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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 |
|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0678222 | Breast Carcinoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C4721453 | Peripheral Nervous System Diseases | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0400966 | Non-alcoholic Fatty Liver Disease | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020615 | Hypoglycemia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0238463 | Papillary thyroid carcinoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0025202 | melanoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0278878 | Adult Glioblastoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1621958 | Glioblastoma Multiforme | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0028754 | Obesity | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0026764 | Multiple Myeloma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0004364 | Autoimmune Diseases | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020676 | Hypothyroidism | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0037926 | Compression of spinal cord | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013720 | Ehlers-Danlos Syndrome | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3809210 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0030486 | Paraplegia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009782 | Connective Tissue Diseases | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0026266 | Mitral Valve Insufficiency | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018817 | Atrial Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C1442903 | Exostoses | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009081 | Congenital clubfoot | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3714756 | Intellectual Disability | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
