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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 ▲ |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0017601 | Glaucoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0011849 | Diabetes Mellitus | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0265961 | Erythrokeratodermia variabilis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0349506 | Photosensitivity of skin | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0022596 | Palmoplantar Keratosis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1332201 | Adult Diffuse Large B-Cell Lymphoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C2711227 | Steatohepatitis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0015230 | Exanthema | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C3714756 | Intellectual Disability | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C2239176 | Liver carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0007134 | Renal Cell Carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0001973 | Alcoholic Intoxication, Chronic | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C1140680 | Malignant neoplasm of ovary | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0006142 | Malignant neoplasm of breast | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C4721610 | Carcinoma, Ovarian Epithelial | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0206624 | Hepatoblastoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0699791 | Stomach Carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0345904 | Malignant neoplasm of liver | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C2239176 | Liver carcinoma | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C3552335 | MYASTHENIC SYNDROME, CONGENITAL, 12 | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0020456 | Hyperglycemia | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751882 | Myasthenic Syndromes, Congenital | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0241005 | Creatine phosphokinase serum increased | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
