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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 ▲ |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | IMPA2 | 3613 | inositol monophosphatase 2 | O14732 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | IMPA2 | 3613 | inositol monophosphatase 2 | O14732 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | IMPA2 | 3613 | inositol monophosphatase 2 | O14732 |
| C0011991 | Diarrhea | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0007131 | Non-Small Cell Lung Carcinoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0687720 | Central Diabetes Insipidus | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0002395 | Alzheimer's Disease | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C1306459 | Primary malignant neoplasm | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0152136 | Low Tension Glaucoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0006826 | Malignant Neoplasms | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0243026 | Sepsis | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C1562894 | Thiel-Behnke corneal dystrophy | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C2239176 | Liver carcinoma | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0085682 | Hypophosphatemia | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0019693 | HIV Infections | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0033860 | Psoriasis | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0026896 | Myasthenia Gravis | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C2930619 | Sex Differentiation Disorders | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C0019269 | Hermaphroditism | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C0032460 | Polycystic Ovary Syndrome | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0678222 | Breast Carcinoma | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0006826 | Malignant Neoplasms | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C1306459 | Primary malignant neoplasm | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0037772 | Spastic Paraplegia | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0339527 | Leber Congenital Amaurosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
