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:0004306	HP:0004306	Abnormal endocardium morphology	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	4
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	31
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma		134
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac		134
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0004306	HP:0004306	Abnormal endocardium morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0004306	HP:0006685	Endocardial fibrosis	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.	307
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0004306	HP:0100584	Endocarditis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004306	HP:0100584	Endocarditis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0004306	HP:0100584	Endocarditis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004306	HP:0100584	Endocarditis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0004306	HP:0100584	Endocarditis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0004306	HP:0100584	Endocarditis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0004306	HP:0100584	Endocarditis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0004306	HP:0100584	Endocarditis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0004306	HP:0100584	Endocarditis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004306	HP:0100584	Endocarditis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004306	HP:0100584	Endocarditis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004306	HP:0100584	Endocarditis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004306	HP:0006685	Endocardial fibrosis	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.	286
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004306	HP:0100584	Endocarditis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0004306	HP:0006685	Endocardial fibrosis	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0004306	HP:0006685	Endocardial fibrosis	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0004306	HP:0100584	Endocarditis	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma		134
HP:0004306	HP:0100584	Endocarditis	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac		134
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0004306	HP:0006685	Endocardial fibrosis	1	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.	49
HP:0004306	HP:0100584	Endocarditis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0004306	HP:0001706	Endocardial fibroelastosis	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0004306	HP:0100584	Endocarditis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0004306	HP:0100584	Endocarditis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004306	HP:0006685	Endocardial fibrosis	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.	248
HP:0004306	HP:0011714	Libman-Sacks lesions	2	CL E G H
HP:0004306	HP:0006689	Bacterial endocarditis	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0004306	HP:0006689	Bacterial endocarditis	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0004306	HP:0006689	Bacterial endocarditis	2	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.	134