Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Cardiac conduction abnormality (HP:0031546)

Parent Node:
Heart block (HP:0012722)

..Starting node
..Bundle branch block (HP:0011710)

Term ID:

11710

Name:

Bundle branch block

Synonym:

Bundle-branch block

Definition:

Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.

Comments:

Reference:

HP:0011710

Genes and Diseases:

Child Nodes:

........

Right bundle branch block (HP:0011712)

........

Left bundle branch block (HP:0011713)

................... HP:0005172 Left posterior fascicular block
................... HP:0011711 Left anterior fascicular block

........

Trifascicular block (HP:0011715)

Sister Nodes:

Atrioventricular block (HP:0001678)

Sick sinus syndrome (HP:0011704)

Sinoatrial block (HP:0012723)

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:0011710	HP:0011710	Bundle branch block	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome		254
HP:0011710	HP:0011710	Bundle branch block	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0011710	HP:0011710	Bundle branch block	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011710	HP:0011710	Bundle branch block	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome		289
HP:0011710	HP:0011710	Bundle branch block	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0011710	HP:0011710	Bundle branch block	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0011710	HP:0011710	Bundle branch block	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011710	HP:0011710	Bundle branch block	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0011710	HP:0011710	Bundle branch block	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome		572
HP:0011710	HP:0011710	Bundle branch block	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome		59
HP:0011710	HP:0011710	Bundle branch block	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome		206
HP:0011710	HP:0011710	Bundle branch block	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0011710	HP:0011710	Bundle branch block	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0011710	HP:0011710	Bundle branch block	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0011710	HP:0011710	Bundle branch block	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0011710	HP:0011710	Bundle branch block	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13	.	98
HP:0011710	HP:0011710	Bundle branch block	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0011710	HP:0011710	Bundle branch block	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0011710	HP:0011710	Bundle branch block	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0011710	HP:0011710	Bundle branch block	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0011710	HP:0011710	Bundle branch block	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0011710	HP:0011710	Bundle branch block	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011710	HP:0011710	Bundle branch block	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011710	HP:0011710	Bundle branch block	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0011710	HP:0011710	Bundle branch block	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0011710	HP:0011710	Bundle branch block	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0011710	HP:0011710	Bundle branch block	0	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial		4
HP:0011710	HP:0011710	Bundle branch block	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0011710	HP:0011710	Bundle branch block	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0011710	HP:0011710	Bundle branch block	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome		97
HP:0011710	HP:0011710	Bundle branch block	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0011710	HP:0011710	Bundle branch block	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0011710	HP:0011710	Bundle branch block	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0011710	HP:0011710	Bundle branch block	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome		185
HP:0011710	HP:0011710	Bundle branch block	0	HCN4 CL E G H	10021	16882	OMIM:613123	BRUGADA SYNDROME 8; BRGDA8		185
HP:0011710	HP:0011710	Bundle branch block	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0011710	HP:0011710	Bundle branch block	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome		35
HP:0011710	HP:0011710	Bundle branch block	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome		73
HP:0011710	HP:0011710	Bundle branch block	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome		5
HP:0011710	HP:0011710	Bundle branch block	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome		23
HP:0011710	HP:0011710	Bundle branch block	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0011710	HP:0011710	Bundle branch block	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0011710	HP:0011710	Bundle branch block	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011710	HP:0011710	Bundle branch block	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011710	HP:0011710	Bundle branch block	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0011710	HP:0011710	Bundle branch block	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0011710	HP:0011710	Bundle branch block	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0011710	HP:0011710	Bundle branch block	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0011710	HP:0011710	Bundle branch block	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0011710	HP:0011710	Bundle branch block	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0011710	HP:0011710	Bundle branch block	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011710	HP:0011710	Bundle branch block	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0011710	HP:0011710	Bundle branch block	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0011710	HP:0011710	Bundle branch block	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0011710	HP:0011710	Bundle branch block	0	NKX2-5 CL E G H	1482	2488	ORPHA:1479	Atrial septal defect-atrioventricular conduction defects syndrome	HP:0040281 - Very frequent	90
HP:0011710	HP:0011710	Bundle branch block	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	90
HP:0011710	HP:0011710	Bundle branch block	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0011710	HP:0011710	Bundle branch block	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011710	HP:0011710	Bundle branch block	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome		406
HP:0011710	HP:0011710	Bundle branch block	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0011710	HP:0011710	Bundle branch block	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2		221
HP:0011710	HP:0011710	Bundle branch block	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0011710	HP:0011710	Bundle branch block	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011710	HP:0011710	Bundle branch block	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0011710	HP:0011710	Bundle branch block	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011710	HP:0011710	Bundle branch block	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011710	HP:0011710	Bundle branch block	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0011710	HP:0011710	Bundle branch block	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0011710	HP:0011710	Bundle branch block	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0011710	HP:0011710	Bundle branch block	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome		22
HP:0011710	HP:0011710	Bundle branch block	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		3
HP:0011710	HP:0011710	Bundle branch block	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome		146
HP:0011710	HP:0011710	Bundle branch block	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome		126
HP:0011710	HP:0011710	Bundle branch block	0	SCN1B CL E G H	6324	10586	OMIM:612838	BRUGADA SYNDROME 5; BRGDA5		126
HP:0011710	HP:0011710	Bundle branch block	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	126
HP:0011710	HP:0011710	Bundle branch block	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome		21
HP:0011710	HP:0011710	Bundle branch block	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome		122
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome		1134
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	1134
HP:0011710	HP:0011710	Bundle branch block	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0011710	HP:0011710	Bundle branch block	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome		67
HP:0011710	HP:0011710	Bundle branch block	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome		14
HP:0011710	HP:0011710	Bundle branch block	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome		18
HP:0011710	HP:0011710	Bundle branch block	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0011710	HP:0011710	Bundle branch block	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0011710	HP:0011710	Bundle branch block	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0011710	HP:0011710	Bundle branch block	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0011710	HP:0011710	Bundle branch block	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011710	HP:0011710	Bundle branch block	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0011710	HP:0011710	Bundle branch block	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome		124
HP:0011710	HP:0011710	Bundle branch block	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	124
HP:0011710	HP:0011710	Bundle branch block	0	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB		124
HP:0011710	HP:0011712	Right bundle branch block	1	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	254
HP:0011710	HP:0011715	Trifascicular block	1	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	254
HP:0011710	HP:0011713	Left bundle branch block	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011710	HP:0011712	Right bundle branch block	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011710	HP:0011712	Right bundle branch block	1	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	289
HP:0011710	HP:0011715	Trifascicular block	1	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	289
HP:0011710	HP:0011712	Right bundle branch block	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0011710	HP:0011712	Right bundle branch block	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0011710	HP:0011712	Right bundle branch block	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0011710	HP:0011712	Right bundle branch block	1	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	572
HP:0011710	HP:0011715	Trifascicular block	1	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	572
HP:0011710	HP:0011712	Right bundle branch block	1	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	59
HP:0011710	HP:0011715	Trifascicular block	1	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	59
HP:0011710	HP:0011712	Right bundle branch block	1	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	206
HP:0011710	HP:0011715	Trifascicular block	1	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	206
HP:0011710	HP:0011713	Left bundle branch block	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0011710	HP:0011712	Right bundle branch block	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0011710	HP:0011712	Right bundle branch block	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0011710	HP:0011713	Left bundle branch block	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0011710	HP:0011712	Right bundle branch block	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0011710	HP:0011712	Right bundle branch block	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0011710	HP:0011713	Left bundle branch block	1	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0011710	HP:0011712	Right bundle branch block	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0011710	HP:0011712	Right bundle branch block	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011710	HP:0011713	Left bundle branch block	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011710	HP:0011712	Right bundle branch block	1	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial	.	4
HP:0011710	HP:0011715	Trifascicular block	1	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	97
HP:0011710	HP:0011712	Right bundle branch block	1	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	97
HP:0011710	HP:0011712	Right bundle branch block	1	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0011710	HP:0011712	Right bundle branch block	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0011710	HP:0011712	Right bundle branch block	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV	.	18
HP:0011710	HP:0011715	Trifascicular block	1	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	185
HP:0011710	HP:0011712	Right bundle branch block	1	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	185
HP:0011710	HP:0011712	Right bundle branch block	1	HCN4 CL E G H	10021	16882	OMIM:613123	BRUGADA SYNDROME 8; BRGDA8		185
HP:0011710	HP:0011712	Right bundle branch block	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0011710	HP:0011715	Trifascicular block	1	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	35
HP:0011710	HP:0011712	Right bundle branch block	1	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	35
HP:0011710	HP:0011715	Trifascicular block	1	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	73
HP:0011710	HP:0011712	Right bundle branch block	1	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	73
HP:0011710	HP:0011715	Trifascicular block	1	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	5
HP:0011710	HP:0011712	Right bundle branch block	1	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	5
HP:0011710	HP:0011712	Right bundle branch block	1	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	23
HP:0011710	HP:0011715	Trifascicular block	1	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	23
HP:0011710	HP:0011712	Right bundle branch block	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0011710	HP:0011713	Left bundle branch block	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0011710	HP:0011712	Right bundle branch block	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011710	HP:0011713	Left bundle branch block	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011710	HP:0011712	Right bundle branch block	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0011710	HP:0011713	Left bundle branch block	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0011710	HP:0011712	Right bundle branch block	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0011710	HP:0011712	Right bundle branch block	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0011710	HP:0011712	Right bundle branch block	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent	1269
HP:0011710	HP:0011713	Left bundle branch block	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0011710	HP:0011712	Right bundle branch block	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011710	HP:0011713	Left bundle branch block	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0011710	HP:0011713	Left bundle branch block	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional	81
HP:0011710	HP:0011712	Right bundle branch block	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0011710	HP:0011712	Right bundle branch block	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011710	HP:0011712	Right bundle branch block	1	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	406
HP:0011710	HP:0011715	Trifascicular block	1	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	406
HP:0011710	HP:0011712	Right bundle branch block	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0011710	HP:0011712	Right bundle branch block	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	HP:0040283 - Occasional	221
HP:0011710	HP:0011712	Right bundle branch block	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0011710	HP:0011712	Right bundle branch block	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011710	HP:0011713	Left bundle branch block	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0011710	HP:0011713	Left bundle branch block	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011710	HP:0011713	Left bundle branch block	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011710	HP:0011712	Right bundle branch block	1	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	22
HP:0011710	HP:0011715	Trifascicular block	1	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	22
HP:0011710	HP:0011712	Right bundle branch block	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional	3
HP:0011710	HP:0011712	Right bundle branch block	1	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	146
HP:0011710	HP:0011715	Trifascicular block	1	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	146
HP:0011710	HP:0011715	Trifascicular block	1	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	126
HP:0011710	HP:0011712	Right bundle branch block	1	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	126
HP:0011710	HP:0011712	Right bundle branch block	1	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	21
HP:0011710	HP:0011715	Trifascicular block	1	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	21
HP:0011710	HP:0011712	Right bundle branch block	1	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	122
HP:0011710	HP:0011715	Trifascicular block	1	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	122
HP:0011710	HP:0011712	Right bundle branch block	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0011710	HP:0011712	Right bundle branch block	1	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	1134
HP:0011710	HP:0011715	Trifascicular block	1	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	1134
HP:0011710	HP:0011712	Right bundle branch block	1	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0011710	HP:0011712	Right bundle branch block	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0011710	HP:0011713	Left bundle branch block	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0011710	HP:0011713	Left bundle branch block	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0011710	HP:0011712	Right bundle branch block	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011710	HP:0011712	Right bundle branch block	1	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	67
HP:0011710	HP:0011715	Trifascicular block	1	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	67
HP:0011710	HP:0011715	Trifascicular block	1	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	14
HP:0011710	HP:0011712	Right bundle branch block	1	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	14
HP:0011710	HP:0011715	Trifascicular block	1	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	18
HP:0011710	HP:0011712	Right bundle branch block	1	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	18
HP:0011710	HP:0011712	Right bundle branch block	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0011710	HP:0011712	Right bundle branch block	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	HP:0040283 - Occasional	73
HP:0011710	HP:0011713	Left bundle branch block	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0011710	HP:0011712	Right bundle branch block	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy	.	1
HP:0011710	HP:0011713	Left bundle branch block	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011710	HP:0011712	Right bundle branch block	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0011710	HP:0011712	Right bundle branch block	1	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040282 - Frequent	124
HP:0011710	HP:0011715	Trifascicular block	1	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	124
HP:0011710	HP:0011713	Left bundle branch block	1	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB		124
HP:0011710	HP:0011712	Right bundle branch block	1	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124
HP:0011710	HP:0011711	Left anterior fascicular block	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011710	HP:0011711	Left anterior fascicular block	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011710	HP:0011711	Left anterior fascicular block	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011710	HP:0011711	Left anterior fascicular block	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0011710	HP:0005172	Left posterior fascicular block	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011710	HP:0011711	Left anterior fascicular block	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011710	HP:0011711	Left anterior fascicular block	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	HP:0040283 - Occasional	73
HP:0011710	HP:0011711	Left anterior fascicular block	2	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011710	HP:0011711	Left anterior fascicular block	2	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124

Genes (72) :ABCC9 ACTC1 AKAP9 ATP6V1A ATP6V1E1 BANF1 BRAF CACNA1C CACNA2D1 CACNB2 CDH2 CITED2 CNBP CTNNA3 CYTB DMPK DSG2 DYSF EXOSC5 FLNC GATA4 GATA6 GLA GNAI2 GPC3 GPC4 GPD1L GYG1 HCN4 JUP KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LDB3 LEMD2 LMNA LMOD2 MYBPC3 MYH6 MYH7 MYL2 MYOZ2 NKX2-5 NPPA PIGU PKP2 PLEC POMT2 PPP1CB PRKAG2 PSEN1 PSEN2 PTPN11 RAF1 RANGRF RNASEH1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TBX20 TLL1 TNNC1 TNNI3K TNNT2 TRPM4

Diseases (60) :ORPHA:130 ORPHA:99103 OMIM:612098 OMIM:617403 OMIM:617402 OMIM:614008 ORPHA:500 OMIM:618920 ORPHA:99105 OMIM:602668 OMIM:615616 ORPHA:137675 ORPHA:589821 OMIM:610193 OMIM:612877 ORPHA:268 OMIM:619576 OMIM:617047 ORPHA:324 OMIM:192605 ORPHA:373 OMIM:611777 ORPHA:263297 OMIM:613507 OMIM:613123 OMIM:601214 OMIM:615344 OMIM:601493 OMIM:619322 OMIM:181350 OMIM:619897 OMIM:115197 OMIM:613251 ORPHA:1880 ORPHA:437572 OMIM:255160 OMIM:608758 OMIM:613838 ORPHA:1479 ORPHA:871 ORPHA:1344 OMIM:618590 ORPHA:254361 OMIM:613158 ORPHA:206559 OMIM:617506 OMIM:600858 OMIM:613694 OMIM:613697 OMIM:151100 OMIM:616479 OMIM:612838 OMIM:601144 OMIM:601154 OMIM:113900 ORPHA:99106 OMIM:613243 OMIM:616117 OMIM:115195 OMIM:604559

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

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