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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 |
|---|---|---|---|---|---|
| C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0013336 | Dwarfism | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028738 | Nystagmus | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0040034 | Thrombocytopenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028077 | Nyctalopia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0035334 | Retinitis Pigmentosa | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235991 | Small for gestational age (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015934 | Fetal Growth Retardation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0009081 | Congenital clubfoot | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0264611 | Apraxia of Phonation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015300 | Exophthalmos | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235946 | Cerebral atrophy | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0005779 | Blood Coagulation Disorders | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0027947 | Neutropenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0025958 | Microcephaly | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3888417 | CATARACT 5, MULTIPLE TYPES | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0086543 | Cataract | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0520947 | Clumsiness - motor delay | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0600139 | Prostate carcinoma | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0037369 | Smoking | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
