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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 |
|---|---|---|---|---|---|
| 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 |
| C0008449 | Congenital anomaly of cartilage | ACAN | 176 | aggrecan | P16112 |
| C0008479 | Chondrosarcoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008479 | Chondrosarcoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0008479 | Chondrosarcoma | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0008479 | Chondrosarcoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0008479 | Chondrosarcoma | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0008479 | Chondrosarcoma | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0008479 | Chondrosarcoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0008479 | Chondrosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008479 | Chondrosarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0008479 | Chondrosarcoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0008479 | Chondrosarcoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0008479 | Chondrosarcoma | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0008479 | Chondrosarcoma | VCAN | 1462 | versican | P13611 |
| C0008479 | Chondrosarcoma | DCN | 1634 | decorin | P07585 |
| C0008479 | Chondrosarcoma | ACAN | 176 | aggrecan | P16112 |
| C0008479 | Chondrosarcoma | ANXA5 | 308 | annexin A5 | P08758 |
| C0008479 | Chondrosarcoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008479 | Chondrosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0008479 | Chondrosarcoma | PRNP | 5621 | prion protein | P04156 |
