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:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040281 - Very frequent | | | 145 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 145 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040281 - Very frequent | | | 317 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | CYP26C1 CL E G H | 340665 | 20577 | ORPHA:398189 | Focal facial dermal dysplasia type IV | HP:0040282 - Frequent | | | 2 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | | | | 327 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | | | | 327 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis | | | | 327 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 327 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040281 - Very frequent | | | 181 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 1 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0100494 | HP:0100494 | Abnormal mast cell morphology | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 3 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0100494 | HP:0100495 | Mastocytosis | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | | | | 327 | | |
HP:0100494 | HP:0100495 | Mastocytosis | 1 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | | | | 327 | | |
HP:0100494 | HP:0100495 | Mastocytosis | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis | | | | 327 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0100494 | HP:0031408 | Increased proportion of CD25+ mast cells | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0100494 | HP:0031824 | Hepatic mastocytosis | 2 | CL E G H | | | | | | | | | | |
HP:0100494 | HP:0200151 | Cutaneous mastocytosis | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | HP:0040281 - Very frequent | | | 327 | | |
HP:0100494 | HP:0200151 | Cutaneous mastocytosis | 2 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | . | | | 327 | | |
HP:0100494 | HP:0200151 | Cutaneous mastocytosis | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis | HP:0040281 - Very frequent | | | 327 | | |