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:0045049 | HP:0045049 | Abnormal DLCO | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | | | | 2 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 133 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:616373 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 | | | | 77 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 10 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 33 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 238 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0045049 | HP:0045049 | Abnormal DLCO | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0045049 | HP:0045050 | Increased DLCO | 1 | CL E G H | | | | | | | | | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040281 - Very frequent | | | 40 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 2 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 133 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | RTEL1 CL E G H | 51750 | 15888 | OMIM:616373 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 | | | | 77 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 10 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 33 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 238 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0045049 | HP:0045051 | Decreased DLCO | 1 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |