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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 |
|---|---|---|---|---|---|
| C0238461 | Anaplastic thyroid carcinoma | ULBP2 | 80328 | UL16 binding protein 2 | Q9BZM5 |
| C0035335 | Retinoblastoma | ULBP2 | 80328 | UL16 binding protein 2 | Q9BZM5 |
| C0026764 | Multiple Myeloma | ULBP2 | 80328 | UL16 binding protein 2 | Q9BZM5 |
| C0007847 | Malignant tumor of cervix | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0392525 | Nephrolithiasis | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0022650 | Kidney Calculi | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0279671 | Cervical Squamous Cell Carcinoma | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0302592 | Cervix carcinoma | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0010051 | Coronary Aneurysm | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0019569 | Hirschsprung Disease | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C1843116 | Bile acid synthesis defect, congenital, 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0005779 | Blood Coagulation Disorders | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C2931067 | Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0038238 | Steatorrhea | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008370 | Cholestasis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0024523 | Malabsorption Syndrome | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0011991 | Diarrhea | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0020433 | Hyperbilirubinemia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0030567 | Parkinson Disease | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0023895 | Liver diseases | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0027651 | Neoplasms | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0029456 | Osteoporosis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C1621958 | Glioblastoma Multiforme | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
