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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 **1351 - 1375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060218	CREST syndrome	CD22 FCGR3B MRC1	2215 4360 933	Homo sapiens (human)
DOID:4998	trichorhinophalangeal syndrome type II Aliases: Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2	EXT1	2131	Homo sapiens (human)
DOID:0050127	sinusitis	CTS2	851977	Saccharomyces cerevisiae S288C
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)
DOID:1142	alternating exotropia	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	gba-1 gba-2 gba-3 gba-4 gsto-1 parp-1 pgk-1	171965 173574 177314 178535 183000 183155 266823	Caenorhabditis elegans
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	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)
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	CYP11A1 FREM1 NEIL1 PAFAH1B1 PRNP	1583 158326 5048 5621 79661	Homo sapiens (human)
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	Piga	363464	Rattus norvegicus (Norway rat)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	fkrp.L	108698503	Xenopus laevis (African clawed frog)
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:1289	neurodegenerative disease Aliases: degenerative disease	Sarm1 Tpi1	24849 287545	Rattus norvegicus (Norway rat)
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	ACE CAT CD44 DCN FMOD HPGDS HPRT1 ICAM1 LGALS1 LGALS3 LRP5 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 RPE	1634 1636 2331 27306 3251 3383 3956 3958 4041 5290 5291 5293 5294 6120 8398 847 960	Homo sapiens (human)
DOID:2012	Nezelof syndrome Aliases: Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins	DGCR2 IL18R1 PNP	4860 8809 9993	Homo sapiens (human)
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)
DOID:5566	mature teratoma	ACAT1 ALPP DHCR24 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN	1718 2331 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	Hmgb1 Pdx1 Rbp4 Tnf	15289 18609 19662 21926	Mus musculus (house mouse)
DOID:114	heart disease	Gpi Gsk3b Ppargc1a	292804 83516 84027	Rattus norvegicus (Norway rat)
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	ADIPOQ FCN2 ICAM1 NTM RGMA STS TNF	2220 3383 412 50863 56963 7124 9370	Homo sapiens (human)
DOID:0080199	colorectal carcinoma	cht-1	180628	Caenorhabditis elegans
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)

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