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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 |
|---|---|---|---|---|---|
| C0027726 | Nephrotic Syndrome | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0027726 | Nephrotic Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0027726 | Nephrotic Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027726 | Nephrotic Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0027726 | Nephrotic Syndrome | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027726 | Nephrotic Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0027726 | Nephrotic Syndrome | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0027726 | Nephrotic Syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
| C2902887 | Nephrotic syndrome with focal and segmental hyalinosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2902888 | Nephrotic syndrome with focal and segmental sclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2902889 | Nephrotic syndrome with focal glomerulonephritis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0451720 | Nephrotic syndrome, focal and segmental glomerular lesions | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0206727 | Nerve Sheath Tumors | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0206727 | Nerve Sheath Tumors | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027743 | Nerve compression syndrome | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0027766 | Nervous System Neoplasms | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0027766 | Nervous System Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0027766 | Nervous System Neoplasms | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0027766 | Nervous System Neoplasms | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0027766 | Nervous System Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
