Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 147 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 94 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 208 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ATP11A CL E G H | 23250 | 13552 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 5 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040282 - Frequent | | | 5 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CSF2RB CL E G H | 1439 | 2436 | OMIM:614370 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 | | | | 17 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040282 - Frequent | | | 2 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040282 - Frequent | | | 24 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | DPP9 CL E G H | 91039 | 18648 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 747 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 172 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040283 - Occasional | | | 43 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | FAM13A CL E G H | 10144 | 19367 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 1361 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 23 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 87 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 37 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 6 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 13 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 11 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MUC5B CL E G H | 727897 | 7516 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 133 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 133 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:229 | Familial aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 452 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | . | | | 95 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 326 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 90 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 26 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040284 - Very rare | | | 759 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040282 - Frequent | | | 134 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 41 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 77 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SFTPA1 CL E G H | 653509 | 10798 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 19 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SFTPA2 CL E G H | 729238 | 10799 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 10 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 10 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 33 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 33 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 7 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 260 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 504 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | STN1 CL E G H | 79991 | 26200 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 2 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 20 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 48 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 238 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 238 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 162 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 85 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 239 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 253 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040282 - Frequent | | | 6 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 6 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | | | | 248 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0002875 | HP:0002875 | Exertional dyspnea | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |