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:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ALDH3A2 CL E G H	224	816		ORPHA	1	111	308	403	609523
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CTLA4 CL E G H	1493	900		ORPHA	1	72	114	2505	123890
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR3 CL E G H	2261	93262		ORPHA	1	77	431	3690	134934
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness	ORPHA	1	77	16	4931	142800
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	3287		ORPHA	1	53	17	4932	142830
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DPA1 CL E G H	3113	900		ORPHA	1	1	15	4938	142880
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DPB1 CL E G H	3115	900		ORPHA	1	9	15	4940	142858
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL12B CL E G H	3593	3287		ORPHA	1	19	113	5970	161561
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MLX CL E G H	6945	3287		ORPHA	1	1	18	11645	602976
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PRTN3 CL E G H	5657	900		ORPHA	1		44	9495	177020
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN22 CL E G H	26191	900		ORPHA	1	14	28	9652	600716
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	ALDH3A2 CL E G H	224	816		ORPHA	1	111	308	403	609523
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	CTLA4 CL E G H	1493	900		ORPHA	1	72	114	2505	123890
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	FGFR3 CL E G H	2261	93262		ORPHA	1	77	431	3690	134934
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness	ORPHA	1	77	16	4931	142800
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	HLA-B CL E G H	3106	3287		ORPHA	1	53	17	4932	142830
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	HLA-DPA1 CL E G H	3113	900		ORPHA	1	1	15	4938	142880
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	HLA-DPB1 CL E G H	3115	900		ORPHA	1	9	15	4940	142858
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	IL12B CL E G H	3593	3287		ORPHA	1	19	113	5970	161561
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	MLX CL E G H	6945	3287		ORPHA	1	1	18	11645	602976
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	PRTN3 CL E G H	5657	900		ORPHA	1		44	9495	177020
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	PTPN22 CL E G H	26191	900		ORPHA	1	14	28	9652	600716
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	ALDH3A2 CL E G H	224	816		ORPHA	1	111	308	403	609523
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	CTLA4 CL E G H	1493	900		ORPHA	1	72	114	2505	123890
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	FGFR3 CL E G H	2261	93262		ORPHA	1	77	431	3690	134934
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness	ORPHA	1	77	16	4931	142800
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	HLA-B CL E G H	3106	3287		ORPHA	1	53	17	4932	142830
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	HLA-DPA1 CL E G H	3113	900		ORPHA	1	1	15	4938	142880
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	HLA-DPB1 CL E G H	3115	900		ORPHA	1	9	15	4940	142858
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	IL12B CL E G H	3593	3287		ORPHA	1	19	113	5970	161561
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	MLX CL E G H	6945	3287		ORPHA	1	1	18	11645	602976
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	PRTN3 CL E G H	5657	900		ORPHA	1		44	9495	177020
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	PTPN22 CL E G H	26191	900		ORPHA	1	14	28	9652	600716
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	ALDH3A2 CL E G H	224	816		ORPHA	1	111	308	403	609523
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	CTLA4 CL E G H	1493	900		ORPHA	1	72	114	2505	123890
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	FGFR3 CL E G H	2261	93262		ORPHA	1	77	431	3690	134934
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness	ORPHA	1	77	16	4931	142800
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	HLA-B CL E G H	3106	3287		ORPHA	1	53	17	4932	142830
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	HLA-DPA1 CL E G H	3113	900		ORPHA	1	1	15	4938	142880
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	HLA-DPB1 CL E G H	3115	900		ORPHA	1	9	15	4940	142858
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	IL12B CL E G H	3593	3287		ORPHA	1	19	113	5970	161561
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	MLX CL E G H	6945	3287		ORPHA	1	1	18	11645	602976
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	PRTN3 CL E G H	5657	900		ORPHA	1		44	9495	177020
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	PTPN22 CL E G H	26191	900		ORPHA	1	14	28	9652	600716
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BAP1 CL E G H	8314	39044		ORPHA	0	119	1261	950	603089
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBA CL E G H	1535	379		ORPHA	0	76	179	2577	608508
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBB CL E G H	1536	379		ORPHA	0	782	376	2578	300481
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBC1 CL E G H	79415	379		ORPHA	0	1	33	28672	0
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYSLTR2 CL E G H	57105	39044		ORPHA	0	2	62	18274	605666
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNA11 CL E G H	2767	39044		ORPHA	0	11	62	4379	139313
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNAQ CL E G H	2776	39044		ORPHA	0	6	58	4390	600998
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF1 CL E G H	653361	379		ORPHA	0	48	86	7660	608512
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF2 CL E G H	4688	379		ORPHA	0	79	183	7661	608515
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF4 CL E G H	4689	379		ORPHA	0	13	119	7662	601488
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SF3B1 CL E G H	23451	39044		ORPHA	0	4	64	10768	605590
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	BAP1 CL E G H	8314	39044		ORPHA	0	119	1261	950	603089
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	CYBA CL E G H	1535	379		ORPHA	0	76	179	2577	608508
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	CYBB CL E G H	1536	379		ORPHA	0	782	376	2578	300481
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	CYBC1 CL E G H	79415	379		ORPHA	0	1	33	28672	0
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	CYSLTR2 CL E G H	57105	39044		ORPHA	0	2	62	18274	605666
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	GNA11 CL E G H	2767	39044		ORPHA	0	11	62	4379	139313
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	GNAQ CL E G H	2776	39044		ORPHA	0	6	58	4390	600998
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	NCF1 CL E G H	653361	379		ORPHA	0	48	86	7660	608512
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	NCF2 CL E G H	4688	379		ORPHA	0	79	183	7661	608515
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	NCF4 CL E G H	4689	379		ORPHA	0	13	119	7662	601488
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	1	SF3B1 CL E G H	23451	39044		ORPHA	0	4	64	10768	605590
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	BAP1 CL E G H	8314	39044		ORPHA	0	119	1261	950	603089
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	CYBA CL E G H	1535	379		ORPHA	0	76	179	2577	608508
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	CYBB CL E G H	1536	379		ORPHA	0	782	376	2578	300481
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	CYBC1 CL E G H	79415	379		ORPHA	0	1	33	28672	0
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	CYSLTR2 CL E G H	57105	39044		ORPHA	0	2	62	18274	605666
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	GNA11 CL E G H	2767	39044		ORPHA	0	11	62	4379	139313
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	GNAQ CL E G H	2776	39044		ORPHA	0	6	58	4390	600998
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	NCF1 CL E G H	653361	379		ORPHA	0	48	86	7660	608512
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	NCF2 CL E G H	4688	379		ORPHA	0	79	183	7661	608515
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	NCF4 CL E G H	4689	379		ORPHA	0	13	119	7662	601488
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	2	SF3B1 CL E G H	23451	39044		ORPHA	0	4	64	10768	605590
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	BAP1 CL E G H	8314	39044		ORPHA	0	119	1261	950	603089
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	CYBA CL E G H	1535	379		ORPHA	0	76	179	2577	608508
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	CYBB CL E G H	1536	379		ORPHA	0	782	376	2578	300481
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	CYBC1 CL E G H	79415	379		ORPHA	0	1	33	28672	0
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	CYSLTR2 CL E G H	57105	39044		ORPHA	0	2	62	18274	605666
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	GNA11 CL E G H	2767	39044		ORPHA	0	11	62	4379	139313
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	GNAQ CL E G H	2776	39044		ORPHA	0	6	58	4390	600998
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	NCF1 CL E G H	653361	379		ORPHA	0	48	86	7660	608512
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	NCF2 CL E G H	4688	379		ORPHA	0	79	183	7661	608515
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	NCF4 CL E G H	4689	379		ORPHA	0	13	119	7662	601488
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	3	SF3B1 CL E G H	23451	39044		ORPHA	0	4	64	10768	605590