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:0000712	HP:0000712	Emotional lability	0	ANG CL E G H	283	803				ORPHA	1	114	483	105850
HP:0000712	HP:0000712	Emotional lability	0	ANXA11 CL E G H	311	803				ORPHA	1	305	535	602572
HP:0000712	HP:0000712	Emotional lability	0	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0000712	HP:0000712	Emotional lability	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0000712	HP:0000712	Emotional lability	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0000712	HP:0000712	Emotional lability	0	ATXN2 CL E G H	6311	803				ORPHA	1	115	10555	601517
HP:0000712	HP:0000712	Emotional lability	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	295	4117	601873
HP:0000712	HP:0000712	Emotional lability	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000712	HP:0000712	Emotional lability	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0000712	HP:0000712	Emotional lability	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	307	25443	614297
HP:0000712	HP:0000712	Emotional lability	0	C9orf72 CL E G H	203228	803				ORPHA	1	177	28337	614260
HP:0000712	HP:0000712	Emotional lability	0	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	2330	1514	601199
HP:0000712	HP:0000712	Emotional lability	0	CCNF CL E G H	899	803				ORPHA	1	151	1591	600227
HP:0000712	HP:0000712	Emotional lability	0	CFAP410 CL E G H	755	803				ORPHA	1	459	1260	603191
HP:0000712	HP:0000712	Emotional lability	0	CHCHD10 CL E G H	400916	803				ORPHA	1	297	15559	615903
HP:0000712	HP:0000712	Emotional lability	0	CHMP2B CL E G H	25978	803				ORPHA	1	160	24537	609512
HP:0000712	HP:0000712	Emotional lability	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000712	HP:0000712	Emotional lability	0	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000712	HP:0000712	Emotional lability	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000712	HP:0000712	Emotional lability	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	218	2531	603539
HP:0000712	HP:0000712	Emotional lability	0	DAO CL E G H	1610	803				ORPHA	1	65	2671	124050
HP:0000712	HP:0000712	Emotional lability	0	DCTN1 CL E G H	1639	803				ORPHA	1	1084	2711	601143
HP:0000712	HP:0000712	Emotional lability	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000712	HP:0000712	Emotional lability	0	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000712	HP:0000712	Emotional lability	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	192	3257	606686
HP:0000712	HP:0000712	Emotional lability	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	190	3258	606454
HP:0000712	HP:0000712	Emotional lability	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	181	3259	606273
HP:0000712	HP:0000712	Emotional lability	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	233	3260	606687
HP:0000712	HP:0000712	Emotional lability	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	579	3261	603945
HP:0000712	HP:0000712	Emotional lability	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0000712	HP:0000712	Emotional lability	0	EPHA4 CL E G H	2043	803				ORPHA	1	193	3388	602188
HP:0000712	HP:0000712	Emotional lability	0	ERBB4 CL E G H	2066	803				ORPHA	1	462	3432	600543
HP:0000712	HP:0000712	Emotional lability	0	FIG4 CL E G H	9896	803				ORPHA	1	926	16873	609390
HP:0000712	HP:0000712	Emotional lability	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000712	HP:0000712	Emotional lability	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0000712	HP:0000712	Emotional lability	0	FUS CL E G H	2521	803				ORPHA	1	474	4010	137070
HP:0000712	HP:0000712	Emotional lability	0	GLE1 CL E G H	2733	803				ORPHA	1	475	4315	603371
HP:0000712	HP:0000712	Emotional lability	0	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	283	4379	139313
HP:0000712	HP:0000712	Emotional lability	0	HDAC8 CL E G H	55869	3459				ORPHA	1	381	13315	300269
HP:0000712	HP:0000712	Emotional lability	0	HNRNPA1 CL E G H	3178	803				ORPHA	1	80	5031	164017
HP:0000712	HP:0000712	Emotional lability	0	LAS1L CL E G H	81887	3459				ORPHA	1	283	25726	300964
HP:0000712	HP:0000712	Emotional lability	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	283	25726	300964
HP:0000712	HP:0000712	Emotional lability	0	LEPR CL E G H	3953	179494				ORPHA	1	293	6554	601007
HP:0000712	HP:0000712	Emotional lability	0	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000712	HP:0000712	Emotional lability	0	MATR3 CL E G H	9782	803				ORPHA	1	450	6912	164015
HP:0000712	HP:0000712	Emotional lability	0	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1573	11957	300188
HP:0000712	HP:0000712	Emotional lability	0	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000712	HP:0000712	Emotional lability	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000712	HP:0000712	Emotional lability	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000712	HP:0000712	Emotional lability	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000712	HP:0000712	Emotional lability	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000712	HP:0000712	Emotional lability	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000712	HP:0000712	Emotional lability	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000712	HP:0000712	Emotional lability	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000712	HP:0000712	Emotional lability	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000712	HP:0000712	Emotional lability	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000712	HP:0000712	Emotional lability	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000712	HP:0000712	Emotional lability	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000712	HP:0000712	Emotional lability	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000712	HP:0000712	Emotional lability	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000712	HP:0000712	Emotional lability	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000712	HP:0000712	Emotional lability	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000712	HP:0000712	Emotional lability	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000712	HP:0000712	Emotional lability	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000712	HP:0000712	Emotional lability	0	NEFH CL E G H	4744	803				ORPHA	1	714	7737	162230
HP:0000712	HP:0000712	Emotional lability	0	NEK1 CL E G H	4750	803				ORPHA	1	679	7744	604588
HP:0000712	HP:0000712	Emotional lability	0	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	1262	8031	191315
HP:0000712	HP:0000712	Emotional lability	0	OPTN CL E G H	10133	803				ORPHA	1	428	17142	602432
HP:0000712	HP:0000712	Emotional lability	0	PANK2 CL E G H	80025	216873				ORPHA	1	499	15894	606157
HP:0000712	HP:0000712	Emotional lability	0	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000712	HP:0000712	Emotional lability	0	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000712	HP:0000712	Emotional lability	0	PFN1 CL E G H	5216	803				ORPHA	1	101	8881	176610
HP:0000712	HP:0000712	Emotional lability	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	346	8896	311800
HP:0000712	HP:0000712	Emotional lability	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0000712	HP:0000712	Emotional lability	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000712	HP:0000712	Emotional lability	0	PON1 CL E G H	5444	803				ORPHA	1	65	9204	168820
HP:0000712	HP:0000712	Emotional lability	0	PON2 CL E G H	5445	803				ORPHA	1	68	9205	602447
HP:0000712	HP:0000712	Emotional lability	0	PON3 CL E G H	5446	803				ORPHA	1	62	9206	602720
HP:0000712	HP:0000712	Emotional lability	0	PPARGC1A CL E G H	10891	803				ORPHA	1	71	9237	604517
HP:0000712	HP:0000712	Emotional lability	0	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	43	9380	601639
HP:0000712	HP:0000712	Emotional lability	0	PRNP CL E G H	5621	280397				ORPHA	1	191	9449	176640
HP:0000712	HP:0000712	Emotional lability	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0000712	HP:0000712	Emotional lability	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	191	9449	176640
HP:0000712	HP:0000712	Emotional lability	0	PRPH CL E G H	5630	803				ORPHA	1	76	9461	170710
HP:0000712	HP:0000712	Emotional lability	0	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0000712	HP:0000712	Emotional lability	0	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000712	HP:0000712	Emotional lability	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000712	HP:0000712	Emotional lability	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000712	HP:0000712	Emotional lability	0	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	736	17129	607059
HP:0000712	HP:0000712	Emotional lability	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	736	17129	607059
HP:0000712	HP:0000712	Emotional lability	0	SLC6A19 CL E G H	340024	2116	Encephalopathy-basal ganglia-calcification			ORPHA	1	523	27960	608893
HP:0000712	HP:0000712	Emotional lability	0	SLC6A19 CL E G H	340024	234500	Neutral 1 amino acid transport defect	234500	C0018609	OMIM	1	523	27960	608893
HP:0000712	HP:0000712	Emotional lability	0	SOD1 CL E G H	6647	803				ORPHA	1	294	11179	147450
HP:0000712	HP:0000712	Emotional lability	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	353	18514	607111
HP:0000712	HP:0000712	Emotional lability	0	SQSTM1 CL E G H	8878	803				ORPHA	1	677	11280	601530
HP:0000712	HP:0000712	Emotional lability	0	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000712	HP:0000712	Emotional lability	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000712	HP:0000712	Emotional lability	0	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000712	HP:0000712	Emotional lability	0	TAF15 CL E G H	8148	803				ORPHA	1	125	11547	601574
HP:0000712	HP:0000712	Emotional lability	0	TARDBP CL E G H	23435	803				ORPHA	1	309	11571	605078
HP:0000712	HP:0000712	Emotional lability	0	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	309	11571	605078
HP:0000712	HP:0000712	Emotional lability	0	TBK1 CL E G H	29110	803				ORPHA	1	382	11584	604834
HP:0000712	HP:0000712	Emotional lability	0	TREM2 CL E G H	54209	803				ORPHA	1	154	17761	605086
HP:0000712	HP:0000712	Emotional lability	0	UBQLN2 CL E G H	29978	803				ORPHA	1	273	12509	300264
HP:0000712	HP:0000712	Emotional lability	0	UNC13A CL E G H	23025	803				ORPHA	1	140	23150	609894
HP:0000712	HP:0000712	Emotional lability	0	VAPB CL E G H	9217	803				ORPHA	1	359	12649	605704
HP:0000712	HP:0000712	Emotional lability	0	VCP CL E G H	7415	803				ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000712	HP:0000712	Emotional lability	0	ARSA CL E G H	410	309263				ORPHA	0	1140	713	607574
HP:0000712	HP:0000712	Emotional lability	0	ARSA CL E G H	410	309256				ORPHA	0	1140	713	607574
HP:0000712	HP:0000712	Emotional lability	0	ATP1A3 CL E G H	478	71517				ORPHA	0	993	801	182350
HP:0000712	HP:0000712	Emotional lability	0	MTPAP CL E G H	55149	254343				ORPHA	0	346	25532	613669
HP:0000712	HP:0000712	Emotional lability	0	MTPAP CL E G H	55149	613672	Ataxia, spastic, 4, autosomal recessive	613672	C3150925	OMIM	0	346	25532	613669
HP:0000712	HP:0000712	Emotional lability	0	PSAP CL E G H	5660	309256				ORPHA	0	772	9498	176801
HP:0000712	HP:0000712	Emotional lability	0	PSAP CL E G H	5660	309263				ORPHA	0	772	9498	176801
HP:0000712	HP:0000712	Emotional lability	0	RNF168 CL E G H	165918	420741				ORPHA	0	358	26661	612688
HP:0000712	HP:0000712	Emotional lability	0	SCN8A CL E G H	6334	614306	Cognitive impairment with or without cerebellar ataxia	614306	C3280415	OMIM	0	1799	10596	600702
HP:0000712	HP:0000712	Emotional lability	0	SPART CL E G H	23111	101000				ORPHA	0	353	18514	607111