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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 |
|---|---|---|---|---|---|
| C0008479 | Chondrosarcoma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0008479 | Chondrosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008479 | Chondrosarcoma | SDC2 | 6383 | syndecan 2 | P34741 |
| C0008479 | Chondrosarcoma | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0008479 | Chondrosarcoma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0008479 | Chondrosarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008479 | Chondrosarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008479 | Chondrosarcoma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0008479 | Chondrosarcoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C0008479 | Chondrosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0008479 | Chondrosarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008479 | Chondrosarcoma | SFTPC | 6440 | surfactant protein C | P11686 |
| C0008449 | Congenital anomaly of cartilage | ACAN | 176 | aggrecan | P16112 |
| C0008445 | Chondrodysplasia Punctata | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0008445 | Chondrodysplasia Punctata | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0008445 | Chondrodysplasia Punctata | STS | 412 | steroid sulfatase | P08842 |
| C0008445 | Chondrodysplasia Punctata | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0008445 | Chondrodysplasia Punctata | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0008445 | Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008445 | Chondrodysplasia Punctata | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0008445 | Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008441 | Chondroblastoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008441 | Chondroblastoma | ACAN | 176 | aggrecan | P16112 |
| C0008441 | Chondroblastoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0008441 | Chondroblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
