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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 |
|---|---|---|---|---|---|
| C1762616 | Meningioma, benign, no ICD-O subtype | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1762616 | Meningioma, benign, no ICD-O subtype | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1761609 | Aspiration pneumonitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1761609 | Aspiration pneumonitis | CAT | 847 | catalase | P04040 |
| C1744558 | T-lymphocyte deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1744558 | T-lymphocyte deficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1744558 | T-lymphocyte deficiency | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1739363 | Prostatic Hypertrophy | LGALS8 | 3964 | galectin 8 | O00214 |
| C1739363 | Prostatic Hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1720958 | Hyper-IgM Immunodeficiency Syndrome, Type 5 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1720957 | Hyper-IgM Immunodeficiency Syndrome, Type 3 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1720956 | Hyper-IgM Immunodeficiency Syndrome, Type 2 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | ARSA | 410 | arylsulfatase A | P15289 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1720860 | Familial Partial Lipodystrophy, Type 2 | LPL | 4023 | lipoprotein lipase | P06858 |
| C1720830 | Painful Bladder Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1720830 | Painful Bladder Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
