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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 ▲ |
|---|---|---|---|---|---|
| C0023903 | Liver neoplasms | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0036341 | Schizophrenia | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0400966 | Non-alcoholic Fatty Liver Disease | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0026764 | Multiple Myeloma | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0020676 | Hypothyroidism | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0027651 | Neoplasms | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0018213 | Graves Disease | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0036341 | Schizophrenia | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0027651 | Neoplasms | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0027051 | Myocardial Infarction | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0376358 | Malignant neoplasm of prostate | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0033860 | Psoriasis | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0007138 | Carcinoma, Transitional Cell | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0029463 | Osteosarcoma | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0020179 | Huntington Disease | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0238463 | Papillary thyroid carcinoma | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0003864 | Arthritis | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0684249 | Carcinoma of lung | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0006826 | Malignant Neoplasms | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C3203102 | Idiopathic pulmonary arterial hypertension | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C1140680 | Malignant neoplasm of ovary | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C1306459 | Primary malignant neoplasm | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0020538 | Hypertensive disease | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
