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:0000737	HP:0000737	Irritability	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1892	59	600509
HP:0000737	HP:0000737	Irritability	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0000737	HP:0000737	Irritability	0	ADAR CL E G H	103	51				ORPHA	1	1122	225	146920
HP:0000737	HP:0000737	Irritability	0	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0000737	HP:0000737	Irritability	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	934	438	171760
HP:0000737	HP:0000737	Irritability	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	591	473	238310
HP:0000737	HP:0000737	Irritability	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	329	634	107777
HP:0000737	HP:0000737	Irritability	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	446	663	608313
HP:0000737	HP:0000737	Irritability	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	913	735	613468
HP:0000737	HP:0000737	Irritability	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	674	746	608310
HP:0000737	HP:0000737	Irritability	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	686	758	603470
HP:0000737	HP:0000737	Irritability	0	ATP5F1A CL E G H	498	615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4	615228	C3808899	OMIM	1	209	823	164360
HP:0000737	HP:0000737	Irritability	0	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0000737	HP:0000737	Irritability	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	444	897	300538
HP:0000737	HP:0000737	Irritability	0	AVPR2 CL E G H	554	300539	Nephrogenic syndrome of inappropriate antidiuresis	300539	C1845202	OMIM	1	444	897	300538
HP:0000737	HP:0000737	Irritability	0	C9orf72 CL E G H	203228	275864				ORPHA	1	177	28337	614260
HP:0000737	HP:0000737	Irritability	0	CACNA1A CL E G H	773	71518				ORPHA	1	3248	1388	601011
HP:0000737	HP:0000737	Irritability	0	CHMP2B CL E G H	25978	275864				ORPHA	1	160	24537	609512
HP:0000737	HP:0000737	Irritability	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	640	2079	607837
HP:0000737	HP:0000737	Irritability	0	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0000737	HP:0000737	Irritability	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	339	18620	606976
HP:0000737	HP:0000737	Irritability	0	CPLX1 CL E G H	10815	352582				ORPHA	1	206	2309	605032
HP:0000737	HP:0000737	Irritability	0	CPOX CL E G H	1371	79273				ORPHA	1	256	2321	612732
HP:0000737	HP:0000737	Irritability	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	1507	2323	608307
HP:0000737	HP:0000737	Irritability	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0000737	HP:0000737	Irritability	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000737	HP:0000737	Irritability	0	DNMT1 CL E G H	1786	614116	Hereditary sensory neuropathy type IE	614116	C3279885	OMIM	1	1196	2976	126375
HP:0000737	HP:0000737	Irritability	0	EPCAM CL E G H	4072	144				ORPHA	1	744	11529	185535
HP:0000737	HP:0000737	Irritability	0	FAN1 CL E G H	22909	144				ORPHA	1	482	29170	613534
HP:0000737	HP:0000737	Irritability	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0000737	HP:0000737	Irritability	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0000737	HP:0000737	Irritability	0	GCDH CL E G H	2639	25				ORPHA	1	720	4189	608801
HP:0000737	HP:0000737	Irritability	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	428	4193	600225
HP:0000737	HP:0000737	Irritability	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	176	4208	238330
HP:0000737	HP:0000737	Irritability	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2238	4313	238300
HP:0000737	HP:0000737	Irritability	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0000737	HP:0000737	Irritability	0	GRN CL E G H	2896	275864				ORPHA	1	594	4601	138945
HP:0000737	HP:0000737	Irritability	0	GYS2 CL E G H	2998	2089				ORPHA	1	298	4707	138571
HP:0000737	HP:0000737	Irritability	0	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0000737	HP:0000737	Irritability	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	885	4976	609018
HP:0000737	HP:0000737	Irritability	0	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0000737	HP:0000737	Irritability	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	271	27302	615316
HP:0000737	HP:0000737	Irritability	0	IFIH1 CL E G H	64135	51				ORPHA	1	1170	18873	606951
HP:0000737	HP:0000737	Irritability	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0000737	HP:0000737	Irritability	0	ITPA CL E G H	3704	616647	Epileptic encephalopathy, early infantile, 35	616647	C4225256	OMIM	1	319	6176	147520
HP:0000737	HP:0000737	Irritability	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0000737	HP:0000737	Irritability	0	KRAS CL E G H	3845	144				ORPHA	1	480	6407	190070
HP:0000737	HP:0000737	Irritability	0	MAPT CL E G H	4137	275864				ORPHA	1	581	6893	157140
HP:0000737	HP:0000737	Irritability	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	581	6893	157140
HP:0000737	HP:0000737	Irritability	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	581	6893	157140
HP:0000737	HP:0000737	Irritability	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	581	6893	157140
HP:0000737	HP:0000737	Irritability	0	MLH1 CL E G H	4292	144				ORPHA	1	5122	7127	120436
HP:0000737	HP:0000737	Irritability	0	MLH3 CL E G H	27030	144				ORPHA	1	2210	7128	604395
HP:0000737	HP:0000737	Irritability	0	MSH2 CL E G H	4436	144				ORPHA	1	6856	7325	609309
HP:0000737	HP:0000737	Irritability	0	MSH6 CL E G H	2956	144				ORPHA	1	8438	7329	600678
HP:0000737	HP:0000737	Irritability	0	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0000737	HP:0000737	Irritability	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0000737	HP:0000737	Irritability	0	NDP CL E G H	4693	649				ORPHA	1	299	7678	300658
HP:0000737	HP:0000737	Irritability	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0000737	HP:0000737	Irritability	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000737	HP:0000737	Irritability	0	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	67	24731	0
HP:0000737	HP:0000737	Irritability	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	368	13398	300275
HP:0000737	HP:0000737	Irritability	0	NTRK1 CL E G H	4914	642				ORPHA	1	1262	8031	191315
HP:0000737	HP:0000737	Irritability	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	1	923	8512	300461
HP:0000737	HP:0000737	Irritability	0	PAH CL E G H	5053	261600	Phenylketonuria	261600	C0031485	OMIM	1	1446	8582	612349
HP:0000737	HP:0000737	Irritability	0	PANK2 CL E G H	80025	216873				ORPHA	1	499	15894	606157
HP:0000737	HP:0000737	Irritability	0	PIK3CA CL E G H	5290	144				ORPHA	1	1159	8975	171834
HP:0000737	HP:0000737	Irritability	0	PMS1 CL E G H	5378	144				ORPHA	1	125	9121	600258
HP:0000737	HP:0000737	Irritability	0	PMS2 CL E G H	5395	144				ORPHA	1	4719	9122	600259
HP:0000737	HP:0000737	Irritability	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0000737	HP:0000737	Irritability	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0000737	HP:0000737	Irritability	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0000737	HP:0000737	Irritability	0	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	191	9449	176640
HP:0000737	HP:0000737	Irritability	0	PSEN1 CL E G H	5663	275864				ORPHA	1	501	9508	104311
HP:0000737	HP:0000737	Irritability	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	501	9508	104311
HP:0000737	HP:0000737	Irritability	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	501	9508	104311
HP:0000737	HP:0000737	Irritability	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	263	9689	612719
HP:0000737	HP:0000737	Irritability	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	319	9752	612676
HP:0000737	HP:0000737	Irritability	0	RNASEH2A CL E G H	10535	51				ORPHA	1	404	18518	606034
HP:0000737	HP:0000737	Irritability	0	RNASEH2B CL E G H	79621	51				ORPHA	1	426	25671	610326
HP:0000737	HP:0000737	Irritability	0	RNASEH2C CL E G H	84153	51				ORPHA	1	307	24116	610330
HP:0000737	HP:0000737	Irritability	0	SAMHD1 CL E G H	25939	51				ORPHA	1	746	15925	606754
HP:0000737	HP:0000737	Irritability	0	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	746	15925	606754
HP:0000737	HP:0000737	Irritability	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0000737	HP:0000737	Irritability	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000737	HP:0000737	Irritability	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000737	HP:0000737	Irritability	0	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0000737	HP:0000737	Irritability	0	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0000737	HP:0000737	Irritability	0	SLC25A1 CL E G H	6576	615182	Combined d-2- and l-2-hydroxyglutaric aciduria	615182	C2746066	OMIM	1	568	10979	190315
HP:0000737	HP:0000737	Irritability	0	SLC25A19 CL E G H	60386	99742				ORPHA	1	182	14409	606521
HP:0000737	HP:0000737	Irritability	0	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	182	14409	606521
HP:0000737	HP:0000737	Irritability	0	SLC25A20 CL E G H	788	159				ORPHA	1	197	1421	613698
HP:0000737	HP:0000737	Irritability	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0000737	HP:0000737	Irritability	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	736	17129	607059
HP:0000737	HP:0000737	Irritability	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0000737	HP:0000737	Irritability	0	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0000737	HP:0000737	Irritability	0	SMARCB1 CL E G H	6598	99966				ORPHA	1	1043	11103	601607
HP:0000737	HP:0000737	Irritability	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	677	11280	601530
HP:0000737	HP:0000737	Irritability	0	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	340	10866	606494
HP:0000737	HP:0000737	Irritability	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0000737	HP:0000737	Irritability	0	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	373	10872	604402
HP:0000737	HP:0000737	Irritability	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000737	HP:0000737	Irritability	0	TBC1D24 CL E G H	57465	352582				ORPHA	1	893	29203	613577
HP:0000737	HP:0000737	Irritability	0	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	519	11653	613441
HP:0000737	HP:0000737	Irritability	0	TGFBR2 CL E G H	7048	144				ORPHA	1	948	11773	190182
HP:0000737	HP:0000737	Irritability	0	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000737	HP:0000737	Irritability	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0000737	HP:0000737	Irritability	0	TMEM106B CL E G H	54664	275864				ORPHA	1	128	22407	613413
HP:0000737	HP:0000737	Irritability	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000737	HP:0000737	Irritability	0	TP53 CL E G H	7157	1501				ORPHA	1	2977	11998	191170
HP:0000737	HP:0000737	Irritability	0	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0000737	HP:0000737	Irritability	0	TREM2 CL E G H	54209	275864				ORPHA	1	154	17761	605086
HP:0000737	HP:0000737	Irritability	0	TREX1 CL E G H	11277	51				ORPHA	1	418	12269	606609
HP:0000737	HP:0000737	Irritability	0	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0000737	HP:0000737	Irritability	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0000737	HP:0000737	Irritability	0	VCP CL E G H	7415	275864				ORPHA	1	607	12666	601023
HP:0000737	HP:0000737	Irritability	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0000737	HP:0000737	Irritability	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	359	25608	615850
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000737	HP:0000737	Irritability	0	C4A CL E G H	720	117				ORPHA	0	53	1323	120810
HP:0000737	HP:0000737	Irritability	0	CCR1 CL E G H	1230	117				ORPHA	0	31	1602	601159
HP:0000737	HP:0000737	Irritability	0	CLP1 CL E G H	10978	411493				ORPHA	0	97	16999	608757
HP:0000737	HP:0000737	Irritability	0	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0000737	HP:0000737	Irritability	0	ERAP1 CL E G H	51752	117				ORPHA	0	175	18173	606832
HP:0000737	HP:0000737	Irritability	0	FAS CL E G H	355	117				ORPHA	0	387	11920	134637
HP:0000737	HP:0000737	Irritability	0	GLRX5 CL E G H	51218	401866				ORPHA	0	111	20134	609588
HP:0000737	HP:0000737	Irritability	0	GNAS CL E G H	2778	79444				ORPHA	0	644	4392	139320
HP:0000737	HP:0000737	Irritability	0	GNAS CL E G H	2778	79443				ORPHA	0	644	4392	139320
HP:0000737	HP:0000737	Irritability	0	GNAS CL E G H	2778	94089				ORPHA	0	644	4392	139320
HP:0000737	HP:0000737	Irritability	0	HLA-B CL E G H	3106	117				ORPHA	0	29	4932	142830
HP:0000737	HP:0000737	Irritability	0	HSPG2 CL E G H	3339	800				ORPHA	0	2497	5273	142461
HP:0000737	HP:0000737	Irritability	0	IL10 CL E G H	3586	117				ORPHA	0	123	5962	124092
HP:0000737	HP:0000737	Irritability	0	IL12A CL E G H	3592	117				ORPHA	0	34	5969	161560
HP:0000737	HP:0000737	Irritability	0	IL12A-AS1 CL E G H	101928376	117				ORPHA	0	18	49094	0
HP:0000737	HP:0000737	Irritability	0	IL23R CL E G H	149233	117				ORPHA	0	241	19100	607562
HP:0000737	HP:0000737	Irritability	0	KLRC4 CL E G H	8302	117				ORPHA	0	44	6377	602893
HP:0000737	HP:0000737	Irritability	0	MEFV CL E G H	4210	117				ORPHA	0	1083	6998	608107
HP:0000737	HP:0000737	Irritability	0	PHGDH CL E G H	26227	79351				ORPHA	0	694	8923	606879
HP:0000737	HP:0000737	Irritability	0	PRRT2 CL E G H	112476	98811				ORPHA	0	799	30500	614386
HP:0000737	HP:0000737	Irritability	0	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000737	HP:0000737	Irritability	0	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000737	HP:0000737	Irritability	0	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000737	HP:0000737	Irritability	0	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000737	HP:0000737	Irritability	0	SLC2A1 CL E G H	6513	98811				ORPHA	0	965	11005	138140
HP:0000737	HP:0000737	Irritability	0	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	0	965	11005	138140
HP:0000737	HP:0000737	Irritability	0	STAT4 CL E G H	6775	117				ORPHA	0	307	11365	600558
HP:0000737	HP:0000737	Irritability	0	STX16 CL E G H	8675	94089				ORPHA	0	209	11431	603666
HP:0000737	HP:0000737	Irritability	0	TLR4 CL E G H	7099	117				ORPHA	0	83	11850	603030
HP:0000737	HP:0000737	Irritability	0	UBAC2 CL E G H	337867	117				ORPHA	0	126	20486	0