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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 ▼ |
|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0086132 | Depressive Symptoms | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0684249 | Carcinoma of lung | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0699790 | Colon Carcinoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0431399 | Familial aplasia of the vermis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0007102 | Malignant tumor of colon | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0026850 | Muscular Dystrophy | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0002736 | Amyotrophic Lateral Sclerosis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0278878 | Adult Glioblastoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0017636 | Glioblastoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0016719 | Friedreich Ataxia | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0011847 | Diabetes | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0006826 | Malignant Neoplasms | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C1306459 | Primary malignant neoplasm | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0004096 | Asthma | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0235974 | Pancreatic carcinoma | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C1561643 | Chronic Kidney Diseases | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C1856689 | FRIEDREICH ATAXIA 1 | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0022661 | Kidney Failure, Chronic | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0029456 | Osteoporosis | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0346647 | Malignant neoplasm of pancreas | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0011849 | Diabetes Mellitus | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0376358 | Malignant neoplasm of prostate | CLGN | 1047 | calmegin | O14967 |
| C0036631 | Seminoma | CLGN | 1047 | calmegin | O14967 |
| C0600139 | Prostate carcinoma | CLGN | 1047 | calmegin | O14967 |
