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:
Supraventricular arrhythmia (HP:0005115)

Parent Node:
Atrial arrhythmia (HP:0001692)

..Starting node
..Atrial fibrillation (HP:0005110)

Term ID:

5110

Name:

Atrial fibrillation

Synonym:

Quivering upper heart chambers resulting in irregular heartbeat

Definition:

An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.

Comments:

Reference:

HP:0005110

Genes and Diseases:

Child Nodes:

........

Permanent atrial fibrillation (HP:0004754)

........

Paroxysmal atrial fibrillation (HP:0004757)

Sister Nodes:

Atrial flutter (HP:0004749)

Atrial reentry tachycardia (HP:0011699)

Automatic atrial tachycardia (HP:0011700)

Chaotic multifocal atrial tachycardia (HP:0011725)

Multifocal atrial tachycardia (HP:0011701)

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:0005110	HP:0005110	Atrial fibrillation	0	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12		254
HP:0005110	HP:0005110	Atrial fibrillation	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0005110	HP:0005110	Atrial fibrillation	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional	307
HP:0005110	HP:0005110	Atrial fibrillation	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0005110	HP:0005110	Atrial fibrillation	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0005110	HP:0005110	Atrial fibrillation	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0005110	HP:0005110	Atrial fibrillation	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	59
HP:0005110	HP:0005110	Atrial fibrillation	0	CACNB2 CL E G H	783	1402	OMIM:611876	BRUGADA SYNDROME 4; BRGDA4		206
HP:0005110	HP:0005110	Atrial fibrillation	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:0005110	HP:0005110	Atrial fibrillation	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0005110	HP:0005110	Atrial fibrillation	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0005110	HP:0005110	Atrial fibrillation	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0005110	HP:0005110	Atrial fibrillation	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0005110	HP:0005110	Atrial fibrillation	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0005110	HP:0005110	Atrial fibrillation	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0005110	HP:0005110	Atrial fibrillation	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0005110	HP:0005110	Atrial fibrillation	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0005110	HP:0005110	Atrial fibrillation	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0005110	HP:0005110	Atrial fibrillation	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26	HP:0040283 - Occasional	197
HP:0005110	HP:0005110	Atrial fibrillation	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	197
HP:0005110	HP:0005110	Atrial fibrillation	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0005110	HP:0005110	Atrial fibrillation	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0005110	HP:0005110	Atrial fibrillation	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0005110	HP:0005110	Atrial fibrillation	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B	HP:0040283 - Occasional	35
HP:0005110	HP:0005110	Atrial fibrillation	0	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11	.	39
HP:0005110	HP:0005110	Atrial fibrillation	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0005110	HP:0005110	Atrial fibrillation	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0005110	HP:0005110	Atrial fibrillation	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	901
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	193
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.	128
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3	.	730
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	730
HP:0005110	HP:0005110	Atrial fibrillation	0	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2		730
HP:0005110	HP:0005110	Atrial fibrillation	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0005110	HP:0005110	Atrial fibrillation	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0005110	HP:0005110	Atrial fibrillation	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040282 - Frequent	645
HP:0005110	HP:0005110	Atrial fibrillation	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0005110	HP:0005110	Atrial fibrillation	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0005110	HP:0005110	Atrial fibrillation	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0005110	HP:0005110	Atrial fibrillation	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent	1269
HP:0005110	HP:0005110	Atrial fibrillation	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0005110	HP:0005110	Atrial fibrillation	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional	81
HP:0005110	HP:0005110	Atrial fibrillation	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional	217
HP:0005110	HP:0005110	Atrial fibrillation	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	217
HP:0005110	HP:0005110	Atrial fibrillation	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20	HP:0040283 - Occasional	167
HP:0005110	HP:0005110	Atrial fibrillation	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0005110	HP:0005110	Atrial fibrillation	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0005110	HP:0005110	Atrial fibrillation	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6	.	13
HP:0005110	HP:0005110	Atrial fibrillation	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15	.	1
HP:0005110	HP:0005110	Atrial fibrillation	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.	57
HP:0005110	HP:0005110	Atrial fibrillation	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0005110	HP:0005110	Atrial fibrillation	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0005110	HP:0005110	Atrial fibrillation	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0005110	HP:0005110	Atrial fibrillation	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0005110	HP:0005110	Atrial fibrillation	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0005110	HP:0005110	Atrial fibrillation	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0005110	HP:0005110	Atrial fibrillation	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:0005110	HP:0005110	Atrial fibrillation	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10	HP:0040283 - Occasional	110
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0005110	HP:0005110	Atrial fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0005110	HP:0005110	Atrial fibrillation	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	HP:0040283 - Occasional	2
HP:0005110	HP:0005110	Atrial fibrillation	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0005110	HP:0005110	Atrial fibrillation	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	7
HP:0005110	HP:0005110	Atrial fibrillation	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0005110	HP:0005110	Atrial fibrillation	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0005110	HP:0005110	Atrial fibrillation	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0005110	HP:0005110	Atrial fibrillation	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0005110	HP:0005110	Atrial fibrillation	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0005110	HP:0005110	Atrial fibrillation	0	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	HP:0040283 - Occasional	6
HP:0005110	HP:0005110	Atrial fibrillation	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0005110	HP:0005110	Atrial fibrillation	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0005110	HP:0005110	Atrial fibrillation	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	HP:0040283 - Occasional	73
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7	HP:0040283 - Occasional	180
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	180
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy	.	1
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0005110	HP:0005110	Atrial fibrillation	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	248
HP:0005110	HP:0005110	Atrial fibrillation	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0005110	HP:0005110	Atrial fibrillation	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:0005110	HP:0005110	Atrial fibrillation	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0005110	HP:0005110	Atrial fibrillation	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0005110	HP:0005110	Atrial fibrillation	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12	.	254
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	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:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.	104
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9	.	193
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18	HP:0040283 - Occasional	2
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18	HP:0040283 - Occasional	2
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	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:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	.	126
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	.	1134
HP:0005110	HP:0004754	Permanent atrial fibrillation	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0005110	HP:0004757	Paroxysmal atrial fibrillation	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

Genes (74) :ABCC9 ACTC1 ACTN2 ANK2 APRT CACNA1C CACNA2D1 CACNB2 CASQ2 CAVIN1 CITED2 CSRP3 CYTB DBH DMPK DTNA FHOD3 FLNC GATA4 GATA5 GATA6 GATAD1 GJA5 GNB2 HCN4 KCNA5 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 KIF20A LMNA LRP12 MFAP5 MYH6 MYH7 MYL4 MYOZ2 MYPN NEXN NKX2-5 NPPA NUP155 PLN POLG POLG2 PRKAG2 PSEN2 RRM2B RYR2 SCN1B SCN2B SCN3B SCN4B SCN5A SGO1 SLC25A4 SLC4A3 SMAD3 TAB2 TBX20 TBX5 TLL1 TMEM43 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN TTN TWNK XK

Diseases (71) :OMIM:614050 ORPHA:99103 OMIM:612158 OMIM:600919 ORPHA:976 OMIM:611875 ORPHA:51083 OMIM:611876 OMIM:604772 OMIM:613327 ORPHA:99105 OMIM:612124 ORPHA:137675 OMIM:223360 OMIM:160900 OMIM:604169 OMIM:619402 OMIM:617047 ORPHA:75249 OMIM:617912 OMIM:614672 OMIM:614049 OMIM:108770 OMIM:619464 OMIM:163800 OMIM:612240 OMIM:611493 OMIM:609620 OMIM:613980 OMIM:613485 OMIM:607554 OMIM:609621 OMIM:115200 ORPHA:300751 OMIM:164310 OMIM:616166 ORPHA:1880 OMIM:617280 OMIM:613838 OMIM:615248 OMIM:613876 OMIM:108900 OMIM:612201 OMIM:615770 OMIM:613874 ORPHA:254892 OMIM:600858 OMIM:194200 OMIM:613697 OMIM:615377 OMIM:615378 OMIM:613120 OMIM:611819 OMIM:614022 OMIM:601144 OMIM:601154 OMIM:616201 ORPHA:284984 OMIM:613795 OMIM:614980 ORPHA:392 OMIM:613087 ORPHA:99106 OMIM:614302 OMIM:613243 OMIM:613690 OMIM:616117 OMIM:115195 OMIM:611878 OMIM:604145 OMIM:300842

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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