Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTA2 CL E G H	59	91387		ORPHA	1	83	290	130	102620
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELN CL E G H	2006	91387		ORPHA	1	127	523	3327	130160
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	91387		ORPHA	1	2721	4284	3603	134797
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXE3 CL E G H	2301	91387		ORPHA	1	31	86	3808	601094
HP:0000525	HP:0000525	Abnormality iris morphology	0	LOX CL E G H	4015	91387		ORPHA	1	9	67	6664	153455
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAT2A CL E G H	4144	91387		ORPHA	1	2	84	6904	601468
HP:0000525	HP:0000525	Abnormality iris morphology	0	MFAP5 CL E G H	8076	91387		ORPHA	1	3	82	29673	601103
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYH11 CL E G H	4629	91387		ORPHA	1	69	1990	7569	160745
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYLK CL E G H	4638	91387		ORPHA	1	43	892	7590	600922
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRKG1 CL E G H	5592	91387		ORPHA	1	6	273	9414	176894
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMAD3 CL E G H	4088	91387		ORPHA	1	95	592	6769	603109
HP:0000525	HP:0000525	Abnormality iris morphology	0	TBR1 CL E G H	10716	1617		ORPHA	1	18	78	11590	604616
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFB2 CL E G H	7042	91387		ORPHA	1	43	341	11768	190220
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFB3 CL E G H	7043	91387		ORPHA	1	34	253	11769	190230
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFBR1 CL E G H	7046	91387		ORPHA	1	79	541	11772	190181
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFBR2 CL E G H	7048	91387		ORPHA	1	148	572	11773	190182
HP:0000525	HP:0000525	Abnormality iris morphology	1	ACTA2 CL E G H	59	91387		ORPHA	1	83	290	130	102620
HP:0000525	HP:0000525	Abnormality iris morphology	1	ELN CL E G H	2006	91387		ORPHA	1	127	523	3327	130160
HP:0000525	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	91387		ORPHA	1	2721	4284	3603	134797
HP:0000525	HP:0000525	Abnormality iris morphology	1	FOXE3 CL E G H	2301	91387		ORPHA	1	31	86	3808	601094
HP:0000525	HP:0000525	Abnormality iris morphology	1	LOX CL E G H	4015	91387		ORPHA	1	9	67	6664	153455
HP:0000525	HP:0000525	Abnormality iris morphology	1	MAT2A CL E G H	4144	91387		ORPHA	1	2	84	6904	601468
HP:0000525	HP:0000525	Abnormality iris morphology	1	MFAP5 CL E G H	8076	91387		ORPHA	1	3	82	29673	601103
HP:0000525	HP:0000525	Abnormality iris morphology	1	MYH11 CL E G H	4629	91387		ORPHA	1	69	1990	7569	160745
HP:0000525	HP:0000525	Abnormality iris morphology	1	MYLK CL E G H	4638	91387		ORPHA	1	43	892	7590	600922
HP:0000525	HP:0000525	Abnormality iris morphology	1	PRKG1 CL E G H	5592	91387		ORPHA	1	6	273	9414	176894
HP:0000525	HP:0000525	Abnormality iris morphology	1	SMAD3 CL E G H	4088	91387		ORPHA	1	95	592	6769	603109
HP:0000525	HP:0000525	Abnormality iris morphology	1	TBR1 CL E G H	10716	1617		ORPHA	1	18	78	11590	604616
HP:0000525	HP:0000525	Abnormality iris morphology	1	TGFB2 CL E G H	7042	91387		ORPHA	1	43	341	11768	190220
HP:0000525	HP:0000525	Abnormality iris morphology	1	TGFB3 CL E G H	7043	91387		ORPHA	1	34	253	11769	190230
HP:0000525	HP:0000525	Abnormality iris morphology	1	TGFBR1 CL E G H	7046	91387		ORPHA	1	79	541	11772	190181
HP:0000525	HP:0000525	Abnormality iris morphology	1	TGFBR2 CL E G H	7048	91387		ORPHA	1	148	572	11773	190182
HP:0000525	HP:0000525	Abnormality iris morphology	2	ACTA2 CL E G H	59	91387		ORPHA	1	83	290	130	102620
HP:0000525	HP:0000525	Abnormality iris morphology	2	ELN CL E G H	2006	91387		ORPHA	1	127	523	3327	130160
HP:0000525	HP:0000525	Abnormality iris morphology	2	FBN1 CL E G H	2200	91387		ORPHA	1	2721	4284	3603	134797
HP:0000525	HP:0000525	Abnormality iris morphology	2	FOXE3 CL E G H	2301	91387		ORPHA	1	31	86	3808	601094
HP:0000525	HP:0000525	Abnormality iris morphology	2	LOX CL E G H	4015	91387		ORPHA	1	9	67	6664	153455
HP:0000525	HP:0000525	Abnormality iris morphology	2	MAT2A CL E G H	4144	91387		ORPHA	1	2	84	6904	601468
HP:0000525	HP:0000525	Abnormality iris morphology	2	MFAP5 CL E G H	8076	91387		ORPHA	1	3	82	29673	601103
HP:0000525	HP:0000525	Abnormality iris morphology	2	MYH11 CL E G H	4629	91387		ORPHA	1	69	1990	7569	160745
HP:0000525	HP:0000525	Abnormality iris morphology	2	MYLK CL E G H	4638	91387		ORPHA	1	43	892	7590	600922
HP:0000525	HP:0000525	Abnormality iris morphology	2	PRKG1 CL E G H	5592	91387		ORPHA	1	6	273	9414	176894
HP:0000525	HP:0000525	Abnormality iris morphology	2	SMAD3 CL E G H	4088	91387		ORPHA	1	95	592	6769	603109
HP:0000525	HP:0000525	Abnormality iris morphology	2	TBR1 CL E G H	10716	1617		ORPHA	1	18	78	11590	604616
HP:0000525	HP:0000525	Abnormality iris morphology	2	TGFB2 CL E G H	7042	91387		ORPHA	1	43	341	11768	190220
HP:0000525	HP:0000525	Abnormality iris morphology	2	TGFB3 CL E G H	7043	91387		ORPHA	1	34	253	11769	190230
HP:0000525	HP:0000525	Abnormality iris morphology	2	TGFBR1 CL E G H	7046	91387		ORPHA	1	79	541	11772	190181
HP:0000525	HP:0000525	Abnormality iris morphology	2	TGFBR2 CL E G H	7048	91387		ORPHA	1	148	572	11773	190182
HP:0000525	HP:0000525	Abnormality iris morphology	3	ACTA2 CL E G H	59	91387		ORPHA	1	83	290	130	102620
HP:0000525	HP:0000525	Abnormality iris morphology	3	ELN CL E G H	2006	91387		ORPHA	1	127	523	3327	130160
HP:0000525	HP:0000525	Abnormality iris morphology	3	FBN1 CL E G H	2200	91387		ORPHA	1	2721	4284	3603	134797
HP:0000525	HP:0000525	Abnormality iris morphology	3	FOXE3 CL E G H	2301	91387		ORPHA	1	31	86	3808	601094
HP:0000525	HP:0000525	Abnormality iris morphology	3	LOX CL E G H	4015	91387		ORPHA	1	9	67	6664	153455
HP:0000525	HP:0000525	Abnormality iris morphology	3	MAT2A CL E G H	4144	91387		ORPHA	1	2	84	6904	601468
HP:0000525	HP:0000525	Abnormality iris morphology	3	MFAP5 CL E G H	8076	91387		ORPHA	1	3	82	29673	601103
HP:0000525	HP:0000525	Abnormality iris morphology	3	MYH11 CL E G H	4629	91387		ORPHA	1	69	1990	7569	160745
HP:0000525	HP:0000525	Abnormality iris morphology	3	MYLK CL E G H	4638	91387		ORPHA	1	43	892	7590	600922
HP:0000525	HP:0000525	Abnormality iris morphology	3	PRKG1 CL E G H	5592	91387		ORPHA	1	6	273	9414	176894
HP:0000525	HP:0000525	Abnormality iris morphology	3	SMAD3 CL E G H	4088	91387		ORPHA	1	95	592	6769	603109
HP:0000525	HP:0000525	Abnormality iris morphology	3	TBR1 CL E G H	10716	1617		ORPHA	1	18	78	11590	604616
HP:0000525	HP:0000525	Abnormality iris morphology	3	TGFB2 CL E G H	7042	91387		ORPHA	1	43	341	11768	190220
HP:0000525	HP:0000525	Abnormality iris morphology	3	TGFB3 CL E G H	7043	91387		ORPHA	1	34	253	11769	190230
HP:0000525	HP:0000525	Abnormality iris morphology	3	TGFBR1 CL E G H	7046	91387		ORPHA	1	79	541	11772	190181
HP:0000525	HP:0000525	Abnormality iris morphology	3	TGFBR2 CL E G H	7048	91387		ORPHA	1	148	572	11773	190182
HP:0000525	HP:0000525	Abnormality iris morphology	4	ACTA2 CL E G H	59	91387		ORPHA	1	83	290	130	102620
HP:0000525	HP:0000525	Abnormality iris morphology	4	ELN CL E G H	2006	91387		ORPHA	1	127	523	3327	130160
HP:0000525	HP:0000525	Abnormality iris morphology	4	FBN1 CL E G H	2200	91387		ORPHA	1	2721	4284	3603	134797
HP:0000525	HP:0000525	Abnormality iris morphology	4	FOXE3 CL E G H	2301	91387		ORPHA	1	31	86	3808	601094
HP:0000525	HP:0000525	Abnormality iris morphology	4	LOX CL E G H	4015	91387		ORPHA	1	9	67	6664	153455
HP:0000525	HP:0000525	Abnormality iris morphology	4	MAT2A CL E G H	4144	91387		ORPHA	1	2	84	6904	601468
HP:0000525	HP:0000525	Abnormality iris morphology	4	MFAP5 CL E G H	8076	91387		ORPHA	1	3	82	29673	601103
HP:0000525	HP:0000525	Abnormality iris morphology	4	MYH11 CL E G H	4629	91387		ORPHA	1	69	1990	7569	160745
HP:0000525	HP:0000525	Abnormality iris morphology	4	MYLK CL E G H	4638	91387		ORPHA	1	43	892	7590	600922
HP:0000525	HP:0000525	Abnormality iris morphology	4	PRKG1 CL E G H	5592	91387		ORPHA	1	6	273	9414	176894
HP:0000525	HP:0000525	Abnormality iris morphology	4	SMAD3 CL E G H	4088	91387		ORPHA	1	95	592	6769	603109
HP:0000525	HP:0000525	Abnormality iris morphology	4	TBR1 CL E G H	10716	1617		ORPHA	1	18	78	11590	604616
HP:0000525	HP:0000525	Abnormality iris morphology	4	TGFB2 CL E G H	7042	91387		ORPHA	1	43	341	11768	190220
HP:0000525	HP:0000525	Abnormality iris morphology	4	TGFB3 CL E G H	7043	91387		ORPHA	1	34	253	11769	190230
HP:0000525	HP:0000525	Abnormality iris morphology	4	TGFBR1 CL E G H	7046	91387		ORPHA	1	79	541	11772	190181
HP:0000525	HP:0000525	Abnormality iris morphology	4	TGFBR2 CL E G H	7048	91387		ORPHA	1	148	572	11773	190182
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000525	HP:0000525	Abnormality iris morphology	0	GJA1 CL E G H	2697	2710	Hm syndrome	ORPHA	0	109	141	4274	121014
HP:0000525	HP:0000525	Abnormality iris morphology	1	GJA1 CL E G H	2697	2710	Hm syndrome	ORPHA	0	109	141	4274	121014
HP:0000525	HP:0000525	Abnormality iris morphology	2	GJA1 CL E G H	2697	2710	Hm syndrome	ORPHA	0	109	141	4274	121014
HP:0000525	HP:0000525	Abnormality iris morphology	3	GJA1 CL E G H	2697	2710	Hm syndrome	ORPHA	0	109	141	4274	121014
HP:0000525	HP:0000525	Abnormality iris morphology	4	GJA1 CL E G H	2697	2710	Hm syndrome	ORPHA	0	109	141	4274	121014