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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 |
|---|---|---|---|---|---|
| C0544755 | Genu varum | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0032460 | Polycystic Ovary Syndrome | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0025362 | Mental Retardation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0432228 | Brachyolmia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0029408 | Degenerative polyarthritis | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C3714756 | Intellectual Disability | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C2748516 | Spondylodysplasia And Premature Pubarche | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0019572 | Hirsutism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0029422 | Osteochondrodysplasias | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0702166 | Acne | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0575158 | Kyphoscoliosis deformity of spine | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0409959 | Osteoarthritis, Knee | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0206081 | Hyperandrogenism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0006826 | Malignant Neoplasms | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C2239176 | Liver carcinoma | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0007131 | Non-Small Cell Lung Carcinoma | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C1306459 | Primary malignant neoplasm | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0019163 | Hepatitis B | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0027651 | Neoplasms | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0000768 | Congenital Abnormality | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0376358 | Malignant neoplasm of prostate | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0206667 | Adrenal Cortical Adenoma | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0025286 | Meningioma | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1368898 | Adult Teratoma | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
