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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0004114 | Astrocytoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1565489 | Renal Insufficiency | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0024141 | Lupus Erythematosus, Systemic | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1384583 | Congenital absence of germinal epithelium of testes | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0006826 | Malignant Neoplasms | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1306459 | Primary malignant neoplasm | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0028960 | Oligospermia | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0600139 | Prostate carcinoma | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0376358 | Malignant neoplasm of prostate | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0007222 | Cardiovascular Diseases | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796059 | Oculopalatoskeletal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0026769 | Multiple Sclerosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0024141 | Lupus Erythematosus, Systemic | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0003864 | Arthritis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0012739 | Disseminated Intravascular Coagulation | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796279 | Carnevale syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0409974 | Lupus Erythematosus | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0007847 | Malignant tumor of cervix | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C4048328 | cervical cancer | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0000768 | Congenital Abnormality | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0017601 | Glaucoma | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
