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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 |
|---|---|---|---|---|---|
| C0270960 | Congenital myopathy (disorder) | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0018378 | Guillain-Barre Syndrome | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0017638 | Glioma | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0020224 | Polyhydramnios | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0032580 | Adenomatous Polyposis Coli | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0026769 | Multiple Sclerosis | CNTN1 | 1272 | contactin 1 | Q12860 |
| 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 |
| C0024623 | Malignant neoplasm of stomach | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0085584 | Encephalopathies | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0009402 | Colorectal Carcinoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0279985 | Childhood Alveolar Soft Part Sarcoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0152205 | Alternating esotropia | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0010964 | Dandy-Walker Syndrome | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1531647 | Cerebral ventriculomegaly | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0036439 | Scoliosis, unspecified | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0027066 | Myoclonus | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
