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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 |
|---|---|---|---|---|---|
| C0022658 | Kidney Diseases | RGN | 9104 | regucalcin | Q15493 |
| C0699790 | Colon Carcinoma | RGN | 9104 | regucalcin | Q15493 |
| C0917713 | Becker Muscular Dystrophy | RGN | 9104 | regucalcin | Q15493 |
| C0011570 | Mental Depression | RGN | 9104 | regucalcin | Q15493 |
| C0339510 | Vitelliform Macular Dystrophy | RGN | 9104 | regucalcin | Q15493 |
| C0009402 | Colorectal Carcinoma | RGN | 9104 | regucalcin | Q15493 |
| 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 |
| C0013274 | Patent ductus arteriosus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0015310 | Exotropia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0025958 | Microcephaly | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0041960 | Ureterocele | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0027066 | Myoclonus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3714756 | Intellectual Disability | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0016522 | Foramen Ovale, Patent | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0085583 | Choreoathetosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0028738 | Nystagmus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0029124 | Optic Atrophy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0027051 | Myocardial Infarction | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
