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:0031457 | HP:0031457 | Pulmonary opacity | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 147 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | ATP11A CL E G H | 23250 | 13552 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:265450 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 | | | | 525 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | CSF2RB CL E G H | 1439 | 2436 | OMIM:614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 | | | | 17 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | DPP9 CL E G H | 91039 | 18648 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 747 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | FAM13A CL E G H | 10144 | 19367 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | MUC5B CL E G H | 727897 | 7516 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 133 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 26 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 77 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPA1 CL E G H | 653509 | 10798 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 19 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPA2 CL E G H | 729238 | 10799 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 10 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:217563 | Neonatal acute respiratory distress due to SP-B deficiency | HP:0040282 - Frequent | | | 51 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | | | | 51 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 33 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | STN1 CL E G H | 79991 | 26200 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 2 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 48 | | |
HP:0031457 | HP:0031457 | Pulmonary opacity | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2032 | Idiopathic pulmonary fibrosis | | | | 238 | | |
HP:0031457 | HP:0033702 | Subpleural curvilinear line | 1 | CL E G H | | | | | | | | | | |
HP:0031457 | HP:0033656 | Juxtaphrenic peak | 1 | CL E G H | | | | | | | | | | |
HP:0031457 | HP:0033650 | Pulmonary parenchymal band | 1 | CL E G H | | | | | | | | | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | ABCA3 CL E G H | 21 | 33 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 147 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | ATP11A CL E G H | 23250 | 13552 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | BMPR2 CL E G H | 659 | 1078 | OMIM:265450 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 | | | | 525 | | |
HP:0031457 | HP:0025395 | Combined cystic and ground-glass pattern on pulmonary HRCT | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | CSF2RB CL E G H | 1439 | 2436 | OMIM:614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 | | | | 17 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | DPP9 CL E G H | 91039 | 18648 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 747 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040281 - Very frequent | | | 40 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | FAM13A CL E G H | 10144 | 19367 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040282 - Frequent | | | 1 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | MUC5B CL E G H | 727897 | 7516 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 133 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0031457 | HP:0032177 | Parenchymal consolidation | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 26 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 77 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPA1 CL E G H | 653509 | 10798 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 19 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPA2 CL E G H | 729238 | 10799 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 10 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | | | | 51 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPC CL E G H | 6440 | 10802 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 33 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040284 - Very rare | | | 7 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | STN1 CL E G H | 79991 | 26200 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 2 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 48 | | |
HP:0031457 | HP:0025179 | Ground-glass opacification | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 238 | | |
HP:0031457 | HP:0032983 | Atoll sign | 2 | CL E G H | | | | | | | | | | |
HP:0031457 | HP:0032971 | Computed tomographic halo sign | 2 | CL E G H | | | | | | | | | | |
HP:0031457 | HP:0025180 | Centrilobular ground-glass opacification on pulmonary HRCT | 2 | BMPR2 CL E G H | 659 | 1078 | OMIM:265450 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 | | | | 525 | | |
HP:0031457 | HP:0025180 | Centrilobular ground-glass opacification on pulmonary HRCT | 2 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0031457 | HP:0025180 | Centrilobular ground-glass opacification on pulmonary HRCT | 2 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |