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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 |
|---|---|---|---|---|---|
| C0017924 | Glycogen Storage Disease Type V | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0013336 | Dwarfism | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0029438 | Massive Osteolyses | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017922 | Glycogen Storage Disease Type III | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0155626 | Acute myocardial infarction | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0151744 | Myocardial Ischemia | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C1306459 | Primary malignant neoplasm | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0007131 | Non-Small Cell Lung Carcinoma | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0006142 | Malignant neoplasm of breast | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0220636 | Malignant neoplasm of salivary gland | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0006826 | Malignant Neoplasms | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C0010606 | Adenoid Cystic Carcinoma | PYGB | 5834 | glycogen phosphorylase B | P11216 |
| C1306459 | Primary malignant neoplasm | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0235946 | Cerebral atrophy | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0006826 | Malignant Neoplasms | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0037773 | Spastic Paraplegia, Hereditary | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0027651 | Neoplasms | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
| C0011847 | Diabetes | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0524620 | Metabolic Syndrome X | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0011849 | Diabetes Mellitus | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0006142 | Malignant neoplasm of breast | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0020456 | Hyperglycemia | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
