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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 |
|---|---|---|---|---|---|
| C0751689 | Peripheral Nerve Sheath Neoplasm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CD38 | 952 | CD38 molecule | P28907 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | DCN | 1634 | decorin | P07585 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | LGALS1 | 3956 | galectin 1 | P09382 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751690 | Malignant Peripheral Nerve Sheath Tumor | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751713 | Inclusion Body Myopathy, Sporadic | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0751713 | Inclusion Body Myopathy, Sporadic | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0751713 | Inclusion Body Myopathy, Sporadic | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0751713 | Inclusion Body Myopathy, Sporadic | PRNP | 5621 | prion protein | P04156 |
