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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 |
|---|---|---|---|---|---|
| C1533568 | fertility disorders | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1533568 | fertility disorders | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0016978 | gallbladder neoplasm | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0016978 | gallbladder neoplasm | ARSA | 410 | arylsulfatase A | P15289 |
| C0016978 | gallbladder neoplasm | PSAP | 5660 | prosaposin | P07602 |
| C0016978 | gallbladder neoplasm | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0016978 | gallbladder neoplasm | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0016978 | gallbladder neoplasm | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0016978 | gallbladder neoplasm | CDH13 | 1012 | cadherin 13 | P55290 |
| C0016978 | gallbladder neoplasm | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0018854 | gamma-Chain Disease | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0268524 | gamma-Glutamyltransferase deficiency | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0268524 | gamma-Glutamyltransferase deficiency | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0206726 | gliosarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0206726 | gliosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0206726 | gliosarcoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0206726 | gliosarcoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0206726 | gliosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206726 | gliosarcoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0206726 | gliosarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206726 | gliosarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206726 | gliosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0206726 | gliosarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018206 | granulosa cell tumor | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0018206 | granulosa cell tumor | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
