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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 |
|---|---|---|---|---|---|
| C0346647 | Malignant neoplasm of pancreas | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0021670 | insulinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0009402 | Colorectal Carcinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027962 | Melanocytic nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0018798 | Congenital Heart Defects | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0235974 | Pancreatic carcinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0343641 | Human papilloma virus infection | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0006826 | Malignant Neoplasms | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C1306459 | Primary malignant neoplasm | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0025958 | Microcephaly | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0027651 | Neoplasms | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C1306459 | Primary malignant neoplasm | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0154060 | Carcinoma in situ of stomach | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0006826 | Malignant Neoplasms | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0007847 | Malignant tumor of cervix | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0027651 | Neoplasms | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0699791 | Stomach Carcinoma | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C1969655 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C1134719 | Invasive Ductal Breast Carcinoma | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0006142 | Malignant neoplasm of breast | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0678222 | Breast Carcinoma | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| C0034494 | Rabies (disorder) | PIP5K1C | 23396 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | O60331 |
| 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 |
