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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 |
|---|---|---|---|---|---|
| C0027819 | Neuroblastoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027819 | Neuroblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0027819 | Neuroblastoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0027819 | Neuroblastoma | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0027819 | Neuroblastoma | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0027819 | Neuroblastoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0027819 | Neuroblastoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C4041080 | Neurocognitive Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4041080 | Neurocognitive Disorders | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C4041080 | Neurocognitive Disorders | CD38 | 952 | CD38 molecule | P28907 |
| C1622510 | Neurocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C2751584 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | 2350 | folate receptor beta | P14207 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0524851 | Neurodegenerative Disorders | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0524851 | Neurodegenerative Disorders | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0524851 | Neurodegenerative Disorders | GALC | 2581 | galactosylceramidase | P54803 |
| C0524851 | Neurodegenerative Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524851 | Neurodegenerative Disorders | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0524851 | Neurodegenerative Disorders | GLB1 | 2720 | galactosidase beta 1 | P16278 |
