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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 |
|---|---|---|---|---|---|
| C0751295 | Memory Loss | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0751295 | Memory Loss | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0751295 | Memory Loss | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0751295 | Memory Loss | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751295 | Memory Loss | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0751303 | Cerebral Convexity Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751304 | Parasagittal Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751336 | Distal Muscular Dystrophies | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0751336 | Distal Muscular Dystrophies | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0751340 | Myasthenia Gravis, Ocular | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751356 | Idiopathic Inflammatory Myopathies | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0751356 | Idiopathic Inflammatory Myopathies | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751356 | Idiopathic Inflammatory Myopathies | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0751356 | Idiopathic Inflammatory Myopathies | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0751356 | Idiopathic Inflammatory Myopathies | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0751356 | Idiopathic Inflammatory Myopathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751364 | Cancer, Embryonal | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | ACLY | 47 | ATP citrate lyase | P53396 |
