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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 ▲ |
|---|---|---|---|---|---|
| C0023895 | Liver diseases | GPC3 | 2719 | glypican 3 | P51654 |
| C0700095 | Central neuroblastoma | GPC3 | 2719 | glypican 3 | P51654 |
| C0010278 | Craniosynostosis | GPC3 | 2719 | glypican 3 | P51654 |
| C0020538 | Hypertensive disease | GPC3 | 2719 | glypican 3 | P51654 |
| C3536714 | Renal dysplasia | GPC3 | 2719 | glypican 3 | P51654 |
| C0027651 | Neoplasms | GPC3 | 2719 | glypican 3 | P51654 |
| C0919267 | ovarian neoplasm | GPC3 | 2719 | glypican 3 | P51654 |
| C0018817 | Atrial Septal Defects | GPC3 | 2719 | glypican 3 | P51654 |
| C0153452 | Malignant neoplasm of gallbladder | GPC3 | 2719 | glypican 3 | P51654 |
| C0014145 | Yolk Sac Tumor | GPC3 | 2719 | glypican 3 | P51654 |
| C0003811 | Cardiac Arrhythmia | GPC3 | 2719 | glypican 3 | P51654 |
| C1859133 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0004138 | Ataxias, Hereditary | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282528 | Peroxisomal Disorders | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0023520 | Leukodystrophy | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1527366 | Salaam Seizures | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1384666 | hearing impairment | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0027651 | Neoplasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0162309 | Adrenoleukodystrophy | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0001403 | Addison Disease | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282160 | Aplasia Cutis Congenita | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0007758 | Cerebellar Ataxia | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0008370 | Cholestasis | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0678222 | Breast Carcinoma | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0009081 | Congenital clubfoot | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
