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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 ▲ |
|---|---|---|---|---|---|
| C0035455 | Rhinitis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0024141 | Lupus Erythematosus, Systemic | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0007134 | Renal Cell Carcinoma | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0037199 | Sinusitis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0242379 | Malignant neoplasm of lung | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0036202 | Sarcoidosis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0345904 | Malignant neoplasm of liver | CLEC2B | 9976 | C-type lectin domain family 2 member B | Q92478 |
| C0027651 | Neoplasms | CLEC2B | 9976 | C-type lectin domain family 2 member B | Q92478 |
| C0269102 | Endometrioma | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0028064 | Niemann-Pick Diseases | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0014175 | Endometriosis | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0005695 | Bladder Neoplasm | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0026654 | Moyamoya Disease | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0022658 | Kidney Diseases | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C2931384 | Moyamoya disease 1 | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0017668 | Focal glomerulosclerosis | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0006142 | Malignant neoplasm of breast | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0027651 | Neoplasms | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0003873 | Rheumatoid Arthritis | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C1458155 | Mammary Neoplasms | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0041296 | Tuberculosis | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C0019163 | Hepatitis B | HSD17B8 | 7923 | hydroxysteroid 17-beta dehydrogenase 8 | Q92506 |
| C3714756 | Intellectual Disability | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0036572 | Seizures | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0270921 | Axonal neuropathy | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
