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:0100749 | HP:0100749 | Chest pain | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 94 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040283 - Occasional | | | 3179 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:50251 | Pleural mesothelioma | HP:0040282 - Frequent | | | 184 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:611818 | Long QT syndrome 9 | | | | 148 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618920 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14 | | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 1371 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:930 | Idiopathic achalasia | HP:0040282 - Frequent | | | 24 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040283 - Occasional | | | 88 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 80 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 172 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 96 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 102 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 1361 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 23 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 101 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | ORPHA:930 | Idiopathic achalasia | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:930 | Idiopathic achalasia | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040284 - Very rare | | | 2 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 6 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 13 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MEF2A CL E G H | 4205 | 6993 | OMIM:608320 | Coronary artery disease, autosomal dominant, 1 | . | | | 5 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040282 - Frequent | | | 281 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 11 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 97 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:229 | Familial aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:1880 | Ebstein malformation of the tricuspid valve | HP:0040282 - Frequent | | | 1269 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | . | | | 131 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 326 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | NOS1 CL E G H | 4842 | 7872 | ORPHA:930 | Idiopathic achalasia | HP:0040282 - Frequent | | | 2 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | . | | | 57 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040282 - Frequent | | | 41 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | | | | 235 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 41 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 3 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99736 | Acetazolamide-responsive myotonia | HP:0040282 - Frequent | | | 263 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99735 | Myotonia permanens | HP:0040283 - Occasional | | | 263 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 67 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 61 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 57 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040282 - Frequent | | | 7 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 7 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 260 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 504 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040284 - Very rare | | | 2 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 86 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 162 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 85 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 239 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 253 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 253 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:604400 | Arrhythmogenic right ventricular dysplasia, familial, 5 | . | | | 171 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | . | | | 73 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 911 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040281 - Very frequent | | | 1090 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040281 - Very frequent | | | 2738 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100749 | HP:0100749 | Chest pain | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040282 - Frequent | | | 149 | | |
HP:0100749 | HP:0033771 | Pleuritic chest pain | 1 | CL E G H | | | | | | | | | | |
HP:0100749 | HP:0032141 | Precordial pain | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0100749 | HP:0032141 | Precordial pain | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0100749 | HP:0032141 | Precordial pain | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |