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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 |
|---|---|---|---|---|---|
| C0442874 | Neuropathy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0442874 | Neuropathy | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0442874 | Neuropathy | RGN | 9104 | regucalcin | Q15493 |
| C0442874 | Neuropathy | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0442874 | Neuropathy | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0442874 | Neuropathy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0442874 | Neuropathy | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0442874 | Neuropathy | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0442874 | Neuropathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0442874 | Neuropathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0442874 | Neuropathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0442874 | Neuropathy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0442874 | Neuropathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0442874 | Neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0442874 | Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0442874 | Neuropathy | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0442874 | Neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| 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 |
