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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0279988 | Childhood Angiosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0279988 | Childhood Angiosarcoma | CHGA | 1113 | chromogranin A | P10645 |
| C0279988 | Childhood Angiosarcoma | DCN | 1634 | decorin | P07585 |
| C0279988 | Childhood Angiosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0279988 | Childhood Angiosarcoma | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0279988 | Childhood Angiosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0279988 | Childhood Angiosarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| 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 |
