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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 |
|---|---|---|---|---|---|
| C1851100 | LAURIN-SANDROW SYNDROME | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0020445 | Hypercholesterolemia, Familial | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0745103 | Hyperlipoproteinemia Type IIa | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0011581 | Depressive disorder | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0002418 | Amblyopia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1527231 | Adrenomyeloneuropathy | MBOAT2 | 129642 | membrane bound O-acyltransferase domain containing 2 | Q6ZWT7 |
| C0027651 | Neoplasms | LYG1 | 129530 | lysozyme g1 | Q8N1E2 |
| C0025202 | melanoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0005684 | Malignant neoplasm of urinary bladder | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1306459 | Primary malignant neoplasm | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0009404 | Colorectal Neoplasms | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0007133 | Carcinoma, Papillary | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1337013 | Differentiated Thyroid Gland Carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2239176 | Liver carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0007097 | Carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0027651 | Neoplasms | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0151779 | Cutaneous Melanoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0005695 | Bladder Neoplasm | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3714756 | Intellectual Disability | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0699885 | Carcinoma of bladder | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0007102 | Malignant tumor of colon | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0036439 | Scoliosis, unspecified | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1319315 | Adenocarcinoma of large intestine | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
