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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 |
|---|---|---|---|---|---|
| C1704273 | Endometrial Polyp | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1704274 | Intrauterine adhesions | SDC1 | 6382 | syndecan 1 | P18827 |
| 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 |
| 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 |
| C1704328 | Osteoblastic Osteosarcoma | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1704356 | Enchondroma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| 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 |
| C1704374 | Carcinoma of Endocrine Gland | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1704374 | Carcinoma of Endocrine Gland | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1704374 | Carcinoma of Endocrine Gland | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1704376 | Uterine Corpus Carcinosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1704376 | Uterine Corpus Carcinosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1704376 | Uterine Corpus Carcinosarcoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
