2673 2674 2675 2678 2719 27306 27349 2739 2752 28 2813 2817 2821 284348 2876 2877 28992 29071 2990 308 3099 3161 3339 3373 337876 3383 3384 3417 3482 35 353 3630 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 4099 417 4190 4200 427 4360 4507 4594 4595 4680 4684 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5209 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 5467 54978 5563 55753 55902 55959 5621 56848 56994 57016 57104 57124 5716 572 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 673 6996 7108 7157 7360 7368 7372 7412 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 8434 847 8473 8482 84869 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953 9956	Homo sapiens (human)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ACO2 ADH7 B3GALNT2 CRPPA DAG1 FKRP FKTN GNS HGSNAT HSD17B6 IDH3B INPP5E LARGE1 PCYT1A PGAP1 PGK1 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 PRPS1 RPE RXYLT1 SGSH SRD5A3	10329 10585 10908 131 138050 148789 1605 2218 2799 3420 50 5130 5230 55624 5631 56623 6120 6448 729920 79147 79644 80055 84197 84892 8630 9215	Homo sapiens (human)
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	ALDOA APRT CD44 CEACAM5 CYP1A1 DLAT ENPP1 ENPP3 HK2 IDH2 MGAT5 MSLN PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	10232 1048 1543 1737 226 3099 3418 353 4249 5167 5169 5290 5291 5293 5294 5728 5743 960	Homo sapiens (human)

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