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:
Abnormal atrioventricular conduction (HP:0005150)

Parent Node:
Heart block (HP:0012722)

..Starting node
..Atrioventricular block (HP:0001678)

Term ID:

1678

Name:

Atrioventricular block

Synonym:

Atrioventricular nodal disease; Interruption of electrical communication between upper and lower chambers of heart

Definition:

Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.

Comments:

Reference:

HP:0001678

Genes and Diseases:

Child Nodes:

........

Third degree atrioventricular block (HP:0001709)

................... HP:0005170 Complete heart block with broad QRS complexes
................... HP:0005178 Complete heart block with narrow QRS complexes

........

Absent atrioventricular node (HP:0006681)

........

First degree atrioventricular block (HP:0011705)

........

Second degree atrioventricular block (HP:0011706)

................... HP:0011707 Mobitz I atrioventricular block
................... HP:0011708 Mobitz II atrioventricular block

Sister Nodes:

Bundle branch block (HP:0011710)

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:0001678	HP:0001678	Atrioventricular block	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome		254
HP:0001678	HP:0001678	Atrioventricular block	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0001678	HP:0001678	Atrioventricular block	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0001678	HP:0001678	Atrioventricular block	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional	307
HP:0001678	HP:0001678	Atrioventricular block	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0001678	HP:0001678	Atrioventricular block	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome		289
HP:0001678	HP:0001678	Atrioventricular block	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0001678	HP:0001678	Atrioventricular block	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.	2
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome		572
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome		59
HP:0001678	HP:0001678	Atrioventricular block	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	59
HP:0001678	HP:0001678	Atrioventricular block	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome		206
HP:0001678	HP:0001678	Atrioventricular block	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0001678	HP:0001678	Atrioventricular block	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0001678	HP:0001678	Atrioventricular block	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001678	HP:0001678	Atrioventricular block	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:0001678	HP:0001678	Atrioventricular block	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0001678	HP:0001678	Atrioventricular block	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0001678	HP:0001678	Atrioventricular block	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0001678	HP:0001678	Atrioventricular block	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0001678	HP:0001678	Atrioventricular block	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0001678	HP:0001678	Atrioventricular block	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001678	HP:0001678	Atrioventricular block	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0001678	HP:0001678	Atrioventricular block	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0001678	HP:0001678	Atrioventricular block	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0001678	HP:0001678	Atrioventricular block	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0001678	HP:0001678	Atrioventricular block	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001678	HP:0001678	Atrioventricular block	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0001678	HP:0001678	Atrioventricular block	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0001678	HP:0001678	Atrioventricular block	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	107
HP:0001678	HP:0001678	Atrioventricular block	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	68
HP:0001678	HP:0001678	Atrioventricular block	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0001678	HP:0001678	Atrioventricular block	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001678	HP:0001678	Atrioventricular block	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0001678	HP:0001678	Atrioventricular block	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0001678	HP:0001678	Atrioventricular block	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0001678	HP:0001678	Atrioventricular block	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0001678	HP:0001678	Atrioventricular block	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0001678	HP:0001678	Atrioventricular block	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0001678	HP:0001678	Atrioventricular block	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome		97
HP:0001678	HP:0001678	Atrioventricular block	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0001678	HP:0001678	Atrioventricular block	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0001678	HP:0001678	Atrioventricular block	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0001678	HP:0001678	Atrioventricular block	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome		185
HP:0001678	HP:0001678	Atrioventricular block	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome		35
HP:0001678	HP:0001678	Atrioventricular block	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome		73
HP:0001678	HP:0001678	Atrioventricular block	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome		5
HP:0001678	HP:0001678	Atrioventricular block	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	901
HP:0001678	HP:0001678	Atrioventricular block	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0001678	HP:0001678	Atrioventricular block	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	193
HP:0001678	HP:0001678	Atrioventricular block	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.	128
HP:0001678	HP:0001678	Atrioventricular block	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome		23
HP:0001678	HP:0001678	Atrioventricular block	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0001678	HP:0001678	Atrioventricular block	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	730
HP:0001678	HP:0001678	Atrioventricular block	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	645
HP:0001678	HP:0001678	Atrioventricular block	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001678	HP:0001678	Atrioventricular block	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001678	HP:0001678	Atrioventricular block	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001678	HP:0001678	Atrioventricular block	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001678	HP:0001678	Atrioventricular block	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001678	HP:0001678	Atrioventricular block	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0001678	HP:0001678	Atrioventricular block	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0001678	HP:0001678	Atrioventricular block	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0001678	HP:0001678	Atrioventricular block	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0001678	HP:0001678	Atrioventricular block	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0001678	HP:0001678	Atrioventricular block	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0001678	HP:0001678	Atrioventricular block	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome		406
HP:0001678	HP:0001678	Atrioventricular block	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001678	HP:0001678	Atrioventricular block	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001678	HP:0001678	Atrioventricular block	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0001678	HP:0001678	Atrioventricular block	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0001678	HP:0001678	Atrioventricular block	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0001678	HP:0001678	Atrioventricular block	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome		22
HP:0001678	HP:0001678	Atrioventricular block	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome		125
HP:0001678	HP:0001678	Atrioventricular block	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:0001678	HP:0001678	Atrioventricular block	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome		146
HP:0001678	HP:0001678	Atrioventricular block	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome		126
HP:0001678	HP:0001678	Atrioventricular block	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome		21
HP:0001678	HP:0001678	Atrioventricular block	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome		122
HP:0001678	HP:0001678	Atrioventricular block	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0001678	HP:0001678	Atrioventricular block	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0001678	HP:0001678	Atrioventricular block	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome		1134
HP:0001678	HP:0001678	Atrioventricular block	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0001678	HP:0001678	Atrioventricular block	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0001678	HP:0001678	Atrioventricular block	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0001678	HP:0001678	Atrioventricular block	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome		67
HP:0001678	HP:0001678	Atrioventricular block	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome		14
HP:0001678	HP:0001678	Atrioventricular block	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0001678	HP:0001678	Atrioventricular block	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	7
HP:0001678	HP:0001678	Atrioventricular block	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome		18
HP:0001678	HP:0001678	Atrioventricular block	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	1129
HP:0001678	HP:0001678	Atrioventricular block	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	508
HP:0001678	HP:0001678	Atrioventricular block	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0001678	HP:0001678	Atrioventricular block	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0001678	HP:0001678	Atrioventricular block	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0001678	HP:0001678	Atrioventricular block	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0001678	HP:0001678	Atrioventricular block	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	171
HP:0001678	HP:0001678	Atrioventricular block	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:0001678	HP:0001678	Atrioventricular block	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0001678	HP:0001678	Atrioventricular block	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome		124
HP:0001678	HP:0001678	Atrioventricular block	0	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124
HP:0001678	HP:0001678	Atrioventricular block	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0001678	HP:0001678	Atrioventricular block	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0001678	HP:0006681	Absent atrioventricular node	1	CL E G H
HP:0001678	HP:0011705	First degree atrioventricular block	1	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	254
HP:0001678	HP:0011705	First degree atrioventricular block	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0001678	HP:0011705	First degree atrioventricular block	1	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	289
HP:0001678	HP:0001709	Third degree atrioventricular block	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0001678	HP:0011706	Second degree atrioventricular block	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0001678	HP:0011705	First degree atrioventricular block	1	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	572
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	247
HP:0001678	HP:0011705	First degree atrioventricular block	1	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	59
HP:0001678	HP:0011705	First degree atrioventricular block	1	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	206
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001678	HP:0011706	Second degree atrioventricular block	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0001678	HP:0011705	First degree atrioventricular block	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0001678	HP:0011705	First degree atrioventricular block	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0001678	HP:0011705	First degree atrioventricular block	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0001678	HP:0001709	Third degree atrioventricular block	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001678	HP:0001709	Third degree atrioventricular block	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0001678	HP:0011705	First degree atrioventricular block	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0001678	HP:0011705	First degree atrioventricular block	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0001678	HP:0011705	First degree atrioventricular block	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001678	HP:0011705	First degree atrioventricular block	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0001678	HP:0011705	First degree atrioventricular block	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0001678	HP:0011706	Second degree atrioventricular block	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional
HP:0001678	HP:0011705	First degree atrioventricular block	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0001678	HP:0011705	First degree atrioventricular block	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0001678	HP:0011705	First degree atrioventricular block	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0001678	HP:0011705	First degree atrioventricular block	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0001678	HP:0011705	First degree atrioventricular block	1	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	97
HP:0001678	HP:0011705	First degree atrioventricular block	1	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0001678	HP:0001709	Third degree atrioventricular block	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0001678	HP:0011705	First degree atrioventricular block	1	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	185
HP:0001678	HP:0011705	First degree atrioventricular block	1	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	35
HP:0001678	HP:0011705	First degree atrioventricular block	1	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	73
HP:0001678	HP:0011705	First degree atrioventricular block	1	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	5
HP:0001678	HP:0011706	Second degree atrioventricular block	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	10
HP:0001678	HP:0011705	First degree atrioventricular block	1	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	23
HP:0001678	HP:0011705	First degree atrioventricular block	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0001678	HP:0011705	First degree atrioventricular block	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001678	HP:0011706	Second degree atrioventricular block	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001678	HP:0001709	Third degree atrioventricular block	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001678	HP:0011705	First degree atrioventricular block	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001678	HP:0011705	First degree atrioventricular block	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0001678	HP:0011705	First degree atrioventricular block	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0001678	HP:0011705	First degree atrioventricular block	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0001678	HP:0001709	Third degree atrioventricular block	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0001678	HP:0011705	First degree atrioventricular block	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0001678	HP:0011705	First degree atrioventricular block	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0001678	HP:0011706	Second degree atrioventricular block	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0001678	HP:0011705	First degree atrioventricular block	1	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	406
HP:0001678	HP:0001709	Third degree atrioventricular block	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001678	HP:0011705	First degree atrioventricular block	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0001678	HP:0011705	First degree atrioventricular block	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0001678	HP:0001709	Third degree atrioventricular block	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001678	HP:0011705	First degree atrioventricular block	1	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	22
HP:0001678	HP:0001709	Third degree atrioventricular block	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent	125
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	146
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	126
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	21
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	122
HP:0001678	HP:0011706	Second degree atrioventricular block	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	1134
HP:0001678	HP:0001709	Third degree atrioventricular block	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0001678	HP:0011705	First degree atrioventricular block	1	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	67
HP:0001678	HP:0011705	First degree atrioventricular block	1	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	14
HP:0001678	HP:0011705	First degree atrioventricular block	1	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	18
HP:0001678	HP:0011705	First degree atrioventricular block	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0001678	HP:0011705	First degree atrioventricular block	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0001678	HP:0011705	First degree atrioventricular block	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0001678	HP:0011705	First degree atrioventricular block	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0001678	HP:0001709	Third degree atrioventricular block	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0001678	HP:0011705	First degree atrioventricular block	1	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	124
HP:0001678	HP:0005178	Complete heart block with narrow QRS complexes	2	CL E G H
HP:0001678	HP:0011708	Mobitz II atrioventricular block	2	CL E G H
HP:0001678	HP:0034305	2:1 atrioventricular block	2	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0001678	HP:0034305	2:1 atrioventricular block	2	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0001678	HP:0011707	Mobitz I atrioventricular block	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0001678	HP:0011707	Mobitz I atrioventricular block	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0001678	HP:0005170	Complete heart block with broad QRS complexes	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134

Genes (90) :ABCC9 ACADVL ACTC1 ACTN2 AGXT AKAP9 ATP8 BVES CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CDC45 CITED2 CTNNA3 CYTB DEF6 DES DMPK DOHH DTNA EMD FHL1 FLNC GABRA3 GATA4 GATA6 GJA1 GJA5 GLA GNB2 GPD1L GPX4 GRIN1 HCN4 KCND3 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 LMNA MMP14 MMP2 MYBPC3 MYH6 MYL4 MYPN NKX2-5 NPPA PKP2 PRKAG2 PRKG2 PSEN1 PSEN2 PTPN11 RANGRF RRM2B RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SLC25A20 SLC4A3 SLMAP SYNE1 SYNE2 TBX20 TBX5 TLL1 TMEM43 TRDN TRNL1 TRPM4 TTN TTR

Diseases (62) :ORPHA:130 ORPHA:26793 ORPHA:99103 OMIM:612158 OMIM:259900 ORPHA:480 OMIM:616812 OMIM:615474 ORPHA:369929 ORPHA:79102 ORPHA:51083 OMIM:616247 OMIM:616249 OMIM:618782 OMIM:604772 OMIM:617063 ORPHA:99105 OMIM:615616 ORPHA:137675 OMIM:619573 ORPHA:98909 OMIM:601419 ORPHA:589821 OMIM:160900 OMIM:620066 OMIM:604169 OMIM:310300 ORPHA:98863 OMIM:617047 OMIM:600309 OMIM:108770 ORPHA:324 OMIM:619464 OMIM:611777 ORPHA:93317 OMIM:619814 OMIM:613485 OMIM:615344 ORPHA:98853 ORPHA:98855 OMIM:115200 OMIM:181350 ORPHA:371428 OMIM:115197 OMIM:617280 OMIM:617336 ORPHA:1344 OMIM:600858 OMIM:619636 OMIM:613694 OMIM:613697 OMIM:151100 OMIM:611819 OMIM:601154 OMIM:113900 OMIM:608567 OMIM:212138 ORPHA:392 ORPHA:99106 OMIM:604559 OMIM:604145 ORPHA:85447

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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