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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 |
|---|---|---|---|---|---|
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0011570 | Mental Depression | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0024894 | Mastitis | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0027651 | Neoplasms | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0009319 | Colitis | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0011581 | Depressive disorder | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0007131 | Non-Small Cell Lung Carcinoma | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0242379 | Malignant neoplasm of lung | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C1176475 | Ductal Carcinoma | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0684249 | Carcinoma of lung | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0006142 | Malignant neoplasm of breast | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0011269 | Dementia, Vascular | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C2239176 | Liver carcinoma | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0019196 | Hepatitis C | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0265252 | Coffin-Lowry syndrome | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0027708 | Nephroblastoma | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0036341 | Schizophrenia | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0016034 | Breast Fibrocystic Disease | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0281267 | bilateral breast cancer | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C3495439 | Inflammatory disorder of breast | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0001339 | Acute pancreatitis | CPTP | 80772 | ceramide-1-phosphate transfer protein | Q5TA50 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
