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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 |
|---|---|---|---|---|---|
| C0016063 | Osteitis Fibrosa Disseminata | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0029405 | Osteitis Fibrosa Cystica | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029401 | Osteitis Deformans | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0029401 | Osteitis Deformans | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0029401 | Osteitis Deformans | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0029401 | Osteitis Deformans | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0029401 | Osteitis Deformans | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0029401 | Osteitis Deformans | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0029400 | Osteitis | CALR | 811 | calreticulin | P27797 |
| C0029400 | Osteitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1266128 | Ossifying fibromyxoid tumor | ENO2 | 2026 | enolase 2 | P09104 |
| C0206640 | Ossifying Fibroma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0392642 | Oropharyngeal tularemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C2349952 | Oropharyngeal Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2349952 | Oropharyngeal Carcinoma | NEIL2 | 252969 | nei like DNA glycosylase 2 | Q969S2 |
| C2349952 | Oropharyngeal Carcinoma | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C2349952 | Oropharyngeal Carcinoma | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C2349952 | Oropharyngeal Carcinoma | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C2349952 | Oropharyngeal Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2349952 | Oropharyngeal Carcinoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2349952 | Oropharyngeal Carcinoma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C2349952 | Oropharyngeal Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2349952 | Oropharyngeal Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2349952 | Oropharyngeal Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0029294 | Orofaciodigital Syndromes | GYS2 | 2998 | glycogen synthase 2 | P54840 |
