Human Phenotype Ontology 
Grandparent Node:
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Abnormal cardiovascular system physiology (HP:0011025)help
Parent Node:
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Abnormal cardiac test (HP:0500015)help
Parent Node:
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Abnormality of cardiovascular system electrophysiology (HP:0030956)help
..Starting node
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Abnormal EKG (HP:0003115)help
Term ID: 3115
Name: Abnormal EKG
Synonym: Abnormal ECG; Abnormal EKG; Abnormal electrocardiogram; EKG abnormality
Definition: Abnormal rhythm of the heart.
Comments:
Reference: HP:0003115
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal T-wave (HP:0005135) help
................... HP:0010872 T-wave inversion
................... HP:0012266 T-wave alternans
........expandAbnormal ST segment (HP:0012249) help
................... HP:0012250 ST segment depression
................... HP:0012251 ST segment elevation
........expandJ wave (HP:0012272) help
........expandAbnormal U wave (HP:0025070) help
................... HP:0025071 U wave inversion
................... HP:0025072 Prominent U wave
........expandAbnormal QRS complex (HP:0025074) help
................... HP:0006677 Prolonged QRS complex
................... HP:0025076 Abnormal QRS voltage
........expandAbnormal QT interval (HP:0031547) help
................... HP:0001657 Prolonged QT interval
................... HP:0012232 Shortened QT interval
........expandAbnormal PR interval (HP:0031593) help
................... HP:0005165 Shortened PR interval
................... HP:0012248 Prolonged PR interval
........expandAbnormal P wave (HP:0031595) help
................... HP:0031598 Notched P wave
................... HP:0031599 P mitrale
................... HP:0031600 P wave inversion
................... HP:0031601 P pulmonale
........expandAbnormal PR segment (HP:0031596) help
................... HP:0031594 PR segment depression
................... HP:0031597 PR segment elevation

 Sister Nodes: 
..expandArrhythmia (HP:0011675) help
..expandCardiac conduction abnormality (HP:0031546) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003115HP:0003115Abnormal EKG0ABCC9 CL E G H1006060ORPHA:130Brugada syndrome254
HP:0003115HP:0003115Abnormal EKG0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0003115HP:0003115Abnormal EKG0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum type208
HP:0003115HP:0003115Abnormal EKG0AKAP9 CL E G H10142379ORPHA:130Brugada syndrome289
HP:0003115HP:0003115Abnormal EKG0AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0003115HP:0003115Abnormal EKG0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0003115HP:0003115Abnormal EKG0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003115HP:0003115Abnormal EKG0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0003115HP:0003115Abnormal EKG0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related539
HP:0003115HP:0003115Abnormal EKG0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0003115HP:0003115Abnormal EKG0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0003115HP:0003115Abnormal EKG0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0003115HP:0003115Abnormal EKG0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0003115HP:0003115Abnormal EKG0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0003115HP:0003115Abnormal EKG0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390OMIM:620029572
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390ORPHA:130Brugada syndrome572
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0003115HP:0003115Abnormal EKG0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0003115HP:0003115Abnormal EKG0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003115HP:0003115Abnormal EKG0CACNA2D1 CL E G H7811399ORPHA:130Brugada syndrome59
HP:0003115HP:0003115Abnormal EKG0CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndrome59
HP:0003115HP:0003115Abnormal EKG0CACNB2 CL E G H7831402ORPHA:130Brugada syndrome206
HP:0003115HP:0003115Abnormal EKG0CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0003115HP:0003115Abnormal EKG0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003115HP:0003115Abnormal EKG0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0003115HP:0003115Abnormal EKG0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0003115HP:0003115Abnormal EKG0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0003115HP:0003115Abnormal EKG0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0003115Abnormal EKG0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0003115HP:0003115Abnormal EKG0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0003115HP:0003115Abnormal EKG0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0003115Abnormal EKG0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0003115HP:0003115Abnormal EKG0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0003115HP:0003115Abnormal EKG0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0003115HP:0003115Abnormal EKG0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0003115HP:0003115Abnormal EKG0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0003115HP:0003115Abnormal EKG0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0003115HP:0003115Abnormal EKG0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0003115HP:0003115Abnormal EKG0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum type5
HP:0003115HP:0003115Abnormal EKG0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0003115HP:0003115Abnormal EKG0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0003115HP:0003115Abnormal EKG0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0003115HP:0003115Abnormal EKG0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040283 - Occasional80
HP:0003115HP:0003115Abnormal EKG0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0003115HP:0003115Abnormal EKG0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0003115HP:0003115Abnormal EKG0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0003115HP:0003115Abnormal EKG0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0003115HP:0003115Abnormal EKG0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0003115HP:0003115Abnormal EKG0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0003115HP:0003115Abnormal EKG0DOHH CL E G H8347528662OMIM:620066
HP:0003115HP:0003115Abnormal EKG0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0003115HP:0003115Abnormal EKG0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0003115HP:0003115Abnormal EKG0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003115HP:0003115Abnormal EKG0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0003115HP:0003115Abnormal EKG0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0003115HP:0003115Abnormal EKG0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0003115HP:0003115Abnormal EKG0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0003115HP:0003115Abnormal EKG0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003115HP:0003115Abnormal EKG0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003115HP:0003115Abnormal EKG0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum type87
HP:0003115HP:0003115Abnormal EKG0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum type37
HP:0003115HP:0003115Abnormal EKG0GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003115HP:0003115Abnormal EKG0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0003115HP:0003115Abnormal EKG0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0003115HP:0003115Abnormal EKG0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0003115HP:0003115Abnormal EKG0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0003115HP:0003115Abnormal EKG0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome7
HP:0003115HP:0003115Abnormal EKG0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0003115HP:0003115Abnormal EKG0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0003115HP:0003115Abnormal EKG0GPD1L CL E G H2317128956ORPHA:130Brugada syndrome97
HP:0003115HP:0003115Abnormal EKG0GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0003115HP:0003115Abnormal EKG0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0003115HP:0003115Abnormal EKG0GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003115HP:0003115Abnormal EKG0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0003115HP:0003115Abnormal EKG0HCN4 CL E G H1002116882ORPHA:130Brugada syndrome185
HP:0003115HP:0003115Abnormal EKG0HCN4 CL E G H1002116882OMIM:613123BRUGADA SYNDROME 8; BRGDA8185
HP:0003115HP:0003115Abnormal EKG0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0003115HP:0003115Abnormal EKG0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0003115HP:0003115Abnormal EKG0JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003115HP:0003115Abnormal EKG0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0003115HP:0003115Abnormal EKG0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0003115HP:0003115Abnormal EKG0KCND3 CL E G H37526239ORPHA:130Brugada syndrome35
HP:0003115HP:0003115Abnormal EKG0KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0003115HP:0003115Abnormal EKG0KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0003115HP:0003115Abnormal EKG0KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2148
HP:0003115HP:0003115Abnormal EKG0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0003115HP:0003115Abnormal EKG0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0003115Abnormal EKG0KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0003115HP:0003115Abnormal EKG0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0003115HP:0003115Abnormal EKG0KCNE3 CL E G H100086243ORPHA:130Brugada syndrome73
HP:0003115HP:0003115Abnormal EKG0KCNE3 CL E G H100086243OMIM:613119BRUGADA SYNDROME 6; BRGDA673
HP:0003115HP:0003115Abnormal EKG0KCNE5 CL E G H236306241ORPHA:130Brugada syndrome5
HP:0003115HP:0003115Abnormal EKG0KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndrome901
HP:0003115HP:0003115Abnormal EKG0KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003115HP:0003115Abnormal EKG0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0003115HP:0003115Abnormal EKG0KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0003115HP:0003115Abnormal EKG0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003115HP:0003115Abnormal EKG0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0003115HP:0003115Abnormal EKG0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0003115HP:0003115Abnormal EKG0KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndrome193
HP:0003115HP:0003115Abnormal EKG0KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0003115HP:0003115Abnormal EKG0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0003115HP:0003115Abnormal EKG0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0003115HP:0003115Abnormal EKG0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0003115HP:0003115Abnormal EKG0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0003115HP:0003115Abnormal EKG0KCNJ8 CL E G H37646269ORPHA:130Brugada syndrome23
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndrome730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0003115HP:0003115Abnormal EKG0KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0003115HP:0003115Abnormal EKG0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0003115HP:0003115Abnormal EKG0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0003115HP:0003115Abnormal EKG0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum type452
HP:0003115HP:0003115Abnormal EKG0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003115HP:0003115Abnormal EKG0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0003115HP:0003115Abnormal EKG0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 895
HP:0003115HP:0003115Abnormal EKG0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0003115HP:0003115Abnormal EKG0NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defects90
HP:0003115HP:0003115Abnormal EKG0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum type90
HP:0003115HP:0003115Abnormal EKG0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0003115HP:0003115Abnormal EKG0NPPA CL E G H48787939ORPHA:1344Atrial standstill13
HP:0003115HP:0003115Abnormal EKG0NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0003115HP:0003115Abnormal EKG0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0003115HP:0003115Abnormal EKG0PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0003115HP:0003115Abnormal EKG0PKP2 CL E G H53189024ORPHA:130Brugada syndrome406
HP:0003115HP:0003115Abnormal EKG0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndrome464
HP:0003115HP:0003115Abnormal EKG0PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0003115HP:0003115Abnormal EKG0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0003115HP:0003115Abnormal EKG0PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003115HP:0003115Abnormal EKG0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0003115HP:0003115Abnormal EKG0RAF1 CL E G H58949829OMIM:615916Cardiomyopathy, dilated, 1nn212
HP:0003115HP:0003115Abnormal EKG0RANGRF CL E G H2909817679ORPHA:130Brugada syndrome22
HP:0003115HP:0003115Abnormal EKG0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0003115HP:0003115Abnormal EKG0SCN10A CL E G H633610582ORPHA:130Brugada syndrome146
HP:0003115HP:0003115Abnormal EKG0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0003115HP:0003115Abnormal EKG0SCN1B CL E G H632410586ORPHA:130Brugada syndrome126
HP:0003115HP:0003115Abnormal EKG0SCN1B CL E G H632410586OMIM:612838BRUGADA SYNDROME 5; BRGDA5126
HP:0003115HP:0003115Abnormal EKG0SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003115HP:0003115Abnormal EKG0SCN2B CL E G H632710589ORPHA:130Brugada syndrome21
HP:0003115HP:0003115Abnormal EKG0SCN3B CL E G H5580020665ORPHA:130Brugada syndrome122
HP:0003115HP:0003115Abnormal EKG0SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7122
HP:0003115HP:0003115Abnormal EKG0SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003115HP:0003115Abnormal EKG0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593ORPHA:1344Atrial standstill1134
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593ORPHA:130Brugada syndrome1134
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA1134
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0003115HP:0003115Abnormal EKG0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0003115HP:0003115Abnormal EKG0SCNN1A CL E G H633710599ORPHA:130Brugada syndrome67
HP:0003115HP:0003115Abnormal EKG0SEMA3A CL E G H1037110723ORPHA:130Brugada syndrome14
HP:0003115HP:0003115Abnormal EKG0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0003115HP:0003115Abnormal EKG0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0003115HP:0003115Abnormal EKG0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0003115HP:0003115Abnormal EKG0SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndrome7
HP:0003115HP:0003115Abnormal EKG0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0003115HP:0003115Abnormal EKG0SLMAP CL E G H787116643ORPHA:130Brugada syndrome18
HP:0003115HP:0003115Abnormal EKG0SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0003115HP:0003115Abnormal EKG0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0003115HP:0003115Abnormal EKG0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0003115HP:0003115Abnormal EKG0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0003115HP:0003115Abnormal EKG0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0003115Abnormal EKG0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003115HP:0003115Abnormal EKG0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0003115HP:0003115Abnormal EKG0TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum type20
HP:0003115HP:0003115Abnormal EKG0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0003115HP:0003115Abnormal EKG0TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 34
HP:0003115HP:0003115Abnormal EKG0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0003115HP:0003115Abnormal EKG0TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum type6
HP:0003115HP:0003115Abnormal EKG0TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5171
HP:0003115HP:0003115Abnormal EKG0TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 1373
HP:0003115HP:0003115Abnormal EKG0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0003115HP:0003115Abnormal EKG0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0003115HP:0003115Abnormal EKG0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0003115HP:0003115Abnormal EKG0TRPM4 CL E G H5479517993ORPHA:130Brugada syndrome124
HP:0003115HP:0003115Abnormal EKG0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB124
HP:0003115HP:0003115Abnormal EKG0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0003115HP:0031596Abnormal PR segment1 CL E G H
HP:0003115HP:0012249Abnormal ST segment1ABCC9 CL E G H1006060ORPHA:130Brugada syndrome254
HP:0003115HP:0031547Abnormal QT interval1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0003115HP:0012249Abnormal ST segment1ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum type208
HP:0003115HP:0012249Abnormal ST segment1AKAP9 CL E G H10142379ORPHA:130Brugada syndrome289
HP:0003115HP:0031547Abnormal QT interval1AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0003115HP:0031547Abnormal QT interval1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0003115HP:0005135Abnormal T-wave1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent289
HP:0003115HP:0005135Abnormal T-wave1ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003115HP:0031547Abnormal QT interval1ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003115HP:0031547Abnormal QT interval1ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0003115HP:0031547Abnormal QT interval1ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related539
HP:0003115HP:0005135Abnormal T-wave1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent539
HP:0003115HP:0031547Abnormal QT interval1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0003115HP:0005135Abnormal T-wave1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0003115HP:0005135Abnormal T-wave1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0003115HP:0031547Abnormal QT interval1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0003115HP:0005135Abnormal T-wave1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0003115HP:0005135Abnormal T-wave1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0003115HP:0031547Abnormal QT interval1CACNA1C CL E G H7751390OMIM:620029572
HP:0003115HP:0012249Abnormal ST segment1CACNA1C CL E G H7751390ORPHA:130Brugada syndrome572
HP:0003115HP:0031547Abnormal QT interval1CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0003115HP:0012272J wave1CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0003115HP:0031547Abnormal QT interval1CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0003115HP:0031547Abnormal QT interval1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0003115HP:0005135Abnormal T-wave1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent572
HP:0003115HP:0031547Abnormal QT interval1CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0003115HP:0031593Abnormal PR interval1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003115HP:0031547Abnormal QT interval1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003115HP:0012249Abnormal ST segment1CACNA2D1 CL E G H7811399ORPHA:130Brugada syndrome59
HP:0003115HP:0031547Abnormal QT interval1CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndrome59
HP:0003115HP:0012249Abnormal ST segment1CACNB2 CL E G H7831402ORPHA:130Brugada syndrome206
HP:0003115HP:0031547Abnormal QT interval1CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0003115HP:0005135Abnormal T-wave1CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003115HP:0031547Abnormal QT interval1CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003115HP:0005135Abnormal T-wave1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent18
HP:0003115HP:0031547Abnormal QT interval1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0003115HP:0031547Abnormal QT interval1CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0003115HP:0005135Abnormal T-wave1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent13
HP:0003115HP:0031547Abnormal QT interval1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0003115HP:0005135Abnormal T-wave1CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0031547Abnormal QT interval1CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0031547Abnormal QT interval1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0003115HP:0005135Abnormal T-wave1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent16
HP:0003115HP:0031547Abnormal QT interval1CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0003115HP:0025070Abnormal U wave1CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0003115HP:0031547Abnormal QT interval1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0005135Abnormal T-wave1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent148
HP:0003115HP:0031547Abnormal QT interval1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0003115HP:0031547Abnormal QT interval1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0003115HP:0031547Abnormal QT interval1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0003115HP:0031547Abnormal QT interval1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0003115HP:0031547Abnormal QT interval1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0003115HP:0031547Abnormal QT interval1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0003115HP:0031547Abnormal QT interval1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0003115HP:0012249Abnormal ST segment1CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum type5
HP:0003115HP:0031593Abnormal PR interval1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0003115HP:0031547Abnormal QT interval1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0003115HP:0025070Abnormal U wave1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0003115HP:0005135Abnormal T-wave1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003115HP:0012249Abnormal ST segment1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0003115HP:0005135Abnormal T-wave1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0003115HP:0031593Abnormal PR interval1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0003115HP:0005135Abnormal T-wave1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0003115HP:0005135Abnormal T-wave1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0003115HP:0031547Abnormal QT interval1DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0003115HP:0031547Abnormal QT interval1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0003115HP:0031593Abnormal PR interval1DOHH CL E G H8347528662OMIM:620066
HP:0003115HP:0031547Abnormal QT interval1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0003115HP:0031593Abnormal PR interval1DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0003115HP:0034304Epsilon wave1DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0003115HP:0031595Abnormal P wave1EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0003115HP:0031547Abnormal QT interval1FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0003115HP:0031593Abnormal PR interval1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0003115HP:0031593Abnormal PR interval1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003115HP:0033566Abnormal ventricular axis1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003115HP:0031547Abnormal QT interval1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003115HP:0031593Abnormal PR interval1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003115HP:0012249Abnormal ST segment1GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum type87
HP:0003115HP:0012249Abnormal ST segment1GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum type37
HP:0003115HP:0031595Abnormal P wave1GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003115HP:0025074Abnormal QRS complex1GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003115HP:0031547Abnormal QT interval1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0003115HP:0031547Abnormal QT interval1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0003115HP:0031547Abnormal QT interval1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0003115HP:0031547Abnormal QT interval1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0003115HP:0031593Abnormal PR interval1GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome7
HP:0003115HP:0031547Abnormal QT interval1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0003115HP:0031547Abnormal QT interval1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0003115HP:0012249Abnormal ST segment1GPD1L CL E G H2317128956ORPHA:130Brugada syndrome97
HP:0003115HP:0031593Abnormal PR interval1GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0003115HP:0005135Abnormal T-wave1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0003115HP:0012249Abnormal ST segment1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0003115HP:0012249Abnormal ST segment1GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003115HP:0005135Abnormal T-wave1GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003115HP:0031547Abnormal QT interval1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0003115HP:0012249Abnormal ST segment1HCN4 CL E G H1002116882ORPHA:130Brugada syndrome185
HP:0003115HP:0012249Abnormal ST segment1HCN4 CL E G H1002116882OMIM:613123BRUGADA SYNDROME 8; BRGDA8185
HP:0003115HP:0031547Abnormal QT interval1HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0003115HP:0025074Abnormal QRS complex1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0003115HP:0025074Abnormal QRS complex1JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003115HP:0005135Abnormal T-wave1JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003115HP:0005135Abnormal T-wave1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0003115HP:0025074Abnormal QRS complex1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0003115HP:0031593Abnormal PR interval1KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0003115HP:0031547Abnormal QT interval1KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0003115HP:0012249Abnormal ST segment1KCND3 CL E G H37526239ORPHA:130Brugada syndrome35
HP:0003115HP:0012249Abnormal ST segment1KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0003115HP:0031547Abnormal QT interval1KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0003115HP:0031547Abnormal QT interval1KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0003115HP:0031547Abnormal QT interval1KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2148
HP:0003115HP:0031547Abnormal QT interval1KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0003115HP:0005135Abnormal T-wave1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent148
HP:0003115HP:0031547Abnormal QT interval1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0031547Abnormal QT interval1KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0003115HP:0031547Abnormal QT interval1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0003115HP:0005135Abnormal T-wave1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent43
HP:0003115HP:0012249Abnormal ST segment1KCNE3 CL E G H100086243ORPHA:130Brugada syndrome73
HP:0003115HP:0012249Abnormal ST segment1KCNE3 CL E G H100086243OMIM:613119BRUGADA SYNDROME 6; BRGDA673
HP:0003115HP:0012249Abnormal ST segment1KCNE5 CL E G H236306241ORPHA:130Brugada syndrome5
HP:0003115HP:0031547Abnormal QT interval1KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndrome901
HP:0003115HP:0031547Abnormal QT interval1KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003115HP:0005135Abnormal T-wave1KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003115HP:0031547Abnormal QT interval1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0003115HP:0005135Abnormal T-wave1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent901
HP:0003115HP:0031547Abnormal QT interval1KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0003115HP:0031593Abnormal PR interval1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003115HP:0031547Abnormal QT interval1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003115HP:0031547Abnormal QT interval1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0003115HP:0025070Abnormal U wave1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0003115HP:0031547Abnormal QT interval1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0003115HP:0005135Abnormal T-wave1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0003115HP:0025070Abnormal U wave1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0003115HP:0031547Abnormal QT interval1KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndrome193
HP:0003115HP:0031547Abnormal QT interval1KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0003115HP:0005135Abnormal T-wave1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0003115HP:0025070Abnormal U wave1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0003115HP:0031547Abnormal QT interval1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0003115HP:0031547Abnormal QT interval1KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0003115HP:0031547Abnormal QT interval1KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0003115HP:0005135Abnormal T-wave1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent128
HP:0003115HP:0031547Abnormal QT interval1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0003115HP:0012249Abnormal ST segment1KCNJ8 CL E G H37646269ORPHA:130Brugada syndrome23
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndrome730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0003115HP:0005135Abnormal T-wave1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0003115HP:0031547Abnormal QT interval1KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0003115HP:0031547Abnormal QT interval1MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0003115HP:0005135Abnormal T-wave1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0003115HP:0031547Abnormal QT interval1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0003115HP:0012249Abnormal ST segment1MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum type452
HP:0003115HP:0033566Abnormal ventricular axis1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003115HP:0005135Abnormal T-wave1MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0003115HP:0005135Abnormal T-wave1MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 895
HP:0003115HP:0031593Abnormal PR interval1NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defects90
HP:0003115HP:0012249Abnormal ST segment1NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum type90
HP:0003115HP:0031547Abnormal QT interval1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0003115HP:0005135Abnormal T-wave1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent4
HP:0003115HP:0031595Abnormal P wave1NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040281 - Very frequent13
HP:0003115HP:0031595Abnormal P wave1NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0003115HP:0031547Abnormal QT interval1PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0003115HP:0034304Epsilon wave1PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0003115HP:0025074Abnormal QRS complex1PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0003115HP:0012249Abnormal ST segment1PKP2 CL E G H53189024ORPHA:130Brugada syndrome406
HP:0003115HP:0012249Abnormal ST segment1POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndrome464
HP:0003115HP:0025074Abnormal QRS complex1PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0003115HP:0031593Abnormal PR interval1PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0003115HP:0031593Abnormal PR interval1PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0003115HP:0025074Abnormal QRS complex1PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003115HP:0031593Abnormal PR interval1PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003115HP:0031547Abnormal QT interval1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0003115HP:0012249Abnormal ST segment1RAF1 CL E G H58949829OMIM:615916Cardiomyopathy, dilated, 1nn212
HP:0003115HP:0012249Abnormal ST segment1RANGRF CL E G H2909817679ORPHA:130Brugada syndrome22
HP:0003115HP:0005135Abnormal T-wave1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0003115HP:0012249Abnormal ST segment1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0003115HP:0031547Abnormal QT interval1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0003115HP:0012249Abnormal ST segment1SCN10A CL E G H633610582ORPHA:130Brugada syndrome146
HP:0003115HP:0005135Abnormal T-wave1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent146
HP:0003115HP:0031547Abnormal QT interval1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0003115HP:0012249Abnormal ST segment1SCN1B CL E G H632410586ORPHA:130Brugada syndrome126
HP:0003115HP:0012249Abnormal ST segment1SCN1B CL E G H632410586OMIM:612838BRUGADA SYNDROME 5; BRGDA5126
HP:0003115HP:0031593Abnormal PR interval1SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003115HP:0012249Abnormal ST segment1SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003115HP:0012249Abnormal ST segment1SCN2B CL E G H632710589ORPHA:130Brugada syndrome21
HP:0003115HP:0012249Abnormal ST segment1SCN3B CL E G H5580020665ORPHA:130Brugada syndrome122
HP:0003115HP:0012249Abnormal ST segment1SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7122
HP:0003115HP:0031595Abnormal P wave1SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7122
HP:0003115HP:0031547Abnormal QT interval1SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003115HP:0005135Abnormal T-wave1SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003115HP:0031547Abnormal QT interval1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0003115HP:0005135Abnormal T-wave1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent110
HP:0003115HP:0031595Abnormal P wave1SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040281 - Very frequent1134
HP:0003115HP:0012249Abnormal ST segment1SCN5A CL E G H633110593ORPHA:130Brugada syndrome1134
HP:0003115HP:0031547Abnormal QT interval1SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0003115HP:0031593Abnormal PR interval1SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA1134
HP:0003115HP:0031547Abnormal QT interval1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0003115HP:0005135Abnormal T-wave1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent1134
HP:0003115HP:0031547Abnormal QT interval1SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0003115HP:0031595Abnormal P wave1SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0003115HP:0012249Abnormal ST segment1SCNN1A CL E G H633710599ORPHA:130Brugada syndrome67
HP:0003115HP:0012249Abnormal ST segment1SEMA3A CL E G H1037110723ORPHA:130Brugada syndrome14
HP:0003115HP:0031547Abnormal QT interval1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0003115HP:0012249Abnormal ST segment1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0003115HP:0005135Abnormal T-wave1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003115HP:0025070Abnormal U wave1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0003115HP:0031593Abnormal PR interval1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0003115HP:0031547Abnormal QT interval1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0003115HP:0005135Abnormal T-wave1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0003115HP:0031547Abnormal QT interval1SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndrome7
HP:0003115HP:0031547Abnormal QT interval1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0003115HP:0012249Abnormal ST segment1SLMAP CL E G H787116643ORPHA:130Brugada syndrome18
HP:0003115HP:0031547Abnormal QT interval1SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0003115HP:0005135Abnormal T-wave1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent118
HP:0003115HP:0031547Abnormal QT interval1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0003115HP:0031547Abnormal QT interval1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0003115HP:0031547Abnormal QT interval1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0003115HP:0025074Abnormal QRS complex1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0031547Abnormal QT interval1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0031547Abnormal QT interval1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003115HP:0031547Abnormal QT interval1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0003115HP:0012249Abnormal ST segment1TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum type20
HP:0003115HP:0031547Abnormal QT interval1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0003115HP:0005135Abnormal T-wave1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent123
HP:0003115HP:0031547Abnormal QT interval1TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 34
HP:0003115HP:0031593Abnormal PR interval1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0003115HP:0031595Abnormal P wave1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6
HP:0003115HP:0012249Abnormal ST segment1TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum type6
HP:0003115HP:0025074Abnormal QRS complex1TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5171
HP:0003115HP:0012249Abnormal ST segment1TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 1373
HP:0003115HP:0031547Abnormal QT interval1TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0003115HP:0031547Abnormal QT interval1TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0003115HP:0005135Abnormal T-wave1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent145
HP:0003115HP:0031547Abnormal QT interval1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0003115HP:0012249Abnormal ST segment1TRPM4 CL E G H5479517993ORPHA:130Brugada syndrome124
HP:0003115HP:0031547Abnormal QT interval1TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB124
HP:0003115HP:0031593Abnormal PR interval1TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB124
HP:0003115HP:0031598Notched P wave2 CL E G H
HP:0003115HP:0025071U wave inversion2 CL E G H
HP:0003115HP:0031597PR segment elevation2 CL E G H
HP:0003115HP:0032195Abnormal S wave2 CL E G H
HP:0003115HP:0031594PR segment depression2 CL E G H
HP:0003115HP:0031601P pulmonale2 CL E G H
HP:0003115HP:0033570Indeterminate ventricular axis2 CL E G H
HP:0003115HP:0031600P wave inversion2 CL E G H
HP:0003115HP:0033569Extreme axis deviation2 CL E G H
HP:0003115HP:0031599P mitrale2 CL E G H
HP:0003115HP:0033568Left axis deviation2 CL E G H
HP:0003115HP:0012251ST segment elevation2ABCC9 CL E G H1006060ORPHA:130Brugada syndromeHP:0040282 - Frequent254
HP:0003115HP:0001657Prolonged QT interval2ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare200
HP:0003115HP:0012250ST segment depression2ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional208
HP:0003115HP:0012251ST segment elevation2AKAP9 CL E G H10142379ORPHA:130Brugada syndromeHP:0040282 - Frequent289
HP:0003115HP:0001657Prolonged QT interval2AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11.289
HP:0003115HP:0001657Prolonged QT interval2AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0003115HP:0001657Prolonged QT interval2ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 2.3
HP:0003115HP:0034303Notched T wave2ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003115HP:0001657Prolonged QT interval2ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 27.89
HP:0003115HP:0001657Prolonged QT interval2ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related.539
HP:0003115HP:0001657Prolonged QT interval2ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0003115HP:0001657Prolonged QT interval2BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0003115HP:0001657Prolonged QT interval2CACNA1C CL E G H7751390OMIM:620029572
HP:0003115HP:0012251ST segment elevation2CACNA1C CL E G H7751390ORPHA:130Brugada syndromeHP:0040282 - Frequent572
HP:0003115HP:0012232Shortened QT interval2CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0003115HP:0001657Prolonged QT interval2CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0003115HP:0001657Prolonged QT interval2CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0003115HP:0001657Prolonged QT interval2CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0003115HP:0001657Prolonged QT interval2CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0003115HP:0005165Shortened PR interval2CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0003115HP:0012251ST segment elevation2CACNA2D1 CL E G H7811399ORPHA:130Brugada syndromeHP:0040282 - Frequent59
HP:0003115HP:0012232Shortened QT interval2CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate59
HP:0003115HP:0012251ST segment elevation2CACNB2 CL E G H7831402ORPHA:130Brugada syndromeHP:0040282 - Frequent206
HP:0003115HP:0012232Shortened QT interval2CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0003115HP:0001657Prolonged QT interval2CALM1 CL E G H8011442OMIM:616247Long QT syndrome 14.18
HP:0003115HP:0012266T-wave alternans2CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003115HP:0001657Prolonged QT interval2CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0003115HP:0001657Prolonged QT interval2CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0003115HP:0001657Prolonged QT interval2CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0003115HP:0012266T-wave alternans2CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0001657Prolonged QT interval2CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0001657Prolonged QT interval2CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0003115HP:0001657Prolonged QT interval2CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0003115HP:0001657Prolonged QT interval2CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0001657Prolonged QT interval2CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003115HP:0012232Shortened QT interval2CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040282 - Frequent169
HP:0003115HP:0012232Shortened QT interval2CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0003115HP:0012232Shortened QT interval2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0003115HP:0012232Shortened QT interval2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0003115HP:0012232Shortened QT interval2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0003115HP:0012232Shortened QT interval2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0003115HP:0012250ST segment depression2CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional5
HP:0003115HP:0001657Prolonged QT interval2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0003115HP:0025072Prominent U wave2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003115HP:0012248Prolonged PR interval2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003115HP:0012250ST segment depression2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003115HP:0010872T-wave inversion2CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0003115HP:0005165Shortened PR interval2CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0003115HP:0001657Prolonged QT interval2DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0003115HP:0001657Prolonged QT interval2DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040282 - Frequent25
HP:0003115HP:0005165Shortened PR interval2DOHH CL E G H8347528662OMIM:620066
HP:0003115HP:0001657Prolonged QT interval2DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0003115HP:0012248Prolonged PR interval2DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0003115HP:0033122Absent P wave2EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0003115HP:0001657Prolonged QT interval2FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0003115HP:0005165Shortened PR interval2GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0003115HP:0005165Shortened PR interval2GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0003115HP:0033567Right axis deviation2GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003115HP:0001657Prolonged QT interval2GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0003115HP:0005165Shortened PR interval2GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0003115HP:0012250ST segment depression2GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional87
HP:0003115HP:0012250ST segment depression2GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional37
HP:0003115HP:0006677Prolonged QRS complex2GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003115HP:0034308Prolonged P wave2GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003115HP:0001657Prolonged QT interval2GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0003115HP:0001657Prolonged QT interval2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0003115HP:0001657Prolonged QT interval2GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0003115HP:0001657Prolonged QT interval2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0003115HP:0012248Prolonged PR interval2GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040283 - Occasional7
HP:0003115HP:0001657Prolonged QT interval2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0003115HP:0001657Prolonged QT interval2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0003115HP:0012251ST segment elevation2GPD1L CL E G H2317128956ORPHA:130Brugada syndromeHP:0040282 - Frequent97
HP:0003115HP:0012248Prolonged PR interval2GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0003115HP:0012251ST segment elevation2GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003115HP:0010872T-wave inversion2GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003115HP:0010872T-wave inversion2GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003115HP:0012251ST segment elevation2GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003115HP:0001657Prolonged QT interval2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare41
HP:0003115HP:0012251ST segment elevation2HCN4 CL E G H1002116882ORPHA:130Brugada syndromeHP:0040282 - Frequent185
HP:0003115HP:0012251ST segment elevation2HCN4 CL E G H1002116882OMIM:613123BRUGADA SYNDROME 8; BRGDA8185
HP:0003115HP:0001657Prolonged QT interval2HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0003115HP:0006677Prolonged QRS complex2IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0003115HP:0006677Prolonged QRS complex2JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003115HP:0010872T-wave inversion2JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003115HP:0006677Prolonged QRS complex2JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0003115HP:0010872T-wave inversion2JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0003115HP:0012248Prolonged PR interval2KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 7HP:0040283 - Occasional38
HP:0003115HP:0001657Prolonged QT interval2KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0003115HP:0012251ST segment elevation2KCND3 CL E G H37526239ORPHA:130Brugada syndromeHP:0040282 - Frequent35
HP:0003115HP:0012251ST segment elevation2KCND3 CL E G H37526239OMIM:616399Brugada syndrome 9.35
HP:0003115HP:0001657Prolonged QT interval2KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0003115HP:0001657Prolonged QT interval2KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0003115HP:0001657Prolonged QT interval2KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2.148
HP:0003115HP:0001657Prolonged QT interval2KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5.148
HP:0003115HP:0001657Prolonged QT interval2KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0003115HP:0001657Prolonged QT interval2KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 6.43
HP:0003115HP:0001657Prolonged QT interval2KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0003115HP:0012251ST segment elevation2KCNE3 CL E G H100086243ORPHA:130Brugada syndromeHP:0040282 - Frequent73
HP:0003115HP:0012251ST segment elevation2KCNE3 CL E G H100086243OMIM:613119BRUGADA SYNDROME 6; BRGDA673
HP:0003115HP:0012251ST segment elevation2KCNE5 CL E G H236306241ORPHA:130Brugada syndromeHP:0040282 - Frequent5
HP:0003115HP:0012232Shortened QT interval2KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate901
HP:0003115HP:0034303Notched T wave2KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003115HP:0001657Prolonged QT interval2KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2.901
HP:0003115HP:0001657Prolonged QT interval2KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0003115HP:0012232Shortened QT interval2KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0003115HP:0001657Prolonged QT interval2KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0003115HP:0005165Shortened PR interval2KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0003115HP:0001657Prolonged QT interval2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0003115HP:0025072Prominent U wave2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0003115HP:0025072Prominent U wave2KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0003115HP:0001657Prolonged QT interval2KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent193
HP:0003115HP:0012232Shortened QT interval2KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate193
HP:0003115HP:0012232Shortened QT interval2KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0003115HP:0025072Prominent U wave2KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0003115HP:0001657Prolonged QT interval2KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent128
HP:0003115HP:0001657Prolonged QT interval2KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0003115HP:0001657Prolonged QT interval2KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0003115HP:0001657Prolonged QT interval2KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0003115HP:0012251ST segment elevation2KCNJ8 CL E G H37646269ORPHA:130Brugada syndromeHP:0040282 - Frequent23
HP:0003115HP:0001657Prolonged QT interval2KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0003115HP:0012232Shortened QT interval2KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate730
HP:0003115HP:0001657Prolonged QT interval2KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0003115HP:0001657Prolonged QT interval2KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1.730
HP:0003115HP:0001657Prolonged QT interval2KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0003115HP:0001657Prolonged QT interval2KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0003115HP:0012232Shortened QT interval2KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0003115HP:0001657Prolonged QT interval2MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0003115HP:0012232Shortened QT interval2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0003115HP:0012250ST segment depression2MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional452
HP:0003115HP:0033567Right axis deviation2MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003115HP:0010872T-wave inversion2MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10.131
HP:0003115HP:0010872T-wave inversion2MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 8.95
HP:0003115HP:0012248Prolonged PR interval2NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defects.90
HP:0003115HP:0012250ST segment depression2NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional90
HP:0003115HP:0001657Prolonged QT interval2NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0003115HP:0033122Absent P wave2NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0003115HP:0001657Prolonged QT interval2PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0003115HP:0006677Prolonged QRS complex2PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0003115HP:0012251ST segment elevation2PKP2 CL E G H53189024ORPHA:130Brugada syndromeHP:0040282 - Frequent406
HP:0003115HP:0012251ST segment elevation2POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040282 - Frequent464
HP:0003115HP:0006677Prolonged QRS complex2PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0003115HP:0005165Shortened PR interval2PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0003115HP:0005165Shortened PR interval2PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0003115HP:0005165Shortened PR interval2PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003115HP:0006677Prolonged QRS complex2PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003115HP:0001657Prolonged QT interval2PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0003115HP:0012251ST segment elevation2RANGRF CL E G H2909817679ORPHA:130Brugada syndromeHP:0040282 - Frequent22
HP:0003115HP:0012250ST segment depression2RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0003115HP:0001657Prolonged QT interval2RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0003115HP:0012251ST segment elevation2SCN10A CL E G H633610582ORPHA:130Brugada syndromeHP:0040282 - Frequent146
HP:0003115HP:0001657Prolonged QT interval2SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0003115HP:0012251ST segment elevation2SCN1B CL E G H632410586ORPHA:130Brugada syndromeHP:0040282 - Frequent126
HP:0003115HP:0012251ST segment elevation2SCN1B CL E G H632410586OMIM:612838BRUGADA SYNDROME 5; BRGDA5126
HP:0003115HP:0012251ST segment elevation2SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003115HP:0012248Prolonged PR interval2SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003115HP:0012251ST segment elevation2SCN2B CL E G H632710589ORPHA:130Brugada syndromeHP:0040282 - Frequent21
HP:0003115HP:0012251ST segment elevation2SCN3B CL E G H5580020665ORPHA:130Brugada syndromeHP:0040282 - Frequent122
HP:0003115HP:0012251ST segment elevation2SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7.122
HP:0003115HP:0034308Prolonged P wave2SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7122
HP:0003115HP:0012266T-wave alternans2SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003115HP:0001657Prolonged QT interval2SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003115HP:0001657Prolonged QT interval2SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0003115HP:0012251ST segment elevation2SCN5A CL E G H633110593ORPHA:130Brugada syndromeHP:0040282 - Frequent1134
HP:0003115HP:0001657Prolonged QT interval2SCN5A CL E G H633110593OMIM:603830Long QT syndrome 3.1134
HP:0003115HP:0012248Prolonged PR interval2SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA1134
HP:0003115HP:0001657Prolonged QT interval2SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0003115HP:0033122Absent P wave2SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0003115HP:0001657Prolonged QT interval2SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0003115HP:0012251ST segment elevation2SCNN1A CL E G H633710599ORPHA:130Brugada syndromeHP:0040282 - Frequent67
HP:0003115HP:0012251ST segment elevation2SEMA3A CL E G H1037110723ORPHA:130Brugada syndromeHP:0040282 - Frequent14
HP:0003115HP:0001657Prolonged QT interval2SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0003115HP:0012250ST segment depression2SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003115HP:0001657Prolonged QT interval2SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0003115HP:0025072Prominent U wave2SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003115HP:0012248Prolonged PR interval2SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003115HP:0012232Shortened QT interval2SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate7
HP:0003115HP:0001657Prolonged QT interval2SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0003115HP:0012251ST segment elevation2SLMAP CL E G H787116643ORPHA:130Brugada syndromeHP:0040282 - Frequent18
HP:0003115HP:0001657Prolonged QT interval2SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0003115HP:0001657Prolonged QT interval2SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0003115HP:0001657Prolonged QT interval2SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0003115HP:0001657Prolonged QT interval2STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0003115HP:0025076Abnormal QRS voltage2SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0001657Prolonged QT interval2SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0001657Prolonged QT interval2TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003115HP:0001657Prolonged QT interval2TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0003115HP:0012250ST segment depression2TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional20
HP:0003115HP:0001657Prolonged QT interval2TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0003115HP:0001657Prolonged QT interval2TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 3.4
HP:0003115HP:0012248Prolonged PR interval2TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6
HP:0003115HP:0012250ST segment depression2TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional6
HP:0003115HP:0006677Prolonged QRS complex2TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5171
HP:0003115HP:0012250ST segment depression2TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 13.73
HP:0003115HP:0001657Prolonged QT interval2TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0003115HP:0001657Prolonged QT interval2TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0003115HP:0001657Prolonged QT interval2TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0003115HP:0012251ST segment elevation2TRPM4 CL E G H5479517993ORPHA:130Brugada syndromeHP:0040282 - Frequent124
HP:0003115HP:0005165Shortened PR interval2TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0003115HP:0001657Prolonged QT interval2TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0003115HP:0025073Exercise-induced U wave inversion3 CL E G H
HP:0003115HP:0032197Deep S wave in lead V53 CL E G H
HP:0003115HP:0032196Prominent S wave in lead I3 CL E G H
HP:0003115HP:0003140T-wave inversion in the right precordial leads3 CL E G H
HP:0003115HP:0025078Electrical alternans3 CL E G H
HP:0003115HP:0025077Decreased QRS voltage3 CL E G H
HP:0003115HP:0005184Prolonged QTc interval3AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0003115HP:0005184Prolonged QTc interval3AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate289
HP:0003115HP:0005184Prolonged QTc interval3ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003115HP:0005184Prolonged QTc interval3ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate539
HP:0003115HP:0005184Prolonged QTc interval3CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0003115HP:0005184Prolonged QTc interval3CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate572
HP:0003115HP:0005184Prolonged QTc interval3CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003115HP:0005184Prolonged QTc interval3CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate18
HP:0003115HP:0005184Prolonged QTc interval3CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0003115HP:0005184Prolonged QTc interval3CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate13
HP:0003115HP:0005184Prolonged QTc interval3CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0003115HP:0005184Prolonged QTc interval3CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate16
HP:0003115HP:0005184Prolonged QTc interval3CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0003115HP:0005184Prolonged QTc interval3FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0003115HP:0005184Prolonged QTc interval3HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0003115HP:0005184Prolonged QTc interval3KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 7HP:0040283 - Occasional38
HP:0003115HP:0005184Prolonged QTc interval3KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent148
HP:0003115HP:0005184Prolonged QTc interval3KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0003115HP:0005184Prolonged QTc interval3KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0003115HP:0005184Prolonged QTc interval3KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0003115HP:0005184Prolonged QTc interval3KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate43
HP:0003115HP:0005184Prolonged QTc interval3KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003115HP:0005184Prolonged QTc interval3KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate901
HP:0003115HP:0005184Prolonged QTc interval3KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0003115HP:0005184Prolonged QTc interval3KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0003115HP:0005184Prolonged QTc interval3KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0003115HP:0005184Prolonged QTc interval3KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0003115HP:0005184Prolonged QTc interval3KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate128
HP:0003115HP:0005184Prolonged QTc interval3KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0003115HP:0005184Prolonged QTc interval3KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent730
HP:0003115HP:0005184Prolonged QTc interval3KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0003115HP:0005184Prolonged QTc interval3KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0003115HP:0005184Prolonged QTc interval3KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate730
HP:0003115HP:0005184Prolonged QTc interval3MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0003115HP:0005184Prolonged QTc interval3NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate4
HP:0003115HP:0005184Prolonged QTc interval3SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate146
HP:0003115HP:0005184Prolonged QTc interval3SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate110
HP:0003115HP:0005184Prolonged QTc interval3SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0003115HP:0005184Prolonged QTc interval3SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate1134
HP:0003115HP:0005184Prolonged QTc interval3SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0003115HP:0005184Prolonged QTc interval3SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate118
HP:0003115HP:0025075Increased QRS voltage3SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0005184Prolonged QTc interval3SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003115HP:0005184Prolonged QTc interval3TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003115HP:0005184Prolonged QTc interval3TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate123
HP:0003115HP:0005184Prolonged QTc interval3TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy.1
HP:0003115HP:0005184Prolonged QTc interval3TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate145


Genes (116) :ABCC9 ACADVL ACTC1 AKAP9 ALG10B ALPK3 ANK2 ATP1A2 ATP1A3 BPTF BRF1 CACNA1A CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CAV3 CAVIN1 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CITED2 CLCNKB CLN3 CYTB DBH DCAF17 DMD DNAJC19 DOHH DPAGT1 DSG2 DYSF EMD FLNC FXN GAA GABRA3 GATA4 GATA6 GJA5 GMPPB GNAS GNB5 GPC3 GPC4 GPD1L GYG1 HADH HCN4 IRX5 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNQ1 MECP2 MEN1 MYH6 MYH7 MYL2 MYL3 NEU1 NKX2-5 NOS1AP NPPA PHOX2B PKP2 POLG PRKAG2 PSMD12 RAF1 RANGRF RYR1 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SLC12A3 SLC1A3 SLC4A3 SLC6A8 SLMAP SNTA1 SRY STX16 SVIL TANGO2 TBX20 TBX5 TECRL TLL1 TMEM43 TNNC1 TNNI3K TNNT2 TRDN TRPM4 TTR

Diseases (116) :ORPHA:130 ORPHA:26793 ORPHA:99103 OMIM:611820 ORPHA:101016 OMIM:613688 OMIM:618052 OMIM:600919 ORPHA:2131 ORPHA:529962 ORPHA:444072 OMIM:620029 OMIM:611875 OMIM:618447 OMIM:601005 ORPHA:79102 ORPHA:51083 OMIM:611876 OMIM:616247 OMIM:616249 OMIM:618782 OMIM:611818 OMIM:613327 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:358 ORPHA:228346 ORPHA:137675 ORPHA:230 ORPHA:3464 OMIM:241080 OMIM:310200 OMIM:300376 OMIM:610198 ORPHA:66634 OMIM:620066 ORPHA:86309 OMIM:610193 ORPHA:268 OMIM:310300 OMIM:617047 OMIM:229300 ORPHA:308552 OMIM:232300 OMIM:614049 OMIM:615351 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:542306 ORPHA:373 OMIM:611777 ORPHA:263297 OMIM:613507 ORPHA:71212 OMIM:613123 OMIM:163800 OMIM:611174 OMIM:611528 OMIM:601214 OMIM:612240 OMIM:616399 ORPHA:90647 OMIM:612347 OMIM:613695 OMIM:613693 OMIM:613119 OMIM:609620 OMIM:170390 ORPHA:37553 OMIM:609622 ORPHA:251274 OMIM:613485 OMIM:607554 OMIM:220400 OMIM:192500 OMIM:609621 OMIM:312750 OMIM:255160 OMIM:608758 OMIM:608751 ORPHA:93400 OMIM:108900 ORPHA:1344 OMIM:615745 ORPHA:2151 OMIM:609040 ORPHA:94125 OMIM:600858 OMIM:261740 OMIM:194200 OMIM:615916 ORPHA:466650 OMIM:612838 OMIM:615378 OMIM:613120 OMIM:611819 OMIM:603830 OMIM:113900 OMIM:608567 OMIM:263800 OMIM:300352 OMIM:612955 ORPHA:1772 OMIM:619040 OMIM:616878 ORPHA:480864 OMIM:614021 ORPHA:99106 OMIM:604400 OMIM:613243 OMIM:616117 OMIM:601494 OMIM:604559 ORPHA:85451
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.