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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 |
|---|---|---|---|---|---|
| C0279070 | Adult Oligodendroglioma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0279070 | Adult Oligodendroglioma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0279070 | Adult Oligodendroglioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0279070 | Adult Oligodendroglioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0279070 | Adult Oligodendroglioma | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0279070 | Adult Oligodendroglioma | CNTN2 | 6900 | contactin 2 | Q02246 |
| C3887650 | Adult Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887650 | Adult Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887650 | Adult Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3887650 | Adult Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3887650 | Adult Rickets | RGN | 9104 | regucalcin | Q15493 |
| C3887650 | Adult Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3887650 | Adult Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0751489 | Adult Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0751489 | Adult Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | ARSA | 410 | arylsulfatase A | P15289 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | CD33 | 945 | CD33 molecule | P20138 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0279592 | Adult T Acute Lymphoblastic Leukemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
