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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 |
|---|---|---|---|---|---|
| C0025202 | melanoma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C1621958 | Glioblastoma Multiforme | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0008728 | Eosinophilic granulomatosis with polyangiitis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C1168401 | Squamous cell carcinoma of the head and neck | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0041296 | Tuberculosis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0017636 | Glioblastoma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0035067 | Renal Artery Stenosis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0030421 | Paraganglioma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0239946 | Fibrosis, Liver | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0268626 | Juvenile nephropathic cystinosis (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931013 | Cystinosis, benign, nonnephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085078 | Lysosomal Storage Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0030567 | Parkinson Disease | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0341703 | Adult Fanconi syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1565489 | Renal Insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0022658 | Kidney Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035309 | Retinal Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0021364 | Male infertility | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020619 | Hypogonadism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
