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:
Arrhythmia (HP:0011675)

Parent Node:
Cardiac arrest (HP:0001695)

..Starting node
..Sudden cardiac death (HP:0001645)

Term ID:

1645

Name:

Sudden cardiac death

Synonym:

Premature sudden cardiac death; Sudden cardiac death

Definition:

The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).

Comments:

Reference:

HP:0001645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aborted sudden cardiac death (HP:0031628)

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:0001645	HP:0001645	Sudden cardiac death	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional	130
HP:0001645	HP:0001645	Sudden cardiac death	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001645	HP:0001645	Sudden cardiac death	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001645	HP:0001645	Sudden cardiac death	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001645	HP:0001645	Sudden cardiac death	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional	98
HP:0001645	HP:0001645	Sudden cardiac death	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.	200
HP:0001645	HP:0001645	Sudden cardiac death	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	289
HP:0001645	HP:0001645	Sudden cardiac death	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001645	HP:0001645	Sudden cardiac death	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.	3
HP:0001645	HP:0001645	Sudden cardiac death	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0001645	HP:0001645	Sudden cardiac death	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	539
HP:0001645	HP:0001645	Sudden cardiac death	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001645	HP:0001645	Sudden cardiac death	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0001645	HP:0001645	Sudden cardiac death	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0001645	HP:0001645	Sudden cardiac death	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	572
HP:0001645	HP:0001645	Sudden cardiac death	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	59
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	18
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	18
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	13
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	13
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	16
HP:0001645	HP:0001645	Sudden cardiac death	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	16
HP:0001645	HP:0001645	Sudden cardiac death	0	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	129
HP:0001645	HP:0001645	Sudden cardiac death	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:0001645	HP:0001645	Sudden cardiac death	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0001645	HP:0001645	Sudden cardiac death	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0001645	HP:0001645	Sudden cardiac death	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional	99
HP:0001645	HP:0001645	Sudden cardiac death	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0001645	HP:0001645	Sudden cardiac death	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.	104
HP:0001645	HP:0001645	Sudden cardiac death	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0001645	HP:0001645	Sudden cardiac death	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0001645	HP:0001645	Sudden cardiac death	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0001645	HP:0001645	Sudden cardiac death	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0001645	HP:0001645	Sudden cardiac death	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0001645	HP:0001645	Sudden cardiac death	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0001645	HP:0001645	Sudden cardiac death	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0001645	HP:0001645	Sudden cardiac death	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001645	HP:0001645	Sudden cardiac death	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0001645	HP:0001645	Sudden cardiac death	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	107
HP:0001645	HP:0001645	Sudden cardiac death	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001645	HP:0001645	Sudden cardiac death	0	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J		111
HP:0001645	HP:0001645	Sudden cardiac death	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	68
HP:0001645	HP:0001645	Sudden cardiac death	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001645	HP:0001645	Sudden cardiac death	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0001645	HP:0001645	Sudden cardiac death	0	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial	.	4
HP:0001645	HP:0001645	Sudden cardiac death	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0001645	HP:0001645	Sudden cardiac death	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001645	HP:0001645	Sudden cardiac death	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001645	HP:0001645	Sudden cardiac death	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001645	HP:0001645	Sudden cardiac death	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001645	HP:0001645	Sudden cardiac death	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0001645	HP:0001645	Sudden cardiac death	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001645	HP:0001645	Sudden cardiac death	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0001645	HP:0001645	Sudden cardiac death	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0001645	HP:0001645	Sudden cardiac death	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040283 - Occasional	222
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	148
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	.	148
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6	.	43
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	43
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	901
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	.	901
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	901
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	193
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	128
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	730
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.	730
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	730
HP:0001645	HP:0001645	Sudden cardiac death	0	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2		730
HP:0001645	HP:0001645	Sudden cardiac death	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional	286
HP:0001645	HP:0001645	Sudden cardiac death	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001645	HP:0001645	Sudden cardiac death	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001645	HP:0001645	Sudden cardiac death	0	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46		1
HP:0001645	HP:0001645	Sudden cardiac death	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0001645	HP:0001645	Sudden cardiac death	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001645	HP:0001645	Sudden cardiac death	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001645	HP:0001645	Sudden cardiac death	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0001645	HP:0001645	Sudden cardiac death	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:0001645	HP:0001645	Sudden cardiac death	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0001645	HP:0001645	Sudden cardiac death	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001645	HP:0001645	Sudden cardiac death	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001645	HP:0001645	Sudden cardiac death	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0001645	HP:0001645	Sudden cardiac death	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001645	HP:0001645	Sudden cardiac death	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0001645	HP:0001645	Sudden cardiac death	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	HP:0040283 - Occasional	131
HP:0001645	HP:0001645	Sudden cardiac death	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0001645	HP:0001645	Sudden cardiac death	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0001645	HP:0001645	Sudden cardiac death	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001645	HP:0001645	Sudden cardiac death	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	4
HP:0001645	HP:0001645	Sudden cardiac death	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15		1
HP:0001645	HP:0001645	Sudden cardiac death	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001645	HP:0001645	Sudden cardiac death	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001645	HP:0001645	Sudden cardiac death	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001645	HP:0001645	Sudden cardiac death	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0001645	HP:0001645	Sudden cardiac death	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0001645	HP:0001645	Sudden cardiac death	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0001645	HP:0001645	Sudden cardiac death	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001645	HP:0001645	Sudden cardiac death	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001645	HP:0001645	Sudden cardiac death	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd	.	363
HP:0001645	HP:0001645	Sudden cardiac death	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0001645	HP:0001645	Sudden cardiac death	0	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	1103
HP:0001645	HP:0001645	Sudden cardiac death	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:0001645	HP:0001645	Sudden cardiac death	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	146
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	110
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	.	1134
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0001645	HP:0001645	Sudden cardiac death	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	1134
HP:0001645	HP:0001645	Sudden cardiac death	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0001645	HP:0001645	Sudden cardiac death	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	7
HP:0001645	HP:0001645	Sudden cardiac death	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	118
HP:0001645	HP:0001645	Sudden cardiac death	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0001645	HP:0001645	Sudden cardiac death	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0001645	HP:0001645	Sudden cardiac death	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	123
HP:0001645	HP:0001645	Sudden cardiac death	0	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	4
HP:0001645	HP:0001645	Sudden cardiac death	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.	85
HP:0001645	HP:0001645	Sudden cardiac death	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0001645	HP:0001645	Sudden cardiac death	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171
HP:0001645	HP:0001645	Sudden cardiac death	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0001645	HP:0001645	Sudden cardiac death	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0001645	HP:0001645	Sudden cardiac death	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0001645	HP:0001645	Sudden cardiac death	0	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3		230
HP:0001645	HP:0001645	Sudden cardiac death	0	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040283 - Occasional	145
HP:0001645	HP:0001645	Sudden cardiac death	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	145
HP:0001645	HP:0001645	Sudden cardiac death	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:0001645	HP:0001645	Sudden cardiac death	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001645	HP:0001645	Sudden cardiac death	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001645	HP:0001645	Sudden cardiac death	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6

Genes (109) :ABCA12 ABCC6 ABCG5 ABCG8 ACAD9 ACADVL AKAP9 AKT1 ALG10B ANK2 APOB BAZ1B BCL7B BUD23 CACNA1C CACNA2D1 CALM1 CALM2 CALM3 CASQ2 CAV3 CLCF1 CLIP2 CPT1A CRLF1 CSRP3 DES DNAJC19 DNAJC30 DPP6 DSC2 DSG2 DSP DTNA EIF4H ELN EMD ENPP1 EYA4 FHL1 FHOD3 FKBP6 FLNC GNAI2 GPD1L GTF2I GTF2IRD1 GTF2IRD2 HLA-B HLA-DRB1 IKZF1 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 LDB3 LDLR LDLRAP1 LEMD2 LIMK1 LMNA LRP6 METTL27 MLXIPL MYBPC3 MYH7 MYL2 MYL3 MYOZ2 NCF1 NOS1AP NUP155 P4HA2 PCSK9 PGM1 PKP2 PPA2 PRKAG2 PTEN PTPN22 RBM20 RFC2 RYR2 SCN10A SCN4B SCN5A SGCD SLC4A3 SNTA1 STX1A SYNE1 SYNE2 TBL2 TBX5 TECRL TGFB3 TMEM270 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TRDN VPS37D WAS WIPF1

Diseases (77) :ORPHA:457 ORPHA:758 ORPHA:391665 ORPHA:99901 OMIM:201475 ORPHA:101016 ORPHA:744 OMIM:613688 OMIM:600919 ORPHA:904 OMIM:611875 OMIM:618447 ORPHA:51083 ORPHA:3286 OMIM:614916 OMIM:604772 ORPHA:1545 ORPHA:156 OMIM:612124 ORPHA:98909 OMIM:610198 OMIM:612956 OMIM:610476 OMIM:610193 OMIM:607450 OMIM:604169 OMIM:310300 ORPHA:98863 OMIM:605362 OMIM:619402 OMIM:617047 OMIM:192605 OMIM:611777 ORPHA:397 ORPHA:36426 OMIM:601214 ORPHA:34217 OMIM:612347 OMIM:613695 OMIM:613693 OMIM:609620 OMIM:220400 OMIM:192500 OMIM:609621 OMIM:601493 OMIM:212500 ORPHA:98853 ORPHA:98855 OMIM:115200 OMIM:181350 ORPHA:300751 OMIM:610947 OMIM:115197 OMIM:613426 ORPHA:1880 OMIM:608758 OMIM:608751 OMIM:613838 OMIM:615770 OMIM:614921 OMIM:609040 OMIM:617222 OMIM:194200 OMIM:613172 OMIM:115000 OMIM:611819 OMIM:601144 OMIM:603830 OMIM:113900 OMIM:606685 OMIM:107970 OMIM:604400 OMIM:611879 OMIM:115210 OMIM:601494 OMIM:115196 ORPHA:906

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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