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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 |
|---|---|---|---|---|---|
| C4721806 | Carcinoma, Basal Cell | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C4721806 | Carcinoma, Basal Cell | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C4721806 | Carcinoma, Basal Cell | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C4721806 | Carcinoma, Basal Cell | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C4721806 | Carcinoma, Basal Cell | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4721806 | Carcinoma, Basal Cell | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C4721845 | Marfan Syndrome, Type I | CAT | 847 | catalase | P04040 |
| 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 |
| 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 |
| C4722327 | PROSTATE CANCER, HEREDITARY, 1 | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C4722480 | PLCG2-associated antibody deficiency and immune dysregulation | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C4722524 | Blood Vessel Tumors | CD93 | 22918 | CD93 molecule | Q9NPY3 |
| C4722524 | Blood Vessel Tumors | PLD2 | 5338 | phospholipase D2 | O14939 |
| C4748579 | DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C4748930 | HYPOTRICHOSIS 14 | LSS | 4047 | lanosterol synthase | P48449 |
