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 |
---|---|---|---|---|---|
C0575158 | Kyphoscoliosis deformity of spine | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0007786 | Brain Ischemia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C3887499 | Renal cyst | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0031046 | Pericarditis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0010964 | Dandy-Walker Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C1956257 | Pulmonary Stenosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0031117 | Peripheral Neuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0003469 | Anxiety Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0024236 | Lymphedema | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0002395 | Alzheimer's Disease | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0015695 | Fatty Liver | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C4317224 | Congenital disorder of glycosylation type 1q | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0010417 | Cryptorchidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0025517 | Metabolic Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0036341 | Schizophrenia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0020676 | Hypothyroidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0027726 | Nephrotic Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0018802 | Congestive heart failure | CNTN5 | 53942 | contactin 5 | O94779 |
C0019569 | Hirschsprung Disease | CNTN5 | 53942 | contactin 5 | O94779 |
C0003125 | Anorexia Nervosa | CNTN5 | 53942 | contactin 5 | O94779 |
C0003868 | Arthritis, Gouty | CNTN5 | 53942 | contactin 5 | O94779 |
C0005586 | Bipolar Disorder | CNTN5 | 53942 | contactin 5 | O94779 |
C0036341 | Schizophrenia | CNTN5 | 53942 | contactin 5 | O94779 |
C1510586 | Autism Spectrum Disorders | CNTN5 | 53942 | contactin 5 | O94779 |
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Last updated: August 19, 2024