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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 |
| C0025202 | melanoma | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C0020474 | Hyperlipidemia, Familial Combined | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
| C3887645 | Job Syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0029422 | Osteochondrodysplasias | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0021051 | Immunologic Deficiency Syndromes | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0036572 | Seizures | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0013595 | Eczema | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C2936739 | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0085110 | Severe Combined Immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0024299 | Lymphoma | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
