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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 **5426 - 5450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080329	cold-induced sweating syndrome 1	CNTFR	1271	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:319	spinal cord disease	ARSB B3GALT6 CD38 CNTN2 CNTN3 ERLEC1 EXT1 GNPTAB HMGCS1 HPRT1 IDUA IL18RAP MINPP1 PTGS2 SLC26A2 SMUG1 TMTC1	126792 1836 2131 23583 27248 3157 3251 3425 411 5067 5743 6900 79158 83857 8807 952 9562	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0080332	bicuspid aortic valve disease Aliases: Familial bicuspid aortic valve	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ABO ACHE B3GALT6 CD14 CNTN5 CNTN6 COMT CSGALNACT2 CYP2B6 ENO2 FH GFRA1 GFRA2 GFRA4 ICAM1 IL1RL2 INPP5E ITPKC L1CAM PGAP2 PGAP3 PGP PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CG PLCB1 PTGES SIGLEC8 SLC2A1	126792 1312 1555 2026 2271 23236 23556 2674 2675 27181 27255 27315 28 283871 284098 3383 3897 43 5277 5294 53942 55454 55650 56623 64096 6513 80271 84720 84992 8808 929 93210 9487 9536	Homo sapiens (human)
DOID:9470	bacterial meningitis	Chi3l1	12654	Mus musculus (house mouse)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	Chi3l1 Tnf	12654 21926	Mus musculus (house mouse)
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	Chi3l1 Tnf Trp53	12654 21926 22059	Mus musculus (house mouse)
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	Chi3l1 Tlr4	12654 21898	Mus musculus (house mouse)
DOID:0080199	colorectal carcinoma	Chi3l1 Mapk14 Mbd4 Pik3ca Trp53	12654 17193 18706 22059 26416	Mus musculus (house mouse)
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	Abo Chi3l1 Il18r1 Tlr2 Tnf	12654 16182 21926 24088 80908	Mus musculus (house mouse)
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Chi3l1 Enpp1 Idh1 Pgf Trp53	12654 15926 18605 18654 22059	Mus musculus (house mouse)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	Chi3l1 Hmgb1 Il1r1 Rbp4	12654 15289 16177 19662	Mus musculus (house mouse)
DOID:9538	multiple myeloma Aliases: myeloma	Chi3l1 Hk1 Tnf Trp53	12654 15275 21926 22059	Mus musculus (house mouse)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	Chi3l1 Gpi1 Idh1 Idh2 Trp53	12654 14751 15926 22059 269951	Mus musculus (house mouse)
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	Chi3l1 Ext1	12654 14042	Mus musculus (house mouse)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Chi3l1 Comt Lep Lepr Ogg1 Pgf Rbp4 Tlr4 Tnf	12654 12846 16846 16847 18294 18654 19662 21898 21926	Mus musculus (house mouse)
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)
DOID:9746	hemorrhoid Aliases: hemorrhoidal disease	ADH1C ALDH2 CYP1A1 ENO1	126 1543 2023 217	Homo sapiens (human)
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ACSBG1 ADH1C ALDH2 ARSA B3GALT4 CAT COMT FH GALC GAPDH GBA1 GLA KL NTM OGG1 PAFAH1B1 PLA2G6 PSAP PTGDS PTGS2 SARM1 SLC17A5 SMPD1 ST3GAL2 VCAM1	126 1312 217 2271 23098 23205 2581 2597 2629 26503 2717 410 4968 5048 50863 5660 5730 5743 6483 6609 7412 8398 847 8705 9365	Homo sapiens (human)

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