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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 ▼ |
|---|---|---|---|---|---|
| C0678222 | Breast Carcinoma | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C0006142 | Malignant neoplasm of breast | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C1458155 | Mammary Neoplasms | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C1257931 | Mammary Neoplasms, Human | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C0376358 | Malignant neoplasm of prostate | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0006826 | Malignant Neoplasms | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0007138 | Carcinoma, Transitional Cell | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0026850 | Muscular Dystrophy | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0027051 | Myocardial Infarction | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C1306459 | Primary malignant neoplasm | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0009402 | Colorectal Carcinoma | GALNT15 | 117248 | polypeptide N-acetylgalactosaminyltransferase 15 | Q8N3T1 |
| C0001857 | AIDS related complex | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0036646 | Age-related cataract | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0001973 | Alcoholic Intoxication, Chronic | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C2931822 | Nasopharyngeal carcinoma | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C3495417 | Hemifacial microsomia | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0010068 | Coronary heart disease | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0009402 | Colorectal Carcinoma | PARP8 | 79668 | poly(ADP-ribose) polymerase family member 8 | Q8N3A8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0152136 | Low Tension Glaucoma | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0017601 | Glaucoma | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0013595 | Eczema | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0004096 | Asthma | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C4082305 | Deaf Mutism | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
