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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 | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0684276 | Hypsarrhythmia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0854723 | Retinal Dystrophies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0751495 | Seizures, Focal | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0038273 | Stereotypic Movement Disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0011581 | Depressive disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0282577 | Congenital Disorders of Glycosylation | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0235974 | Pancreatic carcinoma | CHSY3 | 337876 | chondroitin sulfate synthase 3 | Q70JA7 |
| C0009402 | Colorectal Carcinoma | CHSY3 | 337876 | chondroitin sulfate synthase 3 | Q70JA7 |
| C0006142 | Malignant neoplasm of breast | CHSY3 | 337876 | chondroitin sulfate synthase 3 | Q70JA7 |
| C0017638 | Glioma | CHSY3 | 337876 | chondroitin sulfate synthase 3 | Q70JA7 |
| C1531647 | Cerebral ventriculomegaly | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0027947 | Neutropenia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0036572 | Seizures | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0027092 | Myopia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0266483 | Pachygyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C3714756 | Intellectual Disability | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0014544 | Epilepsy | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0003504 | Aortic Valve Insufficiency | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0023530 | Leukopenia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1332206 | Adult Lymphoma | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0027051 | Myocardial Infarction | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0266463 | Lissencephaly | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0751495 | Seizures, Focal | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
