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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 |
|---|---|---|---|---|---|
| C0013384 | Dyskinetic syndrome | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0019294 | Hernia, Inguinal | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0018818 | Ventricular Septal Defects | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0013421 | Dystonia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0037769 | West Syndrome | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0021051 | Immunologic Deficiency Syndromes | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0007102 | Malignant tumor of colon | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0020538 | Hypertensive disease | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0006826 | Malignant Neoplasms | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C1306459 | Primary malignant neoplasm | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0018802 | Congestive heart failure | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0007113 | Rectal Carcinoma | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0279672 | Cervical Adenocarcinoma | RGN | 9104 | regucalcin | Q15493 |
| C0019163 | Hepatitis B | RGN | 9104 | regucalcin | Q15493 |
| C0086543 | Cataract | RGN | 9104 | regucalcin | Q15493 |
| C0376358 | Malignant neoplasm of prostate | RGN | 9104 | regucalcin | Q15493 |
| C0235974 | Pancreatic carcinoma | RGN | 9104 | regucalcin | Q15493 |
| C0006826 | Malignant Neoplasms | RGN | 9104 | regucalcin | Q15493 |
| C0020473 | Hyperlipidemia | RGN | 9104 | regucalcin | Q15493 |
| C2239176 | Liver carcinoma | RGN | 9104 | regucalcin | Q15493 |
| C0009319 | Colitis | RGN | 9104 | regucalcin | Q15493 |
| C1306459 | Primary malignant neoplasm | RGN | 9104 | regucalcin | Q15493 |
| C0600139 | Prostate carcinoma | RGN | 9104 | regucalcin | Q15493 |
| C0013238 | Dry Eye Syndromes | RGN | 9104 | regucalcin | Q15493 |
| C0242379 | Malignant neoplasm of lung | RGN | 9104 | regucalcin | Q15493 |
