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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 **3851 - 3875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	Trp53	22059	Mus musculus (house mouse)
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	Braf	109880	Mus musculus (house mouse)
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	enol-1 ogt-1	174423 176000	Caenorhabditis elegans
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:0110723	neuronal ceroid lipofuscinosis 8 Aliases: CLN8	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:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)
DOID:2747	glycogen storage disease Aliases: glycogenosis	GLG1 GPH1 GSY1 GSY2 PFK1 PFK2	850569 850962 853155 853932 855245 856289	Saccharomyces cerevisiae S288C
DOID:14247	chronic purulent otitis media Aliases: chronic suppurative otitis media	CAT	847	Homo sapiens (human)
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	Wdfy3	72145	Mus musculus (house mouse)
DOID:3074	giant cell glioblastoma Aliases: Monstrocellular sarcoma	ABO ACACA ACACB ACAT1 ACE ACOT7 ACSL5 ACSS2 AGXT AKR1B10 AKR1B1 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 B3GAT1 B3GNT5 B4GALNT1 BAAT BCAN BDH2 CALR CANX CAT CBR1 CD109 CD14 CD22 CD248 CD33 CD38 CD44 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS2 CH25H CHAT CHI3L1 CHPT1 CHST15 CHSY1 CLEC18B CLEC5A CMAS CNTN2 CNTN3 CPT1A CPT1C CS CSPG4 CYB5R2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2E1 CYP46A1 DAG1 DBT DCN DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD EBP ECHS1 EFNA2 ELOVL2 ENO1 ENO2 ENPP1 ENPP2 EXTL3 FADS2 FASN FBP1 FDFT1 FDPS FMOD FOLR1 FUT4 G6PC1 GALNT14 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLO1 GLUL GML GOLPH3 GPC1 GPD1 GPI GPNMB GPX3 HACD1 HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5B INPP5K INPPL1 KL KLRC3 KLRK1 L1CAM L2HGDH LDHA LGALS1 LGALS3 LGALS8 LGALS9 LSS MAN2A1 MCAT ME1 ME2 MGAT1 MGAT5 MICA MMP25 MMUT MPG MRC1 MSLN MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NEU1 NEU3 NEU4 NT5E OCRL OGA OLR1 OPCML PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PI4K2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G4A PLAUR PLCB1 PLCG1 PLD2 PLOD3 PLPP1 PLPP3 PNP POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PSAP PTEN PTGDS PTGS1 PTGS2 RECK RTN4R SDC1 SDC2 SDHA SELP SGMS1 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC35F1 SLC37A4 SLC3A1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SUCLG1 SULF1 SULF2 SYNJ1 SYNJ2 THEM4 TIGAR TKT TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 ULBP1 UMOD UNG VCAM1 VNN2 VTCN1	10039 100507436 1012 10135 10159 10232 1040 10457 1048 10682 10724 10825 10855 10858 1087 1103 1116 11181 11332 117145 126129 129807 135228 1374 142 1431 1464 1545 1555 1571 1586 1588 1593 1594 1605 1606 1629 1634 1636 1718 1738 189 1890 1892 1943 2023 2026 2137 218 2194 220 2203 2222 2224 222553 22856 22914 22918 22933 231 23213 23236 2331 2348 23545 23583 23601 240 248 250 2526 2538 2542 2583 259230 2597 2619 2673 27087 27180 2720 27306 27349 2739 2752 2765 28 2817 2819 2821 2878 2923 29956 308 3098 3099 31 310 3161 32 3339 3340 3383 3417 3418 3425 353 3633 3636 378 38 3823 3897 3939 3956 3958 3964 3965 4047 410 412 4124 417 4199 4200 4245 4249 427 4350 4360 4507 4594 4684 4758 4860 4907 4952 497190 4973 4978 501 5048 5067 5130 51363 51548 5167 5168 51700 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5321 5329 5335 5338 54187 54898 55247 55361 5538 5552 55624 5563 55902 55907 55959 5621 5631 5660 56848 56898 56994 570 57016 57103 57124 5728 5730 5742 5743 6382 63827 6383 6389 6403 64083 64386 6480 6489 65078 6515 6519 6646 6900 7086 7108 7167 7357 7358 7360 7369 7374 7412 7903 79623 79679 7991 79944 79947 80270 80329 811 821 8277 84002 8434 847 8505 8525 85365 8560 8611 8613 8658 873 8794 8802 8809 8867 8871 8875 8877 8985 9023 9162 9200 929 933 9365 9415 945 952 960 972	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:4677	keratitis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0110520	autosomal recessive nonsyndromic deafness 7 Aliases: DFNB11 DFNB7 autosomal recessive deafness 7	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:1596	depressive disorder Aliases: mental depression	Gsk3b Htr2a	29595 84027	Rattus norvegicus (Norway rat)
DOID:0050865	tongue squamous cell carcinoma	Adipoq Il1rl1 Slc3a2 Trp53	11450 17082 17254 22059	Mus musculus (house mouse)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	216395	Mus musculus (house mouse)
DOID:9540	vascular skin disease	AGA FUCA1 NEU1 PLAUR PTEN TM7SF2	175 2517 4758 5329 5728 7108	Homo sapiens (human)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	114005 25623 364682 690987	Rattus norvegicus (Norway rat)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)
DOID:10211	cholelithiasis	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 40079 41334 41574 42538 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	Mus musculus (house mouse)
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	13481	Mus musculus (house mouse)
DOID:0060488	Pitt-Hopkins syndrome	PTEN	5728	Homo sapiens (human)

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