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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 |
|---|---|---|---|---|---|
| C4721453 | Peripheral Nervous System Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4721453 | Peripheral Nervous System Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C4721453 | Peripheral Nervous System Diseases | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4721453 | Peripheral Nervous System Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4721453 | Peripheral Nervous System Diseases | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C4721453 | Peripheral Nervous System Diseases | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C4721453 | Peripheral Nervous System Diseases | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4721505 | Sarcoma, Myeloid | LYZ | 4069 | lysozyme | P61626 |
| C4721505 | Sarcoma, Myeloid | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C4721508 | Hamman-Rich Disease | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721508 | Hamman-Rich Disease | SFTPC | 6440 | surfactant protein C | P11686 |
| C4721509 | Usual Interstitial Pneumonia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C4721509 | Usual Interstitial Pneumonia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C4721509 | Usual Interstitial Pneumonia | DCN | 1634 | decorin | P07585 |
| C4721509 | Usual Interstitial Pneumonia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721509 | Usual Interstitial Pneumonia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C4721509 | Usual Interstitial Pneumonia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C4721509 | Usual Interstitial Pneumonia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4721509 | Usual Interstitial Pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C4721531 | HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | GBA | 2629 | glucosylceramidase beta | P04062 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
