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:0001681	HP:0001681	Angina pectoris	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0001681	HP:0001681	Angina pectoris	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001681	HP:0001681	Angina pectoris	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0001681	HP:0001681	Angina pectoris	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0001681	HP:0001681	Angina pectoris	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001681	HP:0001681	Angina pectoris	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001681	HP:0001681	Angina pectoris	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0001681	HP:0001681	Angina pectoris	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0001681	HP:0001681	Angina pectoris	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001681	HP:0001681	Angina pectoris	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0001681	HP:0001681	Angina pectoris	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0001681	HP:0001681	Angina pectoris	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0001681	HP:0001681	Angina pectoris	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0001681	HP:0001681	Angina pectoris	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001681	HP:0001681	Angina pectoris	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001681	HP:0001681	Angina pectoris	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0001681	HP:0001681	Angina pectoris	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001681	HP:0001681	Angina pectoris	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0001681	HP:0001681	Angina pectoris	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0001681	HP:0001681	Angina pectoris	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0001681	HP:0001681	Angina pectoris	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0001681	HP:0001681	Angina pectoris	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional	26
HP:0001681	HP:0001681	Angina pectoris	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001681	HP:0001681	Angina pectoris	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001681	HP:0001681	Angina pectoris	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0001681	HP:0001681	Angina pectoris	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040282 - Frequent	35
HP:0001681	HP:0001681	Angina pectoris	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0001681	HP:0001681	Angina pectoris	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	645
HP:0001681	HP:0001681	Angina pectoris	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0001681	HP:0001681	Angina pectoris	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001681	HP:0001681	Angina pectoris	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001681	HP:0001681	Angina pectoris	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001681	HP:0001681	Angina pectoris	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001681	HP:0001681	Angina pectoris	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001681	HP:0001681	Angina pectoris	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0001681	HP:0001681	Angina pectoris	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0001681	HP:0001681	Angina pectoris	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0001681	HP:0001681	Angina pectoris	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0001681	HP:0001681	Angina pectoris	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001681	HP:0001681	Angina pectoris	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0001681	HP:0001681	Angina pectoris	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0001681	HP:0001681	Angina pectoris	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	83