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 |
---|---|---|---|---|---|
C0279988 | Childhood Angiosarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0279988 | Childhood Angiosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | CD38 | 952 | CD38 molecule | P28907 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | SLC2A5 | 6518 | solute carrier family 2 member 5 | P22732 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | CD22 | 933 | CD22 molecule | P20273 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | FCN2 | 2220 | ficolin 2 | Q15485 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0279584 | Childhood B Acute Lymphoblastic Leukemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C1851584 | Childhood Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C1851584 | Childhood Ependymoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
C1851584 | Childhood Ependymoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1851584 | Childhood Ependymoma | CALR | 811 | calreticulin | P27797 |
C1851584 | Childhood Ependymoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C1851584 | Childhood Ependymoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
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Last updated: August 19, 2024