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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 ▲ |
|---|---|---|---|---|---|
| C0221356 | Brachycephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0520679 | Sleep Apnea, Obstructive | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0031117 | Peripheral Neuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0025958 | Microcephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0002736 | Amyotrophic Lateral Sclerosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0003028 | Anhidrosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0024623 | Malignant neoplasm of stomach | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0398625 | Protein C Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0699790 | Colon Carcinoma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1458155 | Mammary Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0007102 | Malignant tumor of colon | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006142 | Malignant neoplasm of breast | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006826 | Malignant Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0017638 | Glioma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1306459 | Primary malignant neoplasm | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0027651 | Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C0027651 | Neoplasms | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C0006142 | Malignant neoplasm of breast | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C0006142 | Malignant neoplasm of breast | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0014859 | Esophageal Neoplasms | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0206682 | Follicular thyroid carcinoma | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0002170 | Alopecia | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0011615 | Dermatitis, Atopic | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0086873 | Pseudopelade | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
