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:0001707	HP:0001707	Abnormal right ventricle morphology	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1		85
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome		27
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0001707	HP:0001707	Abnormal right ventricle morphology	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001707	HP:0030740	Anomalous muscle bundle of the right ventricle	1	CL E G H
HP:0001707	HP:0001648	Cor pulmonale	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001707	HP:0005133	Right ventricular dilatation	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0001707	HP:0005133	Right ventricular dilatation	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0001707	HP:0001648	Cor pulmonale	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0001707	HP:0005133	Right ventricular dilatation	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001707	HP:0001648	Cor pulmonale	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0001707	HP:0005133	Right ventricular dilatation	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0001707	HP:0005133	Right ventricular dilatation	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0001707	HP:0005133	Right ventricular dilatation	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001707	HP:0001648	Cor pulmonale	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0001707	HP:0001648	Cor pulmonale	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001707	HP:0005133	Right ventricular dilatation	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001707	HP:0005133	Right ventricular dilatation	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0001707	HP:0005133	Right ventricular dilatation	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0001707	HP:0004762	Hypoplasia of right ventricle	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0001707	HP:0001648	Cor pulmonale	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001707	HP:0005133	Right ventricular dilatation	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001707	HP:0001648	Cor pulmonale	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0001707	HP:0001648	Cor pulmonale	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001707	HP:0004762	Hypoplasia of right ventricle	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0001707	HP:0005133	Right ventricular dilatation	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	1269
HP:0001707	HP:0001648	Cor pulmonale	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001707	HP:0005133	Right ventricular dilatation	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0001707	HP:0034364	Fibrofatty replacement of right ventricular myocardium	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0001707	HP:0004762	Hypoplasia of right ventricle	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0001707	HP:0005133	Right ventricular dilatation	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	144
HP:0001707	HP:0001648	Cor pulmonale	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional	51
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001707	HP:0001648	Cor pulmonale	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001707	HP:0005133	Right ventricular dilatation	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0001707	HP:0001648	Cor pulmonale	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.	85
HP:0001707	HP:0005133	Right ventricular dilatation	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0001707	HP:0005133	Right ventricular dilatation	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0001707	HP:0011663	Right ventricular cardiomyopathy	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0001707	HP:0001648	Cor pulmonale	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001707	HP:0001648	Cor pulmonale	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0001707	HP:0005133	Right ventricular dilatation	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional	27
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	7128
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001707	HP:0001667	Right ventricular hypertrophy	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63