Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome		254
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome		289
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome		289
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related		539
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome		539
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome		572
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome		572
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome		59
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome		206
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome		18
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome		13
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome		16
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome		148
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia		7
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome		97
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome		185
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome		35
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome		148
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome		43
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome		73
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome		5
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome		901
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome		128
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome		23
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome		730
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation		645
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type	HP:0040281 - Very frequent	645
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MYH6 CL E G H	4624	7576	OMIM:614090	SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3		452
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome		4
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome		406
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome		22
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome		146
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome		146
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome		126
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome		21
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome		122
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome		110
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome		1134
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome		1134
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome		67
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome		14
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia		2
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome		18
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome		118
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome		123
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome		145
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome		124
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0011702	HP:0011702	Abnormal electrophysiology of sinoatrial node origin	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0011702	HP:0011703	Sinus tachycardia	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0011702	HP:0011704	Sick sinus syndrome	1	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	254
HP:0011702	HP:0011704	Sick sinus syndrome	1	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	289
HP:0011702	HP:0001688	Sinus bradycardia	1	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	289
HP:0011702	HP:0001688	Sinus bradycardia	1	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0011702	HP:0001688	Sinus bradycardia	1	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	539
HP:0011702	HP:0011703	Sinus tachycardia	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0011702	HP:0011703	Sinus tachycardia	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0011702	HP:0001688	Sinus bradycardia	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0011702	HP:0011704	Sick sinus syndrome	1	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	572
HP:0011702	HP:0001688	Sinus bradycardia	1	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0011702	HP:0001688	Sinus bradycardia	1	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	572
HP:0011702	HP:0011704	Sick sinus syndrome	1	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	59
HP:0011702	HP:0011704	Sick sinus syndrome	1	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	206
HP:0011702	HP:0001688	Sinus bradycardia	1	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	18
HP:0011702	HP:0001688	Sinus bradycardia	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0011702	HP:0001688	Sinus bradycardia	1	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	13
HP:0011702	HP:0001688	Sinus bradycardia	1	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	16
HP:0011702	HP:0011704	Sick sinus syndrome	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0011702	HP:0001688	Sinus bradycardia	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9	HP:0040283 - Occasional	148
HP:0011702	HP:0001688	Sinus bradycardia	1	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	148
HP:0011702	HP:0011703	Sinus tachycardia	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011702	HP:0011703	Sinus tachycardia	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0011702	HP:0011703	Sinus tachycardia	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0011702	HP:0011703	Sinus tachycardia	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0011702	HP:0011703	Sinus tachycardia	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0011702	HP:0012723	Sinoatrial block	1	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0011702	HP:0001688	Sinus bradycardia	1	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0011702	HP:0011704	Sick sinus syndrome	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent	7
HP:0011702	HP:0011704	Sick sinus syndrome	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.	7
HP:0011702	HP:0011704	Sick sinus syndrome	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	HP:0040283 - Occasional	7
HP:0011702	HP:0011704	Sick sinus syndrome	1	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	97
HP:0011702	HP:0011704	Sick sinus syndrome	1	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	185
HP:0011702	HP:0001688	Sinus bradycardia	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0011702	HP:0011704	Sick sinus syndrome	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0011702	HP:0001688	Sinus bradycardia	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0011702	HP:0011704	Sick sinus syndrome	1	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	35
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	148
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	43
HP:0011702	HP:0011704	Sick sinus syndrome	1	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	73
HP:0011702	HP:0011704	Sick sinus syndrome	1	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	5
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	901
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	128
HP:0011702	HP:0011704	Sick sinus syndrome	1	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	23
HP:0011702	HP:0001688	Sinus bradycardia	1	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	730
HP:0011702	HP:0011703	Sinus tachycardia	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0011702	HP:0001688	Sinus bradycardia	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0011702	HP:0012723	Sinoatrial block	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040283 - Occasional	645
HP:0011702	HP:0011703	Sinus tachycardia	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0011702	HP:0011703	Sinus tachycardia	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0011702	HP:0011704	Sick sinus syndrome	1	MYH6 CL E G H	4624	7576	OMIM:614090	SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3		452
HP:0011702	HP:0011703	Sinus tachycardia	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011702	HP:0001688	Sinus bradycardia	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011702	HP:0011703	Sinus tachycardia	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0011702	HP:0011703	Sinus tachycardia	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0011702	HP:0001688	Sinus bradycardia	1	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	4
HP:0011702	HP:0011704	Sick sinus syndrome	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0011702	HP:0011703	Sinus tachycardia	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0011702	HP:0011704	Sick sinus syndrome	1	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	406
HP:0011702	HP:0001688	Sinus bradycardia	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0011702	HP:0011704	Sick sinus syndrome	1	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	22
HP:0011702	HP:0011703	Sinus tachycardia	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0011702	HP:0011703	Sinus tachycardia	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0011702	HP:0011703	Sinus tachycardia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0011702	HP:0011704	Sick sinus syndrome	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	146
HP:0011702	HP:0001688	Sinus bradycardia	1	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	146
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	126
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	21
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	122
HP:0011702	HP:0001688	Sinus bradycardia	1	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	110
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	1134
HP:0011702	HP:0001688	Sinus bradycardia	1	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	1134
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0011702	HP:0001688	Sinus bradycardia	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0011702	HP:0011704	Sick sinus syndrome	1	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	67
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0011702	HP:0011703	Sinus tachycardia	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0011702	HP:0011704	Sick sinus syndrome	1	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	14
HP:0011702	HP:0011704	Sick sinus syndrome	1	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	.	2
HP:0011702	HP:0011703	Sinus tachycardia	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011702	HP:0011704	Sick sinus syndrome	1	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	18
HP:0011702	HP:0001688	Sinus bradycardia	1	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	118
HP:0011702	HP:0001688	Sinus bradycardia	1	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	123
HP:0011702	HP:0011703	Sinus tachycardia	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0011702	HP:0001688	Sinus bradycardia	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy	.	1
HP:0011702	HP:0001688	Sinus bradycardia	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0011702	HP:0011703	Sinus tachycardia	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0011702	HP:0011703	Sinus tachycardia	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0011702	HP:0001688	Sinus bradycardia	1	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	145
HP:0011702	HP:0011704	Sick sinus syndrome	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0011702	HP:0011704	Sick sinus syndrome	1	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	124
HP:0011702	HP:0011703	Sinus tachycardia	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0011702	HP:0011703	Sinus tachycardia	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0011702	HP:0040182	Inappropriate sinus tachycardia	2	CL E G H