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:0000822 | HP:0000822 | Hypertension | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040283 - Occasional | | | 111 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | HP:0040282 - Frequent | | | 20 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | HP:0040283 - Occasional | | | 415 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 415 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 67 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 76 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 94 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | . | | | 94 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 84 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 93 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | | | | 40 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 356 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | . | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 97 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | . | | | 525 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | HP:0040282 - Frequent | | | 92 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | HP:0003623 - Neonatal onset | | 51 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040280 - Obligate | | | 51 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CACNA1H CL E G H | 8912 | 1395 | OMIM:617027 | Hyperaldosteronism, familial, type IV | . | | | 75 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CD2AP CL E G H | 23607 | 14258 | OMIM:607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 | | | | 105 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | HP:0040282 - Frequent | | | 39 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | HP:0040282 - Frequent | | | 30 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | HP:0040282 - Frequent | | | 57 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040280 - Obligate | | | 44 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | . | | | 44 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 749 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | . | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | . | | | 92 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040280 - Obligate | | | 112 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | . | | | 112 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040280 - Obligate | | | 73 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP17A1 CL E G H | 1586 | 2593 | OMIM:202110 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | . | | | 53 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYP21A2 CL E G H | 1589 | 2600 | OMIM:201910 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | . | | | 86 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 164 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DYRK1B CL E G H | 9149 | 3092 | OMIM:615812 | Abdominal obesity-metabolic syndrome 3 | . | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 115 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | . | | | 257 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 172 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040282 - Frequent | | | 133 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 186 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:208000 | Arterial calcification, generalized, of infancy, 1 | . | | | 151 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 151 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 1361 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 1361 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | | | | 47 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | . | | | 55 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040283 - Occasional | | | 30 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:84090 | Fibronectin glomerulopathy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 23 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | HP:0040283 - Occasional | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040282 - Frequent | | | 10 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 86 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:600309 | Atrioventricular septal defect 3 | . | | | 68 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 101 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 73 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | GUCY1A1 CL E G H | 2982 | 4685 | ORPHA:401945 | Moyamoya disease with early-onset achalasia | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040283 - Occasional | | | 77 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040282 - Frequent | | | 81 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040281 - Very frequent | | | 14 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | | | | 34 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 23 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 148 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040280 - Obligate | | | 128 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | . | | | 118 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | . | | | 54 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 2157 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 73 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | HP:0040283 - Occasional | | | 68 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040281 - Very frequent | | | 645 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2613 | Nail-patella-like renal disease | HP:0040281 - Very frequent | | | 165 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | . | | | 26 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | | | | 32 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MEF2A CL E G H | 4205 | 6993 | OMIM:608320 | Coronary artery disease, autosomal dominant, 1 | . | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 11 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MTTP CL E G H | 4547 | 7467 | OMIM:605552 | Abdominal obesity-metabolic syndrome 1 | . | | | 81 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 326 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | . | | | 1952 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040282 - Frequent | | | 90 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:189800 | Preeclampsia/eclampsia 1 | . | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040282 - Frequent | | | 452 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | . | | | 85 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NR3C1 CL E G H | 2908 | 7978 | OMIM:615962 | Glucocorticoid resistance, generalized | . | | | 79 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | . | | | 109 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 27 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 178 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 13 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE3A CL E G H | 5139 | 8778 | ORPHA:1276 | Brachydactyly-arterial hypertension syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE3A CL E G H | 5139 | 8778 | OMIM:112410 | Hypertension and brachydactyly syndrome | . | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 75 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 342 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | . | | | 342 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 106 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | HP:0040283 - Occasional | | | 106 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040281 - Very frequent | | | 563 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | . | | | 19 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 19 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 42 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 134 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 41 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCN2B CL E G H | 6327 | 10589 | OMIM:615378 | Atrial fibrillation, familial, 14 | HP:0040283 - Occasional | | | 21 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | . | | | 67 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | . | | | 57 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | | | | 237 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | . | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC25A11 CL E G H | 8402 | 10981 | OMIM:618464 | PARAGANGLIOMAS 6; PGL6 | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 260 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 504 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040282 - Frequent | | | 504 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040282 - Frequent | | | 33 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | SUGCT CL E G H | 79783 | 16001 | OMIM:231690 | Glutaric aciduria III | . | | | 8 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 162 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 85 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 239 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 253 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | HP:0040282 - Frequent | | | 60 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | HP:0040282 - Frequent | | | 82 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 72 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 44 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 1090 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 2738 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 111 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 490 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | . | | | 199 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | . | | | 71 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:220 | Denys-Drash syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | HP:0040283 - Occasional | | | 177 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | HP:0040283 - Occasional | | | 109 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | YY1AP1 CL E G H | 55249 | 30935 | ORPHA:79094 | Grange syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | | | | 5 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000822 | HP:0000822 | Hypertension | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 11 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100735 | Hypertensive crisis | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0000822 | HP:0000875 | Episodic hypertension | 1 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0000822 | HP:0002640 | Hypertension associated with pheochromocytoma | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0000822 | HP:0100817 | Renovascular hypertension | 1 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | . | | | 5 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0000822 | HP:0003574 | Positive regitine blocking test | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |