Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000716	HP:0000716	Depression	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	543	21022	612035
HP:0000716	HP:0000716	Depression	0	AIP CL E G H	9049	963				ORPHA	1	867	358	605555
HP:0000716	HP:0000716	Depression	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	392	451	604489
HP:0000716	HP:0000716	Depression	0	ANG CL E G H	283	803				ORPHA	1	114	483	105850
HP:0000716	HP:0000716	Depression	0	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	470	6211	300836
HP:0000716	HP:0000716	Depression	0	ANXA11 CL E G H	311	803				ORPHA	1	305	535	602572
HP:0000716	HP:0000716	Depression	0	ARMC5 CL E G H	79798	189427				ORPHA	1	157	25781	615549
HP:0000716	HP:0000716	Depression	0	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	157	25781	615549
HP:0000716	HP:0000716	Depression	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0000716	HP:0000716	Depression	0	ATP7B CL E G H	540	905				ORPHA	1	2303	870	606882
HP:0000716	HP:0000716	Depression	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	116	10549	611150
HP:0000716	HP:0000716	Depression	0	ATXN2 CL E G H	6311	803				ORPHA	1	115	10555	601517
HP:0000716	HP:0000716	Depression	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0000716	HP:0000716	Depression	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0000716	HP:0000716	Depression	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	307	25443	614297
HP:0000716	HP:0000716	Depression	0	C9orf72 CL E G H	203228	100070				ORPHA	1	177	28337	614260
HP:0000716	HP:0000716	Depression	0	C9orf72 CL E G H	203228	275872				ORPHA	1	177	28337	614260
HP:0000716	HP:0000716	Depression	0	C9orf72 CL E G H	203228	803				ORPHA	1	177	28337	614260
HP:0000716	HP:0000716	Depression	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	177	28337	614260
HP:0000716	HP:0000716	Depression	0	CACNA1G CL E G H	8913	458803				ORPHA	1	822	1394	604065
HP:0000716	HP:0000716	Depression	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	822	1394	604065
HP:0000716	HP:0000716	Depression	0	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	2330	1514	601199
HP:0000716	HP:0000716	Depression	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0000716	HP:0000716	Depression	0	CCNF CL E G H	899	803				ORPHA	1	151	1591	600227
HP:0000716	HP:0000716	Depression	0	CDH23 CL E G H	64072	96253				ORPHA	1	4522	13733	605516
HP:0000716	HP:0000716	Depression	0	CFAP410 CL E G H	755	803				ORPHA	1	459	1260	603191
HP:0000716	HP:0000716	Depression	0	CHCHD10 CL E G H	400916	803				ORPHA	1	297	15559	615903
HP:0000716	HP:0000716	Depression	0	CHCHD10 CL E G H	400916	275872				ORPHA	1	297	15559	615903
HP:0000716	HP:0000716	Depression	0	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2930	20626	608892
HP:0000716	HP:0000716	Depression	0	CHMP2B CL E G H	25978	100070				ORPHA	1	160	24537	609512
HP:0000716	HP:0000716	Depression	0	CHMP2B CL E G H	25978	803				ORPHA	1	160	24537	609512
HP:0000716	HP:0000716	Depression	0	CISD2 CL E G H	493856	604928	Wolfram syndrome 2	604928	C1858028	OMIM	1	71	24212	611507
HP:0000716	HP:0000716	Depression	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0000716	HP:0000716	Depression	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0000716	HP:0000716	Depression	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	661	2077	606725
HP:0000716	HP:0000716	Depression	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	1	281	29932	609855
HP:0000716	HP:0000716	Depression	0	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0000716	HP:0000716	Depression	0	COQ2 CL E G H	27235	98933				ORPHA	1	346	25223	609825
HP:0000716	HP:0000716	Depression	0	CP CL E G H	1356	48818				ORPHA	1	831	2295	117700
HP:0000716	HP:0000716	Depression	0	CPOX CL E G H	1371	79273				ORPHA	1	256	2321	612732
HP:0000716	HP:0000716	Depression	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	256	2321	612732
HP:0000716	HP:0000716	Depression	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0000716	HP:0000716	Depression	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	218	2531	603539
HP:0000716	HP:0000716	Depression	0	CYP27A1 CL E G H	1593	909				ORPHA	1	940	2605	606530
HP:0000716	HP:0000716	Depression	0	DAO CL E G H	1610	803				ORPHA	1	65	2671	124050
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	178509				ORPHA	1	1084	2711	601143
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	803				ORPHA	1	1084	2711	601143
HP:0000716	HP:0000716	Depression	0	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	1084	2711	601143
HP:0000716	HP:0000716	Depression	0	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0000716	HP:0000716	Depression	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	428	16235	611203
HP:0000716	HP:0000716	Depression	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	1196	2976	126375
HP:0000716	HP:0000716	Depression	0	DRD2 CL E G H	1813	36899				ORPHA	1	129	3023	126450
HP:0000716	HP:0000716	Depression	0	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	66	3072	602748
HP:0000716	HP:0000716	Depression	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0000716	HP:0000716	Depression	0	EPCAM CL E G H	4072	144				ORPHA	1	744	11529	185535
HP:0000716	HP:0000716	Depression	0	EPHA4 CL E G H	2043	803				ORPHA	1	193	3388	602188
HP:0000716	HP:0000716	Depression	0	ERBB4 CL E G H	2066	803				ORPHA	1	462	3432	600543
HP:0000716	HP:0000716	Depression	0	FAN1 CL E G H	22909	144				ORPHA	1	482	29170	613534
HP:0000716	HP:0000716	Depression	0	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	119	3673	603725
HP:0000716	HP:0000716	Depression	0	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	98	3686	600483
HP:0000716	HP:0000716	Depression	0	FGFR1 CL E G H	2260	432	Arbovirosis			ORPHA	1	936	3688	136350
HP:0000716	HP:0000716	Depression	0	FIG4 CL E G H	9896	803				ORPHA	1	926	16873	609390
HP:0000716	HP:0000716	Depression	0	FMO3 CL E G H	2328	602079	Trimethylaminuria	602079	C0342739	OMIM	1	133	3771	136132
HP:0000716	HP:0000716	Depression	0	FMR1 CL E G H	2332	93256				ORPHA	1	371	3775	309550
HP:0000716	HP:0000716	Depression	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000716	HP:0000716	Depression	0	FUS CL E G H	2521	275872				ORPHA	1	474	4010	137070
HP:0000716	HP:0000716	Depression	0	FUS CL E G H	2521	803				ORPHA	1	474	4010	137070
HP:0000716	HP:0000716	Depression	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0000716	HP:0000716	Depression	0	GCH1 CL E G H	2643	98808				ORPHA	1	428	4193	600225
HP:0000716	HP:0000716	Depression	0	GLE1 CL E G H	2733	803				ORPHA	1	475	4315	603371
HP:0000716	HP:0000716	Depression	0	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	283	4379	139313
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	189427				ORPHA	1	644	4392	139320
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	644	4392	139320
HP:0000716	HP:0000716	Depression	0	GNRH1 CL E G H	2796	432	Arbovirosis			ORPHA	1	124	4419	152760
HP:0000716	HP:0000716	Depression	0	GNRHR CL E G H	2798	432	Arbovirosis			ORPHA	1	198	4421	138850
HP:0000716	HP:0000716	Depression	0	GPR101 CL E G H	83550	963				ORPHA	1	211	14963	300393
HP:0000716	HP:0000716	Depression	0	GRN CL E G H	2896	100070				ORPHA	1	594	4601	138945
HP:0000716	HP:0000716	Depression	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0000716	HP:0000716	Depression	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0000716	HP:0000716	Depression	0	HBB CL E G H	3043	231214				ORPHA	1	1600	4827	141900
HP:0000716	HP:0000716	Depression	0	HMBS CL E G H	3145	79276				ORPHA	1	492	4982	609806
HP:0000716	HP:0000716	Depression	0	HMBS CL E G H	3145	176000	Acute intermittent porphyria	176000	C0162565	OMIM	1	492	4982	609806
HP:0000716	HP:0000716	Depression	0	HNRNPA1 CL E G H	3178	803				ORPHA	1	80	5031	164017
HP:0000716	HP:0000716	Depression	0	HS6ST1 CL E G H	9394	432	Arbovirosis			ORPHA	1	112	5201	604846
HP:0000716	HP:0000716	Depression	0	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0000716	HP:0000716	Depression	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0000716	HP:0000716	Depression	0	IDUA CL E G H	3425	93473				ORPHA	1	1788	5391	252800
HP:0000716	HP:0000716	Depression	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0000716	HP:0000716	Depression	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	560	6263	600681
HP:0000716	HP:0000716	Depression	0	KCNT1 CL E G H	57582	615005	Epilepsy, nocturnal frontal lobe, 5	615005	C3554306	OMIM	1	2000	18865	608167
HP:0000716	HP:0000716	Depression	0	KCTD17 CL E G H	79734	36899				ORPHA	1	144	25705	616386
HP:0000716	HP:0000716	Depression	0	KCTD17 CL E G H	79734	616398	Dystonia 26, myoclonic	616398	C4225341	OMIM	1	144	25705	616386
HP:0000716	HP:0000716	Depression	0	KISS1 CL E G H	3814	432	Arbovirosis			ORPHA	1	57	6341	603286
HP:0000716	HP:0000716	Depression	0	KISS1R CL E G H	84634	432	Arbovirosis			ORPHA	1	154	4510	604161
HP:0000716	HP:0000716	Depression	0	KRAS CL E G H	3845	144				ORPHA	1	480	6407	190070
HP:0000716	HP:0000716	Depression	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0000716	HP:0000716	Depression	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	241	6637	150340
HP:0000716	HP:0000716	Depression	0	MAPT CL E G H	4137	100070				ORPHA	1	581	6893	157140
HP:0000716	HP:0000716	Depression	0	MATR3 CL E G H	9782	803				ORPHA	1	450	6912	164015
HP:0000716	HP:0000716	Depression	0	MECP2 CL E G H	4204	778				ORPHA	1	1925	6990	300005
HP:0000716	HP:0000716	Depression	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0000716	HP:0000716	Depression	0	MLH1 CL E G H	4292	144				ORPHA	1	5122	7127	120436
HP:0000716	HP:0000716	Depression	0	MLH3 CL E G H	27030	144				ORPHA	1	2210	7128	604395
HP:0000716	HP:0000716	Depression	0	MSH2 CL E G H	4436	144				ORPHA	1	6856	7325	609309
HP:0000716	HP:0000716	Depression	0	MSH6 CL E G H	2956	144				ORPHA	1	8438	7329	600678
HP:0000716	HP:0000716	Depression	0	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0000716	HP:0000716	Depression	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0000716	HP:0000716	Depression	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000716	HP:0000716	Depression	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000716	HP:0000716	Depression	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000716	HP:0000716	Depression	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000716	HP:0000716	Depression	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000716	HP:0000716	Depression	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000716	HP:0000716	Depression	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000716	HP:0000716	Depression	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000716	HP:0000716	Depression	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000716	HP:0000716	Depression	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000716	HP:0000716	Depression	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000716	HP:0000716	Depression	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000716	HP:0000716	Depression	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000716	HP:0000716	Depression	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000716	HP:0000716	Depression	0	NEFH CL E G H	4744	803				ORPHA	1	714	7737	162230
HP:0000716	HP:0000716	Depression	0	NEK1 CL E G H	4750	803				ORPHA	1	679	7744	604588
HP:0000716	HP:0000716	Depression	0	NOTCH3 CL E G H	4854	136				ORPHA	1	1343	7883	600276
HP:0000716	HP:0000716	Depression	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	143	7981	601828
HP:0000716	HP:0000716	Depression	0	NSMF CL E G H	26012	432	Arbovirosis			ORPHA	1	197	29843	608137
HP:0000716	HP:0000716	Depression	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	643	8108	300535
HP:0000716	HP:0000716	Depression	0	OPTN CL E G H	10133	803				ORPHA	1	428	17142	602432
HP:0000716	HP:0000716	Depression	0	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0000716	HP:0000716	Depression	0	PAH CL E G H	5053	261600	Phenylketonuria	261600	C0031485	OMIM	1	1446	8582	612349
HP:0000716	HP:0000716	Depression	0	PANK2 CL E G H	80025	216873				ORPHA	1	499	15894	606157
HP:0000716	HP:0000716	Depression	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0000716	HP:0000716	Depression	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0000716	HP:0000716	Depression	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0000716	HP:0000716	Depression	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	615007	Basal ganglia calcification, idiopathic, 4	615007	C3554321	OMIM	1	531	8804	173410
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0000716	HP:0000716	Depression	0	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000716	HP:0000716	Depression	0	PER2 CL E G H	8864	604348	Familial advanced sleep phase syndrome 1	604348	C3807327	OMIM	1	166	8846	603426
HP:0000716	HP:0000716	Depression	0	PER3 CL E G H	8863	616882	Advanced sleep phase syndrome, familial, 3	616882	C4225169	OMIM	1	137	8847	603427
HP:0000716	HP:0000716	Depression	0	PFN1 CL E G H	5216	803				ORPHA	1	101	8881	176610
HP:0000716	HP:0000716	Depression	0	PIK3CA CL E G H	5290	144				ORPHA	1	1159	8975	171834
HP:0000716	HP:0000716	Depression	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	384	14581	608309
HP:0000716	HP:0000716	Depression	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	775	9039	603604
HP:0000716	HP:0000716	Depression	0	PMS1 CL E G H	5378	144				ORPHA	1	125	9121	600258
HP:0000716	HP:0000716	Depression	0	PMS2 CL E G H	5395	144				ORPHA	1	4719	9122	600259
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	PON1 CL E G H	5444	803				ORPHA	1	65	9204	168820
HP:0000716	HP:0000716	Depression	0	PON2 CL E G H	5445	803				ORPHA	1	68	9205	602447
HP:0000716	HP:0000716	Depression	0	PON3 CL E G H	5446	803				ORPHA	1	62	9206	602720
HP:0000716	HP:0000716	Depression	0	PPARGC1A CL E G H	10891	803				ORPHA	1	71	9237	604517
HP:0000716	HP:0000716	Depression	0	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	71	9305	604325
HP:0000716	HP:0000716	Depression	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0000716	HP:0000716	Depression	0	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0000716	HP:0000716	Depression	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0000716	HP:0000716	Depression	0	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	323	9402	176980
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	157941				ORPHA	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	280397				ORPHA	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	191	9449	176640
HP:0000716	HP:0000716	Depression	0	PROK2 CL E G H	60675	432	Arbovirosis			ORPHA	1	65	18455	607002
HP:0000716	HP:0000716	Depression	0	PROKR2 CL E G H	128674	432	Arbovirosis			ORPHA	1	160	15836	607123
HP:0000716	HP:0000716	Depression	0	PRPH CL E G H	5630	803				ORPHA	1	76	9461	170710
HP:0000716	HP:0000716	Depression	0	PSEN1 CL E G H	5663	100070				ORPHA	1	501	9508	104311
HP:0000716	HP:0000716	Depression	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000716	HP:0000716	Depression	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0000716	HP:0000716	Depression	0	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0000716	HP:0000716	Depression	0	SGCE CL E G H	8910	36899				ORPHA	1	568	10808	604149
HP:0000716	HP:0000716	Depression	0	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	1	568	10808	604149
HP:0000716	HP:0000716	Depression	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0000716	HP:0000716	Depression	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	193	11138	163890
HP:0000716	HP:0000716	Depression	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	160	11139	603779
HP:0000716	HP:0000716	Depression	0	SOD1 CL E G H	6647	803				ORPHA	1	294	11179	147450
HP:0000716	HP:0000716	Depression	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1215	11233	604277
HP:0000716	HP:0000716	Depression	0	SPRY4 CL E G H	81848	432	Arbovirosis			ORPHA	1	78	15533	607984
HP:0000716	HP:0000716	Depression	0	SQSTM1 CL E G H	8878	275872				ORPHA	1	677	11280	601530
HP:0000716	HP:0000716	Depression	0	SQSTM1 CL E G H	8878	803				ORPHA	1	677	11280	601530
HP:0000716	HP:0000716	Depression	0	TAC3 CL E G H	6866	432	Arbovirosis			ORPHA	1	31	11521	162330
HP:0000716	HP:0000716	Depression	0	TACR3 CL E G H	6870	432	Arbovirosis			ORPHA	1	132	11528	162332
HP:0000716	HP:0000716	Depression	0	TAF15 CL E G H	8148	803				ORPHA	1	125	11547	601574
HP:0000716	HP:0000716	Depression	0	TARDBP CL E G H	23435	803				ORPHA	1	309	11571	605078
HP:0000716	HP:0000716	Depression	0	TARDBP CL E G H	23435	275872				ORPHA	1	309	11571	605078
HP:0000716	HP:0000716	Depression	0	TBC1D7 CL E G H	51256	248000	Macrocephalus	248000	C2243051	OMIM	1	124	21066	612655
HP:0000716	HP:0000716	Depression	0	TBK1 CL E G H	29110	803				ORPHA	1	382	11584	604834
HP:0000716	HP:0000716	Depression	0	TBK1 CL E G H	29110	275872				ORPHA	1	382	11584	604834
HP:0000716	HP:0000716	Depression	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0000716	HP:0000716	Depression	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0000716	HP:0000716	Depression	0	TGFBR2 CL E G H	7048	144				ORPHA	1	948	11773	190182
HP:0000716	HP:0000716	Depression	0	TMEM106B CL E G H	54664	100070				ORPHA	1	128	22407	613413
HP:0000716	HP:0000716	Depression	0	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	1	2159	11976	600985
HP:0000716	HP:0000716	Depression	0	TOR1A CL E G H	1861	36899				ORPHA	1	220	3098	605204
HP:0000716	HP:0000716	Depression	0	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	220	3098	605204
HP:0000716	HP:0000716	Depression	0	TREM2 CL E G H	54209	100070				ORPHA	1	154	17761	605086
HP:0000716	HP:0000716	Depression	0	TREM2 CL E G H	54209	803				ORPHA	1	154	17761	605086
HP:0000716	HP:0000716	Depression	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	343	26006	613814
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000716	HP:0000716	Depression	0	UBQLN2 CL E G H	29978	803				ORPHA	1	273	12509	300264
HP:0000716	HP:0000716	Depression	0	UNC13A CL E G H	23025	803				ORPHA	1	140	23150	609894
HP:0000716	HP:0000716	Depression	0	USP8 CL E G H	9101	96253				ORPHA	1	158	12631	603158
HP:0000716	HP:0000716	Depression	0	VAPB CL E G H	9217	803				ORPHA	1	359	12649	605704
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	275872				ORPHA	1	607	12666	601023
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	803				ORPHA	1	607	12666	601023
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	100070				ORPHA	1	607	12666	601023
HP:0000716	HP:0000716	Depression	0	WDR11 CL E G H	55717	432	Arbovirosis			ORPHA	1	369	13831	606417
HP:0000716	HP:0000716	Depression	0	WFS1 CL E G H	7466	411590				ORPHA	1	1634	12762	606201
HP:0000716	HP:0000716	Depression	0	WFS1 CL E G H	7466	614296	Wolfram-like syndrome, autosomal dominant	614296	C3280358	OMIM	1	1634	12762	606201
HP:0000716	HP:0000716	Depression	0	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0000716	HP:0000716	Depression	0	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	234	12827	605237
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000716	HP:0000716	Depression	0	ADGRV1 CL E G H	84059	231178				ORPHA	0	4561	17416	602851
HP:0000716	HP:0000716	Depression	0	AFG3L2 CL E G H	10939	101109				ORPHA	0	480	315	604581
HP:0000716	HP:0000716	Depression	0	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000716	HP:0000716	Depression	0	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	0	109	565	602242
HP:0000716	HP:0000716	Depression	0	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0000716	HP:0000716	Depression	0	ARSG CL E G H	22901	231183				ORPHA	0	418	24102	610008
HP:0000716	HP:0000716	Depression	0	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000716	HP:0000716	Depression	0	ATP13A2 CL E G H	23400	314632				ORPHA	0	974	30213	610513
HP:0000716	HP:0000716	Depression	0	ATP1A3 CL E G H	478	71517				ORPHA	0	993	801	182350
HP:0000716	HP:0000716	Depression	0	ATRX CL E G H	546	847				ORPHA	0	1925	886	300032
HP:0000716	HP:0000716	Depression	0	ATXN10 CL E G H	25814	98761				ORPHA	0	116	10549	611150
HP:0000716	HP:0000716	Depression	0	ATXN8 CL E G H	724066	98760				ORPHA	0	2	32925	613289
HP:0000716	HP:0000716	Depression	0	ATXN8OS CL E G H	6315	98760				ORPHA	0	87	10561	603680
HP:0000716	HP:0000716	Depression	0	BCR CL E G H	613	261330				ORPHA	0	277	1014	151410
HP:0000716	HP:0000716	Depression	0	C9orf72 CL E G H	203228	401901				ORPHA	0	177	28337	614260
HP:0000716	HP:0000716	Depression	0	CDH23 CL E G H	64072	231169				ORPHA	0	4522	13733	605516
HP:0000716	HP:0000716	Depression	0	CEP78 CL E G H	84131	231183				ORPHA	0	559	25740	617110
HP:0000716	HP:0000716	Depression	0	CIB2 CL E G H	10518	231169				ORPHA	0	227	24579	605564
HP:0000716	HP:0000716	Depression	0	CLRN1 CL E G H	7401	231183				ORPHA	0	358	12605	606397
HP:0000716	HP:0000716	Depression	0	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000716	HP:0000716	Depression	0	CRKL CL E G H	1399	261330				ORPHA	0	434	2363	602007
HP:0000716	HP:0000716	Depression	0	DGUOK CL E G H	1716	329314				ORPHA	0	239	2858	601465
HP:0000716	HP:0000716	Depression	0	DNAJC13 CL E G H	23317	411602				ORPHA	0	237	30343	614334
HP:0000716	HP:0000716	Depression	0	DNMT1 CL E G H	1786	314404				ORPHA	0	1196	2976	126375
HP:0000716	HP:0000716	Depression	0	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0000716	HP:0000716	Depression	0	EIF4G1 CL E G H	1981	411602				ORPHA	0	147	3296	600495
HP:0000716	HP:0000716	Depression	0	FGF14 CL E G H	2259	98764				ORPHA	0	251	3671	601515
HP:0000716	HP:0000716	Depression	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	251	3671	601515
HP:0000716	HP:0000716	Depression	0	GBA CL E G H	2629	411602				ORPHA	0		4177	606463
HP:0000716	HP:0000716	Depression	0	GIGYF2 CL E G H	26058	411602				ORPHA	0	338	11960	612003
HP:0000716	HP:0000716	Depression	0	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	0	1099	4296	300644
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	79444				ORPHA	0	644	4392	139320
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	94089				ORPHA	0	644	4392	139320
HP:0000716	HP:0000716	Depression	0	GNAS CL E G H	2778	79443				ORPHA	0	644	4392	139320
HP:0000716	HP:0000716	Depression	0	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000716	HP:0000716	Depression	0	GPIHBP1 CL E G H	338328	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	0	187	24945	612757
HP:0000716	HP:0000716	Depression	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	0	139	4492	602646
HP:0000716	HP:0000716	Depression	0	HARS CL E G H	3035	231183				ORPHA	0		4816	142810
HP:0000716	HP:0000716	Depression	0	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000716	HP:0000716	Depression	0	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000716	HP:0000716	Depression	0	LMF1 CL E G H	64788	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	0	554	14154	611761
HP:0000716	HP:0000716	Depression	0	LRRK2 CL E G H	120892	411602				ORPHA	0	2948	18618	609007
HP:0000716	HP:0000716	Depression	0	MAPK1 CL E G H	5594	261330				ORPHA	0	140	6871	176948
HP:0000716	HP:0000716	Depression	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	0	57	7380	142408
HP:0000716	HP:0000716	Depression	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7490	590050
HP:0000716	HP:0000716	Depression	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7491	590055
HP:0000716	HP:0000716	Depression	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7493	590010
HP:0000716	HP:0000716	Depression	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	0		7497	590080
HP:0000716	HP:0000716	Depression	0	MT-TS2 CL E G H	4575	231183				ORPHA	0		7498	590085
HP:0000716	HP:0000716	Depression	0	MYO7A CL E G H	4647	231169				ORPHA	0	3599	7606	276903
HP:0000716	HP:0000716	Depression	0	MYO7A CL E G H	4647	231178				ORPHA	0	3599	7606	276903
HP:0000716	HP:0000716	Depression	0	PCDH15 CL E G H	65217	231169				ORPHA	0	2917	14674	605514
HP:0000716	HP:0000716	Depression	0	PDZD7 CL E G H	79955	231178				ORPHA	0	927	26257	612971
HP:0000716	HP:0000716	Depression	0	PLA2G6 CL E G H	8398	199351				ORPHA	0	775	9039	603604
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	70595				ORPHA	0	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000716	HP:0000716	Depression	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000716	HP:0000716	Depression	0	PPOX CL E G H	5498	79473				ORPHA	0	225	9280	600923
HP:0000716	HP:0000716	Depression	0	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0000716	HP:0000716	Depression	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000716	HP:0000716	Depression	0	RPS6KA3 CL E G H	6197	276630				ORPHA	0	515	10432	300075
HP:0000716	HP:0000716	Depression	0	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000716	HP:0000716	Depression	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000716	HP:0000716	Depression	0	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000716	HP:0000716	Depression	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000716	HP:0000716	Depression	0	SNCA CL E G H	6622	411602				ORPHA	0	193	11138	163890
HP:0000716	HP:0000716	Depression	0	STX16 CL E G H	8675	94089				ORPHA	0	209	11431	603666
HP:0000716	HP:0000716	Depression	0	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000716	HP:0000716	Depression	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	0	1069	11634	602272
HP:0000716	HP:0000716	Depression	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000716	HP:0000716	Depression	0	TWNK CL E G H	56652	70595				ORPHA	0	450	1160	606075
HP:0000716	HP:0000716	Depression	0	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000716	HP:0000716	Depression	0	USH1C CL E G H	10083	231169				ORPHA	0	1146	12597	605242
HP:0000716	HP:0000716	Depression	0	USH1G CL E G H	124590	231169				ORPHA	0	420	16356	607696
HP:0000716	HP:0000716	Depression	0	USH2A CL E G H	7399	231178				ORPHA	0	7040	12601	608400
HP:0000716	HP:0000716	Depression	0	VCP CL E G H	7415	329478				ORPHA	0	607	12666	601023
HP:0000716	HP:0000716	Depression	0	VPS35 CL E G H	55737	411602				ORPHA	0	228	13487	601501
HP:0000716	HP:0000716	Depression	0	WHRN CL E G H	25861	231178				ORPHA	0	848	16361	607928