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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 ▼ |
|---|---|---|---|---|---|
| C0010278 | Craniosynostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0010068 | Coronary heart disease | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0002736 | Amyotrophic Lateral Sclerosis | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0008489 | Chorea | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0025322 | Premature Menopause | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C1956346 | Coronary Artery Disease | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C2239176 | Liver carcinoma | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0008350 | Cholelithiasis | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0006142 | Malignant neoplasm of breast | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0010054 | Coronary Arteriosclerosis | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0019196 | Hepatitis C | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0009324 | Ulcerative Colitis | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0007134 | Renal Cell Carcinoma | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0000889 | Acanthosis Nigricans | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0085636 | Photophobia | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0013238 | Dry Eye Syndromes | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0162309 | Adrenoleukodystrophy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C1527231 | Adrenomyeloneuropathy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0011603 | Dermatitis | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0027651 | Neoplasms | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0020456 | Hyperglycemia | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0005697 | Neurogenic Urinary Bladder | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0023492 | Leukemia, T-Cell | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0002395 | Alzheimer's Disease | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
