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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 ▲ |
|---|---|---|---|---|---|
| C0027651 | Neoplasms | GALNT4 | 8693 | polypeptide N-acetylgalactosaminyltransferase 4 | Q8N4A0 |
| C0742343 | Acute Chest Syndrome | GALNT4 | 8693 | polypeptide N-acetylgalactosaminyltransferase 4 | Q8N4A0 |
| C0009402 | Colorectal Carcinoma | POC1B-GALNT4 | 100528030 | POC1B-GALNT4 readthrough | Q8N4A0 |
| C0041296 | Tuberculosis | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C1847351 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C0005411 | Biliary Atresia | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C2711227 | Steatohepatitis | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C4225190 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C4317295 | Congenital disorder of glycosylation type 1s | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0678222 | Breast Carcinoma | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0006142 | Malignant neoplasm of breast | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0153252 | Systemic candidiasis | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0023895 | Liver diseases | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0015695 | Fatty Liver | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C0007102 | Malignant tumor of colon | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0020538 | Hypertensive disease | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0006826 | Malignant Neoplasms | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C1306459 | Primary malignant neoplasm | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0018802 | Congestive heart failure | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C0007113 | Rectal Carcinoma | CERS5 | 91012 | ceramide synthase 5 | Q8N5B7 |
| C1861172 | Venous Thromboembolism | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1306459 | Primary malignant neoplasm | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C0007570 | Celiac Disease | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C4721610 | Carcinoma, Ovarian Epithelial | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1140680 | Malignant neoplasm of ovary | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
