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:0003220	HP:0003220	Abnormality of chromosome stability	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	4
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	79
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	6
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	88
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	9
HP:0003220	HP:0003220	Abnormality of chromosome stability	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	9
HP:0003220	HP:0040012	Chromosome breakage	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0003220	HP:0040012	Chromosome breakage	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0003220	HP:0040012	Chromosome breakage	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0003220	HP:0040012	Chromosome breakage	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0003220	HP:0040012	Chromosome breakage	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0003220	HP:0040012	Chromosome breakage	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0003220	HP:0040012	Chromosome breakage	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0003220	HP:0040012	Chromosome breakage	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0003220	HP:0040012	Chromosome breakage	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0003220	HP:0040012	Chromosome breakage	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0003220	HP:0040012	Chromosome breakage	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003220	HP:0040012	Chromosome breakage	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0003220	HP:0040012	Chromosome breakage	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003220	HP:0040012	Chromosome breakage	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0003220	HP:0040012	Chromosome breakage	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0003220	HP:0040012	Chromosome breakage	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0003220	HP:0040012	Chromosome breakage	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0003220	HP:0040012	Chromosome breakage	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0003220	HP:0040012	Chromosome breakage	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0003220	HP:0040012	Chromosome breakage	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0003220	HP:0040012	Chromosome breakage	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0003220	HP:0040012	Chromosome breakage	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0003220	HP:0040012	Chromosome breakage	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0003220	HP:0040012	Chromosome breakage	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0003220	HP:0040012	Chromosome breakage	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0003220	HP:0040012	Chromosome breakage	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0003220	HP:0040012	Chromosome breakage	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0003220	HP:0040012	Chromosome breakage	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0003220	HP:0040012	Chromosome breakage	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0003220	HP:0040012	Chromosome breakage	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0003220	HP:0040012	Chromosome breakage	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0003220	HP:0040012	Chromosome breakage	1	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0003220	HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003220	HP:0040012	Chromosome breakage	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0003220	HP:0040012	Chromosome breakage	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003220	HP:0003564	Folate-dependent fragile site at Xq28	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0003220	HP:0003564	Folate-dependent fragile site at Xq28	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0003220	HP:0003221	Chromosomal breakage induced by crosslinking agents	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0003220	HP:0003564	Folate-dependent fragile site at Xq28	2	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3
HP:0003220	HP:0010997	Chromosomal breakage induced by ionizing radiation	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent