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 ▼ |
---|---|---|---|---|---|
C0025958 | Microcephaly | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0011847 | Diabetes | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0751495 | Seizures, Focal | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0684276 | Hypsarrhythmia | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0023895 | Liver diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0020255 | Hydrocephalus | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C1561643 | Chronic Kidney Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0520947 | Clumsiness - motor delay | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0023896 | Alcoholic Liver Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0038273 | Stereotypic Movement Disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0007222 | Cardiovascular Diseases | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0036857 | Severe intellectual disability | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0028754 | Obesity | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0024623 | Malignant neoplasm of stomach | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C0011581 | Depressive disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0009081 | Congenital clubfoot | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C1970021 | Congenital Disorder Of Glycosylation, Type IIH | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0282577 | Congenital Disorders of Glycosylation | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0033680 | Protein-Losing Enteropathies | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0279544 | Adult Alveolar Soft Part Sarcoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0241005 | Creatine phosphokinase serum increased | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0020615 | Hypoglycemia | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0036572 | Seizures | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
C0242379 | Malignant neoplasm of lung | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
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Last updated: August 19, 2024