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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 |
|---|---|---|---|---|---|
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0006142 | Malignant neoplasm of breast | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0376358 | Malignant neoplasm of prostate | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0035334 | Retinitis Pigmentosa | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0265343 | Jarcho-Levin syndrome | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036572 | Seizures | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036439 | Scoliosis, unspecified | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C3714756 | Intellectual Disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0025958 | Microcephaly | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0000768 | Congenital Abnormality | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0085136 | Central Nervous System Neoplasms | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0004352 | Autistic Disorder | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0029422 | Osteochondrodysplasias | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C1510586 | Autism Spectrum Disorders | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0017638 | Glioma | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036857 | Severe intellectual disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0014544 | Epilepsy | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0151468 | Thyroid Gland Follicular Adenoma | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0700095 | Central neuroblastoma | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0027819 | Neuroblastoma | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C1333015 | Childhood Kidney Wilms Tumor | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0023467 | Leukemia, Myelocytic, Acute | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0019196 | Hepatitis C | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0040137 | Thyroid Nodule | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
