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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0751955 | Brain Infarction | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0751955 | Brain Infarction | CAT | 847 | catalase | P04040 |
| C0751955 | Brain Infarction | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C0751955 | Brain Infarction | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0751951 | Central Core Myopathy (disorder) | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0751951 | Central Core Myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0751951 | Central Core Myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0751951 | Central Core Myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0751951 | Central Core Myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0751951 | Central Core Myopathy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751951 | Central Core Myopathy (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751951 | Central Core Myopathy (disorder) | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751951 | Central Core Myopathy (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0751950 | Neuromuscular Junction Diseases | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751950 | Neuromuscular Junction Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751950 | Neuromuscular Junction Diseases | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | AGRN | 375790 | agrin | O00468 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
