Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	948	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	628	3373	602700
HP:0000539	HP:0000539	Abnormality of refraction	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	948	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	628	3373	602700
HP:0000539	HP:0000539	Abnormality of refraction	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	948	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	628	3373	602700
HP:0000539	HP:0000539	Abnormality of refraction	3	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	948	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	3	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	628	3373	602700
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000539	HP:0000539	Abnormality of refraction	0	BAP1 CL E G H	8314	39044				ORPHA	0	119	1483	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	0	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	63	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	127	631	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	0	GNA11 CL E G H	2767	39044				ORPHA	0	11	128	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAQ CL E G H	2776	39044				ORPHA	0	6	72	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	6	200	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	0	SF3B1 CL E G H	23451	39044				ORPHA	0	4	67	10768	605590
HP:0000539	HP:0000539	Abnormality of refraction	1	BAP1 CL E G H	8314	39044				ORPHA	0	119	1483	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	63	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	127	631	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	1	GNA11 CL E G H	2767	39044				ORPHA	0	11	128	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	1	GNAQ CL E G H	2776	39044				ORPHA	0	6	72	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	6	200	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	1	SF3B1 CL E G H	23451	39044				ORPHA	0	4	67	10768	605590
HP:0000539	HP:0000539	Abnormality of refraction	2	BAP1 CL E G H	8314	39044				ORPHA	0	119	1483	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	63	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	127	631	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	2	GNA11 CL E G H	2767	39044				ORPHA	0	11	128	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	2	GNAQ CL E G H	2776	39044				ORPHA	0	6	72	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	6	200	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	2	SF3B1 CL E G H	23451	39044				ORPHA	0	4	67	10768	605590
HP:0000539	HP:0000539	Abnormality of refraction	3	BAP1 CL E G H	8314	39044				ORPHA	0	119	1483	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	3	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	63	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	3	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	127	631	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	3	GNA11 CL E G H	2767	39044				ORPHA	0	11	128	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	3	GNAQ CL E G H	2776	39044				ORPHA	0	6	72	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	3	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	6	200	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	3	SF3B1 CL E G H	23451	39044				ORPHA	0	4	67	10768	605590