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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▼ | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
C0000768 | Congenital Abnormality | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
C0220726 | Diastrophic dysplasia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
C0003128 | Anovulation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
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 |
C0007787 | Transient Ischemic Attack | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
C0018939 | Hematological Disease | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
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Last updated: August 19, 2024