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:0001685	HP:0001685	Myocardial fibrosis	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0001685	HP:0001685	Myocardial fibrosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001685	HP:0001685	Myocardial fibrosis	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001685	HP:0001685	Myocardial fibrosis	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001685	HP:0001685	Myocardial fibrosis	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0001685	HP:0001685	Myocardial fibrosis	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.	111
HP:0001685	HP:0001685	Myocardial fibrosis	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001685	HP:0001685	Myocardial fibrosis	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001685	HP:0001685	Myocardial fibrosis	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001685	HP:0001685	Myocardial fibrosis	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001685	HP:0001685	Myocardial fibrosis	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001685	HP:0001685	Myocardial fibrosis	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0001685	HP:0001685	Myocardial fibrosis	0	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced	.	8
HP:0001685	HP:0001685	Myocardial fibrosis	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	.	8
HP:0001685	HP:0001685	Myocardial fibrosis	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001685	HP:0001685	Myocardial fibrosis	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare	39
HP:0001685	HP:0001685	Myocardial fibrosis	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy		180
HP:0001685	HP:0001685	Myocardial fibrosis	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy		248
HP:0001685	HP:0001685	Myocardial fibrosis	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78
HP:0001685	HP:0031328	Perivascular cardiac fibrosis	1	CL E G H
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0001685	HP:0031329	Interstitial cardiac fibrosis	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248