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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 |
|---|---|---|---|---|---|
| C1378703 | Renal carcinoma | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1378703 | Renal carcinoma | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1378703 | Renal carcinoma | FASN | 2194 | fatty acid synthase | P49327 |
| C1378703 | Renal carcinoma | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C1378703 | Renal carcinoma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1378703 | Renal carcinoma | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1378703 | Renal carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1378703 | Renal carcinoma | ME1 | 4199 | malic enzyme 1 | P48163 |
| C1378703 | Renal carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1378703 | Renal carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1378703 | Renal carcinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1378703 | Renal carcinoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C1378703 | Renal carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1378703 | Renal carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1378703 | Renal carcinoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0342788 | Renal carnitine transport defect | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0342788 | Renal carnitine transport defect | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342788 | Renal carnitine transport defect | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0342788 | Renal carnitine transport defect | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0342788 | Renal carnitine transport defect | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0342788 | Renal carnitine transport defect | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0342788 | Renal carnitine transport defect | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0342788 | Renal carnitine transport defect | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0342788 | Renal carnitine transport defect | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0342788 | Renal carnitine transport defect | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
