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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 |
|---|---|---|---|---|---|
| C1145628 | Autonomic nervous system disorders | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1145628 | Autonomic nervous system disorders | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C1145628 | Autonomic nervous system disorders | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1145628 | Autonomic nervous system disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1145628 | Autonomic nervous system disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0259749 | Autonomic neuropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0259749 | Autonomic neuropathy | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0259749 | Autonomic neuropathy | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0259749 | Autonomic neuropathy | PRNP | 5621 | prion protein | P04156 |
| C0259749 | Autonomic neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0259749 | Autonomic neuropathy | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C3661525 | Autosomal Recessive Chronic Granulomatous Disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | CYP4A22 | 284541 | cytochrome P450 family 4 subfamily A member 22 | Q5TCH4 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | UMOD | 7369 | uromodulin | P07911 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | KLB | 152831 | klotho beta | Q86Z14 |
