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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 |
|---|---|---|---|---|---|
| C2718092 | Acrospiroma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0267026 | Actinic cheilitis | CALR | 811 | calreticulin | P27797 |
| C0267026 | Actinic cheilitis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0267026 | Actinic cheilitis | ACAN | 176 | aggrecan | P16112 |
| C0267026 | Actinic cheilitis | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0267026 | Actinic cheilitis | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0267026 | Actinic cheilitis | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0022602 | Actinic keratosis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0022602 | Actinic keratosis | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0022602 | Actinic keratosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0022602 | Actinic keratosis | HK2 | 3099 | hexokinase 2 | P52789 |
| C0022602 | Actinic keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022602 | Actinic keratosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0022602 | Actinic keratosis | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
| C0022602 | Actinic keratosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022602 | Actinic keratosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0001261 | Actinomycosis | CAT | 847 | catalase | P04040 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C2349195 | Acute Anterior Wall Myocardial Infarction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0023437 | Acute Basophilic Leukemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
