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 ▼ |
---|---|---|---|---|---|
C2239176 | Liver carcinoma | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C0585442 | Osteosarcoma of bone | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C3714636 | Pneumonitis | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C1306459 | Primary malignant neoplasm | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C0004153 | Atherosclerosis | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C1332986 | Childhood Osteosarcoma | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C0018802 | Congestive heart failure | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
C0006826 | Malignant Neoplasms | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C1621958 | Glioblastoma Multiforme | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0038356 | Stomach Neoplasms | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0017636 | Glioblastoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0015934 | Fetal Growth Retardation | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C1306459 | Primary malignant neoplasm | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0023452 | Childhood Acute Lymphoblastic Leukemia | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0278878 | Adult Glioblastoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0006142 | Malignant neoplasm of breast | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0585442 | Osteosarcoma of bone | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0025202 | melanoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0029463 | Osteosarcoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
C0026850 | Muscular Dystrophy | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C0241005 | Creatine phosphokinase serum increased | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C0018916 | Hemangioma | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
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Last updated: August 19, 2024