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 |
---|---|---|---|---|---|
C0004114 | Astrocytoma | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C0149925 | Small cell carcinoma of lung | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C1514422 | Glioblastoma, IDH-Wildtype | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C0017636 | Glioblastoma | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C0025202 | melanoma | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C1458155 | Mammary Neoplasms | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
C0024530 | Malaria | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0029459 | Osteoporosis, Senile | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0751406 | Post-Traumatic Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0006142 | Malignant neoplasm of breast | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C3642345 | Luminal A Breast Carcinoma | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0001787 | Osteoporosis, Age-Related | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0029456 | Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0678222 | Breast Carcinoma | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0175694 | Smith-Lemli-Opitz Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0036439 | Scoliosis, unspecified | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C3696376 | 3-Methylglutaconic Aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0026650 | Movement Disorders | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0239946 | Fibrosis, Liver | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C2717836 | Steroid Sulfatase Deficiency Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0000768 | Congenital Abnormality | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0398739 | Congenital disorder of glycosylation, type 2C | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0017601 | Glaucoma | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
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Last updated: August 19, 2024