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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 |
|---|---|---|---|---|---|
| C0241005 | Creatine phosphokinase serum increased | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0026848 | Myopathy | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| 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 |
| C2931007 | Congenital disorder of glycosylation type 1X | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C3714756 | Intellectual Disability | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0041228 | African Trypanosomiasis | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0036572 | Seizures | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0282577 | Congenital Disorders of Glycosylation | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0015934 | Fetal Growth Retardation | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0025958 | Microcephaly | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0010417 | Cryptorchidism | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
