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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 |
|---|---|---|---|---|---|
| C0027868 | Neuromuscular Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| 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 |
| C0027873 | Neuromyelitis Optica | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0027873 | Neuromyelitis Optica | SDC1 | 6382 | syndecan 1 | P18827 |
| C0027873 | Neuromyelitis Optica | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0027873 | Neuromyelitis Optica | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0027873 | Neuromyelitis Optica | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0027873 | Neuromyelitis Optica | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0027873 | Neuromyelitis Optica | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0027873 | Neuromyelitis Optica | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0027873 | Neuromyelitis Optica | GPC5 | 2262 | glypican 5 | P78333 |
| C0027873 | Neuromyelitis Optica | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027873 | Neuromyelitis Optica | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0027873 | Neuromyelitis Optica | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027873 | Neuromyelitis Optica | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PSAP | 5660 | prosaposin | P07602 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | LGALS1 | 3956 | galectin 1 | P09382 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PPT2 | 9374 | palmitoyl-protein thioesterase 2 | Q9UMR5 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
