Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031593	HP:0031593	Abnormal PR interval	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0031593	HP:0031593	Abnormal PR interval	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0031593	HP:0031593	Abnormal PR interval	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0031593	HP:0031593	Abnormal PR interval	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031593	HP:0031593	Abnormal PR interval	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0031593	HP:0031593	Abnormal PR interval	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0031593	HP:0031593	Abnormal PR interval	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0031593	HP:0031593	Abnormal PR interval	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0031593	HP:0031593	Abnormal PR interval	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0031593	HP:0031593	Abnormal PR interval	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0031593	HP:0031593	Abnormal PR interval	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0031593	HP:0031593	Abnormal PR interval	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0031593	HP:0031593	Abnormal PR interval	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0031593	HP:0031593	Abnormal PR interval	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0031593	HP:0031593	Abnormal PR interval	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital		235
HP:0031593	HP:0031593	Abnormal PR interval	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0031593	HP:0031593	Abnormal PR interval	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0031593	HP:0031593	Abnormal PR interval	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0031593	HP:0031593	Abnormal PR interval	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0031593	HP:0031593	Abnormal PR interval	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0031593	HP:0031593	Abnormal PR interval	0	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB		124
HP:0031593	HP:0005165	Shortened PR interval	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	247
HP:0031593	HP:0012248	Prolonged PR interval	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0031593	HP:0005165	Shortened PR interval	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0031593	HP:0005165	Shortened PR interval	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031593	HP:0012248	Prolonged PR interval	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0031593	HP:0005165	Shortened PR interval	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0031593	HP:0005165	Shortened PR interval	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0031593	HP:0005165	Shortened PR interval	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional
HP:0031593	HP:0012248	Prolonged PR interval	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0031593	HP:0012248	Prolonged PR interval	1	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0031593	HP:0012248	Prolonged PR interval	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7	HP:0040283 - Occasional	38
HP:0031593	HP:0005165	Shortened PR interval	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	10
HP:0031593	HP:0012248	Prolonged PR interval	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0031593	HP:0005165	Shortened PR interval	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0031593	HP:0005165	Shortened PR interval	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0031593	HP:0005165	Shortened PR interval	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0031593	HP:0012248	Prolonged PR interval	1	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0031593	HP:0012248	Prolonged PR interval	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0031593	HP:0012248	Prolonged PR interval	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0031593	HP:0012248	Prolonged PR interval	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0031593	HP:0005165	Shortened PR interval	1	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124