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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 |
|---|---|---|---|---|---|
| C4748930 | HYPOTRICHOSIS 14 | LSS | 4047 | lanosterol synthase | P48449 |
| C4748579 | DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C4722524 | Blood Vessel Tumors | CD93 | 22918 | CD93 molecule | Q9NPY3 |
| C4722524 | Blood Vessel Tumors | PLD2 | 5338 | phospholipase D2 | O14939 |
| C4722480 | PLCG2-associated antibody deficiency and immune dysregulation | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C4722327 | PROSTATE CANCER, HEREDITARY, 1 | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPC | 6440 | surfactant protein C | P11686 |
| C4721916 | HMSN Type V | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C4721916 | HMSN Type V | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C4721845 | Marfan Syndrome, Type I | CAT | 847 | catalase | P04040 |
| C4721806 | Carcinoma, Basal Cell | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C4721806 | Carcinoma, Basal Cell | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C4721806 | Carcinoma, Basal Cell | HPSE | 10855 | heparanase | Q9Y251 |
| C4721806 | Carcinoma, Basal Cell | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4721806 | Carcinoma, Basal Cell | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C4721806 | Carcinoma, Basal Cell | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C4721806 | Carcinoma, Basal Cell | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C4721806 | Carcinoma, Basal Cell | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C4721806 | Carcinoma, Basal Cell | NEIL3 | 55247 | nei like DNA glycosylase 3 | Q8TAT5 |
| C4721806 | Carcinoma, Basal Cell | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C4721806 | Carcinoma, Basal Cell | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C4721806 | Carcinoma, Basal Cell | CD38 | 952 | CD38 molecule | P28907 |
| C4721806 | Carcinoma, Basal Cell | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
