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:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0006529 | HP:0006529 | Abnormal pulmonary lymphatics | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0006529 | HP:0006521 | Pulmonary lymphangiectasia | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |