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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 |
|---|---|---|---|---|---|
| C0162565 | Acute intermittent porphyria | ENO1 | 2023 | enolase 1 | P06733 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | ENO1 | 2023 | enolase 1 | P06733 |
| C0205698 | Undifferentiated carcinoma | ENO1 | 2023 | enolase 1 | P06733 |
| C0021390 | Inflammatory Bowel Diseases | ENO1 | 2023 | enolase 1 | P06733 |
| C0014859 | Esophageal Neoplasms | ENO1 | 2023 | enolase 1 | P06733 |
| C0276496 | Familial Alzheimer Disease (FAD) | ENO1 | 2023 | enolase 1 | P06733 |
| C0278701 | Gastric Adenocarcinoma | ENO1 | 2023 | enolase 1 | P06733 |
| C0024121 | Lung Neoplasms | ENO1 | 2023 | enolase 1 | P06733 |
| C0025202 | melanoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0376358 | Malignant neoplasm of prostate | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0600139 | Prostate carcinoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0004096 | Asthma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0027651 | Neoplasms | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0013274 | Patent ductus arteriosus | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0026764 | Multiple Myeloma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| 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 |
| C0040034 | Thrombocytopenia | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0011311 | Dengue Fever | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
