Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011118 | HP:0011118 | Abnormality of tumor necrosis factor secretion | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0011118 | HP:0011118 | Abnormality of tumor necrosis factor secretion | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0011118 | HP:0011118 | Abnormality of tumor necrosis factor secretion | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0011118 | HP:0011118 | Abnormality of tumor necrosis factor secretion | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0011118 | HP:0011118 | Abnormality of tumor necrosis factor secretion | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |