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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 |
|---|---|---|---|---|---|
| C0027765 | nervous system disorder | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0027765 | nervous system disorder | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0027765 | nervous system disorder | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0027765 | nervous system disorder | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0027765 | nervous system disorder | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0027765 | nervous system disorder | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0027765 | nervous system disorder | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027765 | nervous system disorder | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0027765 | nervous system disorder | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0027765 | nervous system disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027765 | nervous system disorder | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027765 | nervous system disorder | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0027765 | nervous system disorder | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0027765 | nervous system disorder | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0027765 | nervous system disorder | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0027830 | neurofibroma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0027830 | neurofibroma | CD38 | 952 | CD38 molecule | P28907 |
| C0027830 | neurofibroma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0027830 | neurofibroma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0027830 | neurofibroma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0027830 | neurofibroma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027830 | neurofibroma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0027830 | neurofibroma | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0028945 | oligodendroglioma | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0028945 | oligodendroglioma | HPSE | 10855 | heparanase | Q9Y251 |
