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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 ▲ |
|---|---|---|---|---|---|
| C0031117 | Peripheral Neuropathy | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| 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 |
| 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 |
