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:0031547 | HP:0031547 | Abnormal QT interval | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | AKAP9 CL E G H | 10142 | 379 | OMIM:611820 | Long QT syndrome 11 | | | | 289 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | | | | 289 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | | | | 3 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | ANK2 CL E G H | 287 | 493 | OMIM:600919 | Cardiac arrhythmia, ankyrin-b-related | | | | 539 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | | | | 539 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:611875 | BRUGADA SYNDROME 3; BRGDA3 | | | | 572 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:618447 | LONG QT SYNDROME 8; LQT8 | | | | 572 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | | | | 572 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:51083 | Familial short QT syndrome | | | | 59 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CACNB2 CL E G H | 783 | 1402 | OMIM:611876 | BRUGADA SYNDROME 4; BRGDA4 | | | | 206 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM1 CL E G H | 801 | 1442 | OMIM:616247 | Long QT syndrome 14 | | | | 18 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | | | | 18 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM2 CL E G H | 805 | 1445 | OMIM:616249 | Long QT syndrome 15 | | | | 13 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | | | | 13 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM3 CL E G H | 808 | 1449 | OMIM:618782 | LONG QT SYNDROME 16; LQT16 | | | | 16 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | | | | 16 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:611818 | Long QT syndrome 9 | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | | | | 25 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | | | | 25 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | | | | 185 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNA5 CL E G H | 3741 | 6224 | OMIM:612240 | Atrial fibrillation, familial, 7 | | | | 38 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:616399 | Brugada syndrome 9 | | | | 35 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE1 CL E G H | 3753 | 6240 | OMIM:612347 | Jervell and lange-nielsen syndrome 2 | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE1 CL E G H | 3753 | 6240 | OMIM:613695 | Long QT syndrome 5 | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:613693 | Long QT syndrome 6 | | | | 43 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | | | | 43 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:51083 | Familial short QT syndrome | | | | 901 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | | | | 901 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | | | | 901 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:609620 | SHORT QT SYNDROME 1; SQT1 | | | | 901 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:51083 | Familial short QT syndrome | | | | 193 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:609622 | SHORT QT SYNDROME 3; SQT3 | | | | 193 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | | | | 128 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | | | | 128 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:51083 | Familial short QT syndrome | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:220400 | Jervell and lange-nielsen syndrome 1 | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:192500 | LONG QT SYNDROME 1; LQT1 | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:609621 | Short QT syndrome 2 | | | | 730 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | | | | 4 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | | | | 86 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | | | | 146 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN4B CL E G H | 6330 | 10592 | OMIM:611819 | Long QT syndrome 10 | | | | 110 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | | | | 110 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | | | | 1134 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:608567 | SICK SINUS SYNDROME 1; SSS1 | | | | 1134 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SLC4A3 CL E G H | 6508 | 11029 | ORPHA:51083 | Familial short QT syndrome | | | | 7 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SNTA1 CL E G H | 6640 | 11167 | OMIM:612955 | Long QT syndrome 12 | | | | 118 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | | | | 118 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | | | | 123 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TECRL CL E G H | 253017 | 27365 | OMIM:614021 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | | | | 4 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | | | | 1 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | | | | 248 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | | | | 145 | | |
HP:0031547 | HP:0031547 | Abnormal QT interval | 0 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | | | | 124 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 200 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | AKAP9 CL E G H | 10142 | 379 | OMIM:611820 | Long QT syndrome 11 | . | | | 289 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | | | | 289 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | . | | | 3 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | . | | | 89 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | ANK2 CL E G H | 287 | 493 | OMIM:600919 | Cardiac arrhythmia, ankyrin-b-related | . | | | 539 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | | | | 539 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:611875 | BRUGADA SYNDROME 3; BRGDA3 | | | | 572 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:618447 | LONG QT SYNDROME 8; LQT8 | | | | 572 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | | | | 572 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | 247 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 59 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CACNB2 CL E G H | 783 | 1402 | OMIM:611876 | BRUGADA SYNDROME 4; BRGDA4 | | | | 206 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM1 CL E G H | 801 | 1442 | OMIM:616247 | Long QT syndrome 14 | . | | | 18 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | | | | 18 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM2 CL E G H | 805 | 1445 | OMIM:616249 | Long QT syndrome 15 | . | | | 13 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | | | | 13 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM3 CL E G H | 808 | 1449 | OMIM:618782 | LONG QT SYNDROME 16; LQT16 | | | | 16 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | | | | 16 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:611818 | Long QT syndrome 9 | | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040282 - Frequent | | | 25 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | HP:0040283 - Occasional | | | 34 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 101 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 41 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | | | | 185 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNA5 CL E G H | 3741 | 6224 | OMIM:612240 | Atrial fibrillation, familial, 7 | | | | 38 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:616399 | Brugada syndrome 9 | | | | 35 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE1 CL E G H | 3753 | 6240 | OMIM:612347 | Jervell and lange-nielsen syndrome 2 | . | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE1 CL E G H | 3753 | 6240 | OMIM:613695 | Long QT syndrome 5 | . | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE2 CL E G H | 9992 | 6242 | OMIM:613693 | Long QT syndrome 6 | . | | | 43 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | | | | 43 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 901 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | . | | | 901 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | | | | 901 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNH2 CL E G H | 3757 | 6251 | OMIM:609620 | SHORT QT SYNDROME 1; SQT1 | | | | 901 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | 10 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 193 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:609622 | SHORT QT SYNDROME 3; SQT3 | | | | 193 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040282 - Frequent | | | 128 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040283 - Occasional | | | 128 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | . | | | 128 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | | | | 128 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 730 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 730 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:220400 | Jervell and lange-nielsen syndrome 1 | . | | | 730 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:192500 | LONG QT SYNDROME 1; LQT1 | | | | 730 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | | | | 730 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:609621 | Short QT syndrome 2 | | | | 730 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | | | | 4 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | | | | 146 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN4B CL E G H | 6330 | 10592 | OMIM:611819 | Long QT syndrome 10 | | | | 110 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | | | | 110 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | . | | | 1134 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | | | | 1134 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:608567 | SICK SINUS SYNDROME 1; SSS1 | | | | 1134 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0031547 | HP:0012232 | Shortened QT interval | 1 | SLC4A3 CL E G H | 6508 | 11029 | ORPHA:51083 | Familial short QT syndrome | HP:0040280 - Obligate | | | 7 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SNTA1 CL E G H | 6640 | 11167 | OMIM:612955 | Long QT syndrome 12 | | | | 118 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | | | | 118 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 86 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | | | | 123 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TECRL CL E G H | 253017 | 27365 | OMIM:614021 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | . | | | 4 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | | | | 1 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | | | | 248 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | | | | 145 | | |
HP:0031547 | HP:0001657 | Prolonged QT interval | 1 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | . | | | 124 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | AKAP9 CL E G H | 10142 | 379 | OMIM:611820 | Long QT syndrome 11 | | | | 289 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 289 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | | | | 3 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 539 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:618447 | LONG QT SYNDROME 8; LQT8 | | | | 572 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 572 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM1 CL E G H | 801 | 1442 | OMIM:616247 | Long QT syndrome 14 | | | | 18 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 18 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM2 CL E G H | 805 | 1445 | OMIM:616249 | Long QT syndrome 15 | . | | | 13 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 13 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM3 CL E G H | 808 | 1449 | OMIM:618782 | LONG QT SYNDROME 16; LQT16 | | | | 16 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 16 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 148 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | | | | 185 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNA5 CL E G H | 3741 | 6224 | OMIM:612240 | Atrial fibrillation, familial, 7 | HP:0040283 - Occasional | | | 38 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNE1 CL E G H | 3753 | 6240 | OMIM:613695 | Long QT syndrome 5 | | | | 148 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 148 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNE2 CL E G H | 9992 | 6242 | OMIM:613693 | Long QT syndrome 6 | | | | 43 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 43 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | | | | 901 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 901 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | | | | 128 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 128 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040281 - Very frequent | | | 730 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:220400 | Jervell and lange-nielsen syndrome 1 | | | | 730 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:192500 | LONG QT SYNDROME 1; LQT1 | | | | 730 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 730 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 146 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 110 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 1134 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SNTA1 CL E G H | 6640 | 11167 | OMIM:612955 | Long QT syndrome 12 | | | | 118 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 118 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 123 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | . | | | 1 | | |
HP:0031547 | HP:0005184 | Prolonged QTc interval | 2 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | HP:0040280 - Obligate | | | 145 | | |