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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 |
|---|---|---|---|---|---|
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| 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 |
| 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 |
| C0027868 | Neuromuscular Diseases | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0027868 | Neuromuscular Diseases | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027868 | Neuromuscular Diseases | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0027868 | Neuromuscular Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027868 | Neuromuscular Diseases | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0027868 | Neuromuscular Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0027868 | Neuromuscular Diseases | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0027868 | Neuromuscular Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
