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:0000632	HP:0000632	Lacrimation abnormality	0	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	221	355	3519	601653
HP:0000632	HP:0000632	Lacrimation abnormality	0	LIFR CL E G H	3977	3206				ORPHA	1	32	548	6597	151443
HP:0000632	HP:0000632	Lacrimation abnormality	0	PAX3 CL E G H	5077	894				ORPHA	1	153	245	8617	606597
HP:0000632	HP:0000632	Lacrimation abnormality	0	SCN9A CL E G H	6335	167400	Paroxysmal extreme pain disorder	167400	C1833661	OMIM	1	129	1427	10597	603415
HP:0000632	HP:0000632	Lacrimation abnormality	0	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	20	127	10887	601205
HP:0000632	HP:0000632	Lacrimation abnormality	0	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	369	15979	603273
HP:0000632	HP:0000632	Lacrimation abnormality	0	UBR1 CL E G H	197131	2315	Fetal warfarin syndrome			ORPHA	1	71	144	16808	605981
HP:0000632	HP:0000632	Lacrimation abnormality	1	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	221	355	3519	601653
HP:0000632	HP:0000632	Lacrimation abnormality	1	LIFR CL E G H	3977	3206				ORPHA	1	32	548	6597	151443
HP:0000632	HP:0000632	Lacrimation abnormality	1	PAX3 CL E G H	5077	894				ORPHA	1	153	245	8617	606597
HP:0000632	HP:0000632	Lacrimation abnormality	1	SCN9A CL E G H	6335	167400	Paroxysmal extreme pain disorder	167400	C1833661	OMIM	1	129	1427	10597	603415
HP:0000632	HP:0000632	Lacrimation abnormality	1	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	20	127	10887	601205
HP:0000632	HP:0000632	Lacrimation abnormality	1	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	369	15979	603273
HP:0000632	HP:0000632	Lacrimation abnormality	1	UBR1 CL E G H	197131	2315	Fetal warfarin syndrome			ORPHA	1	71	144	16808	605981
HP:0000632	HP:0000632	Lacrimation abnormality	2	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	221	355	3519	601653
HP:0000632	HP:0000632	Lacrimation abnormality	2	LIFR CL E G H	3977	3206				ORPHA	1	32	548	6597	151443
HP:0000632	HP:0000632	Lacrimation abnormality	2	PAX3 CL E G H	5077	894				ORPHA	1	153	245	8617	606597
HP:0000632	HP:0000632	Lacrimation abnormality	2	SCN9A CL E G H	6335	167400	Paroxysmal extreme pain disorder	167400	C1833661	OMIM	1	129	1427	10597	603415
HP:0000632	HP:0000632	Lacrimation abnormality	2	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	20	127	10887	601205
HP:0000632	HP:0000632	Lacrimation abnormality	2	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	369	15979	603273
HP:0000632	HP:0000632	Lacrimation abnormality	2	UBR1 CL E G H	197131	2315	Fetal warfarin syndrome			ORPHA	1	71	144	16808	605981
HP:0000632	HP:0000632	Lacrimation abnormality	3	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	221	355	3519	601653
HP:0000632	HP:0000632	Lacrimation abnormality	3	LIFR CL E G H	3977	3206				ORPHA	1	32	548	6597	151443
HP:0000632	HP:0000632	Lacrimation abnormality	3	PAX3 CL E G H	5077	894				ORPHA	1	153	245	8617	606597
HP:0000632	HP:0000632	Lacrimation abnormality	3	SCN9A CL E G H	6335	167400	Paroxysmal extreme pain disorder	167400	C1833661	OMIM	1	129	1427	10597	603415
HP:0000632	HP:0000632	Lacrimation abnormality	3	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	20	127	10887	601205
HP:0000632	HP:0000632	Lacrimation abnormality	3	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	369	15979	603273
HP:0000632	HP:0000632	Lacrimation abnormality	3	UBR1 CL E G H	197131	2315	Fetal warfarin syndrome			ORPHA	1	71	144	16808	605981
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000632	HP:0000632	Lacrimation abnormality	0	ARID1A CL E G H	8289	1465				ORPHA	0	36	336	11110	603024
HP:0000632	HP:0000632	Lacrimation abnormality	0	ARID1B CL E G H	57492	1465				ORPHA	0	188	815	18040	614556
HP:0000632	HP:0000632	Lacrimation abnormality	0	ARID2 CL E G H	196528	1465				ORPHA	0	11	169	18037	609539
HP:0000632	HP:0000632	Lacrimation abnormality	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	190	961	605681
HP:0000632	HP:0000632	Lacrimation abnormality	0	CHD7 CL E G H	55636	138				ORPHA	0	884	1672	20626	608892
HP:0000632	HP:0000632	Lacrimation abnormality	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	176	2586	603432
HP:0000632	HP:0000632	Lacrimation abnormality	0	DPF2 CL E G H	5977	1465				ORPHA	0	9	33	9964	601671
HP:0000632	HP:0000632	Lacrimation abnormality	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	631	3327	130160
HP:0000632	HP:0000632	Lacrimation abnormality	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	158	4659	601679
HP:0000632	HP:0000632	Lacrimation abnormality	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	210	4661	604318
HP:0000632	HP:0000632	Lacrimation abnormality	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	195	6613	601329
HP:0000632	HP:0000632	Lacrimation abnormality	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	0	264	418	8108	300535
HP:0000632	HP:0000632	Lacrimation abnormality	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	174	9970	600404
HP:0000632	HP:0000632	Lacrimation abnormality	0	SEMA3E CL E G H	9723	138				ORPHA	0	4	327	10727	608166
HP:0000632	HP:0000632	Lacrimation abnormality	0	SMARCA4 CL E G H	6597	1465				ORPHA	0	57	3038	11100	603254
HP:0000632	HP:0000632	Lacrimation abnormality	0	SMARCB1 CL E G H	6598	1465				ORPHA	0	119	637	11103	601607
HP:0000632	HP:0000632	Lacrimation abnormality	0	SMARCE1 CL E G H	6605	1465				ORPHA	0	13	413	11109	603111
HP:0000632	HP:0000632	Lacrimation abnormality	0	SOX11 CL E G H	6664	1465				ORPHA	0	14	89	11191	600898
HP:0000632	HP:0000632	Lacrimation abnormality	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		161	11586	605842
HP:0000632	HP:0000632	Lacrimation abnormality	0	TWIST2 CL E G H	117581	1807				ORPHA	0	9	91	20670	607556
HP:0000632	HP:0000632	Lacrimation abnormality	1	ARID1A CL E G H	8289	1465				ORPHA	0	36	336	11110	603024
HP:0000632	HP:0000632	Lacrimation abnormality	1	ARID1B CL E G H	57492	1465				ORPHA	0	188	815	18040	614556
HP:0000632	HP:0000632	Lacrimation abnormality	1	ARID2 CL E G H	196528	1465				ORPHA	0	11	169	18037	609539
HP:0000632	HP:0000632	Lacrimation abnormality	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	190	961	605681
HP:0000632	HP:0000632	Lacrimation abnormality	1	CHD7 CL E G H	55636	138				ORPHA	0	884	1672	20626	608892
HP:0000632	HP:0000632	Lacrimation abnormality	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	176	2586	603432
HP:0000632	HP:0000632	Lacrimation abnormality	1	DPF2 CL E G H	5977	1465				ORPHA	0	9	33	9964	601671
HP:0000632	HP:0000632	Lacrimation abnormality	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	631	3327	130160
HP:0000632	HP:0000632	Lacrimation abnormality	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	158	4659	601679
HP:0000632	HP:0000632	Lacrimation abnormality	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	210	4661	604318
HP:0000632	HP:0000632	Lacrimation abnormality	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	195	6613	601329
HP:0000632	HP:0000632	Lacrimation abnormality	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	0	264	418	8108	300535
HP:0000632	HP:0000632	Lacrimation abnormality	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	174	9970	600404
HP:0000632	HP:0000632	Lacrimation abnormality	1	SEMA3E CL E G H	9723	138				ORPHA	0	4	327	10727	608166
HP:0000632	HP:0000632	Lacrimation abnormality	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	57	3038	11100	603254
HP:0000632	HP:0000632	Lacrimation abnormality	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	119	637	11103	601607
HP:0000632	HP:0000632	Lacrimation abnormality	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	13	413	11109	603111
HP:0000632	HP:0000632	Lacrimation abnormality	1	SOX11 CL E G H	6664	1465				ORPHA	0	14	89	11191	600898
HP:0000632	HP:0000632	Lacrimation abnormality	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		161	11586	605842
HP:0000632	HP:0000632	Lacrimation abnormality	1	TWIST2 CL E G H	117581	1807				ORPHA	0	9	91	20670	607556
HP:0000632	HP:0000632	Lacrimation abnormality	2	ARID1A CL E G H	8289	1465				ORPHA	0	36	336	11110	603024
HP:0000632	HP:0000632	Lacrimation abnormality	2	ARID1B CL E G H	57492	1465				ORPHA	0	188	815	18040	614556
HP:0000632	HP:0000632	Lacrimation abnormality	2	ARID2 CL E G H	196528	1465				ORPHA	0	11	169	18037	609539
HP:0000632	HP:0000632	Lacrimation abnormality	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	190	961	605681
HP:0000632	HP:0000632	Lacrimation abnormality	2	CHD7 CL E G H	55636	138				ORPHA	0	884	1672	20626	608892
HP:0000632	HP:0000632	Lacrimation abnormality	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	176	2586	603432
HP:0000632	HP:0000632	Lacrimation abnormality	2	DPF2 CL E G H	5977	1465				ORPHA	0	9	33	9964	601671
HP:0000632	HP:0000632	Lacrimation abnormality	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	631	3327	130160
HP:0000632	HP:0000632	Lacrimation abnormality	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	158	4659	601679
HP:0000632	HP:0000632	Lacrimation abnormality	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	210	4661	604318
HP:0000632	HP:0000632	Lacrimation abnormality	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	195	6613	601329
HP:0000632	HP:0000632	Lacrimation abnormality	2	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	0	264	418	8108	300535
HP:0000632	HP:0000632	Lacrimation abnormality	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	174	9970	600404
HP:0000632	HP:0000632	Lacrimation abnormality	2	SEMA3E CL E G H	9723	138				ORPHA	0	4	327	10727	608166
HP:0000632	HP:0000632	Lacrimation abnormality	2	SMARCA4 CL E G H	6597	1465				ORPHA	0	57	3038	11100	603254
HP:0000632	HP:0000632	Lacrimation abnormality	2	SMARCB1 CL E G H	6598	1465				ORPHA	0	119	637	11103	601607
HP:0000632	HP:0000632	Lacrimation abnormality	2	SMARCE1 CL E G H	6605	1465				ORPHA	0	13	413	11109	603111
HP:0000632	HP:0000632	Lacrimation abnormality	2	SOX11 CL E G H	6664	1465				ORPHA	0	14	89	11191	600898
HP:0000632	HP:0000632	Lacrimation abnormality	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		161	11586	605842
HP:0000632	HP:0000632	Lacrimation abnormality	2	TWIST2 CL E G H	117581	1807				ORPHA	0	9	91	20670	607556
HP:0000632	HP:0000632	Lacrimation abnormality	3	ARID1A CL E G H	8289	1465				ORPHA	0	36	336	11110	603024
HP:0000632	HP:0000632	Lacrimation abnormality	3	ARID1B CL E G H	57492	1465				ORPHA	0	188	815	18040	614556
HP:0000632	HP:0000632	Lacrimation abnormality	3	ARID2 CL E G H	196528	1465				ORPHA	0	11	169	18037	609539
HP:0000632	HP:0000632	Lacrimation abnormality	3	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	190	961	605681
HP:0000632	HP:0000632	Lacrimation abnormality	3	CHD7 CL E G H	55636	138				ORPHA	0	884	1672	20626	608892
HP:0000632	HP:0000632	Lacrimation abnormality	3	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	176	2586	603432
HP:0000632	HP:0000632	Lacrimation abnormality	3	DPF2 CL E G H	5977	1465				ORPHA	0	9	33	9964	601671
HP:0000632	HP:0000632	Lacrimation abnormality	3	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	631	3327	130160
HP:0000632	HP:0000632	Lacrimation abnormality	3	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	158	4659	601679
HP:0000632	HP:0000632	Lacrimation abnormality	3	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	210	4661	604318
HP:0000632	HP:0000632	Lacrimation abnormality	3	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	195	6613	601329
HP:0000632	HP:0000632	Lacrimation abnormality	3	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	0	264	418	8108	300535
HP:0000632	HP:0000632	Lacrimation abnormality	3	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	174	9970	600404
HP:0000632	HP:0000632	Lacrimation abnormality	3	SEMA3E CL E G H	9723	138				ORPHA	0	4	327	10727	608166
HP:0000632	HP:0000632	Lacrimation abnormality	3	SMARCA4 CL E G H	6597	1465				ORPHA	0	57	3038	11100	603254
HP:0000632	HP:0000632	Lacrimation abnormality	3	SMARCB1 CL E G H	6598	1465				ORPHA	0	119	637	11103	601607
HP:0000632	HP:0000632	Lacrimation abnormality	3	SMARCE1 CL E G H	6605	1465				ORPHA	0	13	413	11109	603111
HP:0000632	HP:0000632	Lacrimation abnormality	3	SOX11 CL E G H	6664	1465				ORPHA	0	14	89	11191	600898
HP:0000632	HP:0000632	Lacrimation abnormality	3	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		161	11586	605842
HP:0000632	HP:0000632	Lacrimation abnormality	3	TWIST2 CL E G H	117581	1807				ORPHA	0	9	91	20670	607556