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:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | BRAF CL E G H | 673 | 1097 | OMIM:211980 | Lung cancer, susceptibility to | | | | 276 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:211980 | Lung cancer, susceptibility to | | | | 37 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | CYP2A6 CL E G H | 1548 | 2610 | OMIM:211980 | Lung cancer, susceptibility to | | | | 6 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:211980 | Lung cancer, susceptibility to | | | | 257 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:211980 | Lung cancer, susceptibility to | | | | 77 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:211980 | Lung cancer, susceptibility to | | | | 199 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | FASLG CL E G H | 356 | 11936 | OMIM:211980 | Lung cancer, susceptibility to | | | | 37 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | IRF1 CL E G H | 3659 | 6116 | OMIM:211980 | Lung cancer, susceptibility to | | | | 2 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:211980 | Lung cancer, susceptibility to | | | | 196 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | MAP3K8 CL E G H | 1326 | 6860 | OMIM:211980 | Lung cancer, susceptibility to | | | | | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 133 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:211980 | Lung cancer, susceptibility to | | | | 162 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | PPP2R1B CL E G H | 5519 | 9303 | OMIM:211980 | Lung cancer, susceptibility to | | | | 1 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:211980 | Lung cancer, susceptibility to | | | | 138 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 10 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 33 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:211980 | Lung cancer, susceptibility to | | | | 3 | | |
HP:0100552 | HP:0100552 | Neoplasm of the tracheobronchial system | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 238 | | |
HP:0100552 | HP:0100551 | Neoplasm of the trachea | 1 | CL E G H | | | | | | | | | | |
HP:0100552 | HP:0030077 | Bronchial neoplasm | 1 | CL E G H | | | | | | | | | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 276 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 37 | | |
HP:0100552 | HP:0006524 | Tracheobronchial leiomyomatosis | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0100552 | HP:0006524 | Tracheobronchial leiomyomatosis | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | CYP2A6 CL E G H | 1548 | 2610 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 6 | | |
HP:0100552 | HP:0100528 | Pleuropulmonary blastoma | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0100552 | HP:0100528 | Pleuropulmonary blastoma | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0100552 | HP:0100528 | Pleuropulmonary blastoma | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | EGFR CL E G H | 1956 | 3236 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 257 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 77 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 199 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | FASLG CL E G H | 356 | 11936 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 37 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | IRF1 CL E G H | 3659 | 6116 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 2 | | |
HP:0100552 | HP:0100528 | Pleuropulmonary blastoma | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 196 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | MAP3K8 CL E G H | 1326 | 6860 | OMIM:211980 | Lung cancer, susceptibility to | . | | | | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 133 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 162 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | PPP2R1B CL E G H | 5519 | 9303 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 1 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 138 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 10 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 33 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 3 | | |
HP:0100552 | HP:0006519 | Alveolar cell carcinoma | 1 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 238 | | |
HP:0100552 | HP:0033003 | Tracheal papilloma | 2 | CL E G H | | | | | | | | | | |
HP:0100552 | HP:0033002 | Bronchial papilloma | 2 | CL E G H | | | | | | | | | | |