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:0100754	HP:0100754	Mania	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0100754	HP:0100754	Mania	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0100754	HP:0100754	Mania	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0100754	HP:0100754	Mania	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0100754	HP:0100754	Mania	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0100754	HP:0100754	Mania	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0100754	HP:0100754	Mania	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0100754	HP:0100754	Mania	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0100754	HP:0100754	Mania	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0100754	HP:0100754	Mania	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0100754	HP:0100754	Mania	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0100754	HP:0100754	Mania	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0100754	HP:0100754	Mania	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0100754	HP:0100754	Mania	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0100754	HP:0100754	Mania	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0100754	HP:0100754	Mania	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0100754	HP:0100754	Mania	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome		950
HP:0100754	HP:0100754	Mania	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0100754	HP:0100754	Mania	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0100754	HP:0100754	Mania	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0100754	HP:0100754	Mania	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0100754	HP:0100754	Mania	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0100754	HP:0100754	Mania	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0100754	HP:0100754	Mania	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0100754	HP:0100754	Mania	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0100754	HP:0100754	Mania	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers		65
HP:0100754	HP:0100754	Mania	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0100754	HP:0100754	Mania	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0100754	HP:0100754	Mania	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0100754	HP:0100754	Mania	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0100754	HP:0100754	Mania	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0100754	HP:0100754	Mania	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0100754	HP:0100754	Mania	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0100754	HP:0100754	Mania	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0100754	HP:0100754	Mania	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100754	HP:0100754	Mania	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0100754	HP:0100754	Mania	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0100754	HP:0100754	Mania	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0100754	HP:0100754	Mania	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0100754	HP:0007302	Bipolar affective disorder	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0100754	HP:0007302	Bipolar affective disorder	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0100754	HP:0007302	Bipolar affective disorder	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0100754	HP:0007302	Bipolar affective disorder	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0100754	HP:0007302	Bipolar affective disorder	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0100754	HP:0007302	Bipolar affective disorder	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0100754	HP:0007302	Bipolar affective disorder	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0100754	HP:0007302	Bipolar affective disorder	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0100754	HP:0007302	Bipolar affective disorder	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040284 - Very rare	76
HP:0100754	HP:0007302	Bipolar affective disorder	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0100754	HP:0007302	Bipolar affective disorder	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0100754	HP:0007302	Bipolar affective disorder	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0100754	HP:0007302	Bipolar affective disorder	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0100754	HP:0007302	Bipolar affective disorder	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0100754	HP:0007302	Bipolar affective disorder	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0100754	HP:0007302	Bipolar affective disorder	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0100754	HP:0007302	Bipolar affective disorder	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0100754	HP:0007302	Bipolar affective disorder	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0100754	HP:0007302	Bipolar affective disorder	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0100754	HP:0007302	Bipolar affective disorder	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0100754	HP:0007302	Bipolar affective disorder	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0100754	HP:0007302	Bipolar affective disorder	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0100754	HP:0007302	Bipolar affective disorder	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0100754	HP:0007302	Bipolar affective disorder	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0100754	HP:0007302	Bipolar affective disorder	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0100754	HP:0007302	Bipolar affective disorder	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100754	HP:0007302	Bipolar affective disorder	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30