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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 | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0684276 | Hypsarrhythmia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0037769 | West Syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3536714 | Renal dysplasia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3714756 | Intellectual Disability | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0008925 | Cleft Palate | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013421 | Dystonia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0018818 | Ventricular Septal Defects | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0027066 | Myoclonus | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0149782 | Squamous cell carcinoma of lung | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C0020179 | Huntington Disease | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C0677886 | Epithelial ovarian cancer | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C0006142 | Malignant neoplasm of breast | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C4721610 | Carcinoma, Ovarian Epithelial | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C1269683 | Major Depressive Disorder | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C0017636 | Glioblastoma | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0027651 | Neoplasms | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0002878 | Anemia, Hemolytic | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0025517 | Metabolic Diseases | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0003850 | Arteriosclerosis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0699791 | Stomach Carcinoma | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C1510586 | Autism Spectrum Disorders | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0002395 | Alzheimer's Disease | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0027765 | nervous system disorder | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
