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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 |
|---|---|---|---|---|---|
| C1704356 | Enchondroma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1704356 | Enchondroma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1704356 | Enchondroma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1704356 | Enchondroma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1704356 | Enchondroma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1704356 | Enchondroma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1704356 | Enchondroma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1704328 | Osteoblastic Osteosarcoma | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1704327 | Bone Sarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704327 | Bone Sarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1704327 | Bone Sarcoma | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C1704321 | Nephrotic Syndrome, Minimal Change | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1704321 | Nephrotic Syndrome, Minimal Change | OGA | 10724 | O-GlcNAcase | O60502 |
| C1704321 | Nephrotic Syndrome, Minimal Change | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1704321 | Nephrotic Syndrome, Minimal Change | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1704321 | Nephrotic Syndrome, Minimal Change | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1704274 | Intrauterine adhesions | SDC1 | 6382 | syndecan 1 | P18827 |
| C1704273 | Endometrial Polyp | SDC1 | 6382 | syndecan 1 | P18827 |
| C1704273 | Endometrial Polyp | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1704273 | Endometrial Polyp | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1704272 | Benign Prostatic Hyperplasia | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1704272 | Benign Prostatic Hyperplasia | HPSE | 10855 | heparanase | Q9Y251 |
| C1704272 | Benign Prostatic Hyperplasia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1704272 | Benign Prostatic Hyperplasia | KLB | 152831 | klotho beta | Q86Z14 |
| C1704272 | Benign Prostatic Hyperplasia | ENO2 | 2026 | enolase 2 | P09104 |
