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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 ▲ |
|---|---|---|---|---|---|
| C0003486 | Aortic Aneurysm | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0018801 | Heart failure | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0019270 | Hernia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0011649 | Dermoid Cyst | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0018802 | Congestive heart failure | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0029124 | Optic Atrophy | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0678222 | Breast Carcinoma | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| 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 |
| C4014343 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0079541 | Holoprosencephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013421 | Dystonia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0085584 | Encephalopathies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0008489 | Chorea | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0036857 | Severe intellectual disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C3714756 | Intellectual Disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0025958 | Microcephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0234533 | Generalized seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1292769 | Precursor B-cell lymphoblastic leukemia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0520947 | Clumsiness - motor delay | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013336 | Dwarfism | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0235946 | Cerebral atrophy | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
