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:0030830 | HP:0030830 | Crackles | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 147 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | ATP11A CL E G H | 23250 | 13552 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0030830 | HP:0030830 | Crackles | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 1371 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040283 - Occasional | | | 15 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040283 - Occasional | | | 17 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | DPP9 CL E G H | 91039 | 18648 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0030830 | HP:0030830 | Crackles | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 747 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | FAM13A CL E G H | 10144 | 19367 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0030830 | HP:0030830 | Crackles | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040283 - Occasional | | | 2 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | MUC5B CL E G H | 727897 | 7516 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 133 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 26 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 77 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 67 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 61 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 57 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SFTPA1 CL E G H | 653509 | 10798 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 19 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SFTPA2 CL E G H | 729238 | 10799 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 10 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 33 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | STN1 CL E G H | 79991 | 26200 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 2 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 48 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 238 | | |
HP:0030830 | HP:0030830 | Crackles | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0030830 | HP:0031996 | Inspiratory crackles | 1 | CL E G H | | | | | | | | | | |
HP:0030830 | HP:0031999 | Expiratory crackles | 1 | CL E G H | | | | | | | | | | |
HP:0030830 | HP:0031997 | Early inspiratory crackles | 2 | CL E G H | | | | | | | | | | |
HP:0030830 | HP:0031998 | Late inspiratory crackles | 2 | CL E G H | | | | | | | | | | |