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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C1306459 | Primary malignant neoplasm | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C1562113 | Fleck corneal dystrophy | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0006826 | Malignant Neoplasms | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0878544 | Cardiomyopathies | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0026764 | Multiple Myeloma | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0007138 | Carcinoma, Transitional Cell | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0085207 | Gestational Diabetes | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C3714636 | Pneumonitis | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0002395 | Alzheimer's Disease | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0079731 | B-Cell Lymphomas | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0023240 | Legionellosis | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0085636 | Photophobia | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0006142 | Malignant neoplasm of breast | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0156147 | Crohn's disease of large bowel | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0015469 | Facial paralysis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0016202 | Flatfoot | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C4015596 | MYASTHENIC SYNDROME, CONGENITAL, 15 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0520947 | Clumsiness - motor delay | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0005745 | Blepharoptosis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0036857 | Severe intellectual disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
