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:0002465	HP:0002465	Poor speech	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	117	245	601568
HP:0002465	HP:0002465	Poor speech	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	90	257	102750
HP:0002465	HP:0002465	Poor speech	0	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0002465	HP:0002465	Poor speech	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	236	15672	606941
HP:0002465	HP:0002465	Poor speech	0	AP1S2 CL E G H	8905	85335				ORPHA	1	218	560	300629
HP:0002465	HP:0002465	Poor speech	0	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0002465	HP:0002465	Poor speech	0	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0002465	HP:0002465	Poor speech	0	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0002465	HP:0002465	Poor speech	0	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0002465	HP:0002465	Poor speech	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1	235	24036	612034
HP:0002465	HP:0002465	Poor speech	0	ATAD3A CL E G H	55210	496790				ORPHA	1	292	25567	612316
HP:0002465	HP:0002465	Poor speech	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0002465	HP:0002465	Poor speech	0	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0002465	HP:0002465	Poor speech	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0002465	HP:0002465	Poor speech	0	C9orf72 CL E G H	203228	275864				ORPHA	1	173	28337	614260
HP:0002465	HP:0002465	Poor speech	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	879	1424	114010
HP:0002465	HP:0002465	Poor speech	0	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	252	28909	300859
HP:0002465	HP:0002465	Poor speech	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	419	1938	612395
HP:0002465	HP:0002465	Poor speech	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	188	8740	164010
HP:0002465	HP:0002465	Poor speech	0	CHMP2B CL E G H	25978	275864				ORPHA	1	141	24537	609512
HP:0002465	HP:0002465	Poor speech	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	258	14214	612082
HP:0002465	HP:0002465	Poor speech	0	CNNM2 CL E G H	54805	34527				ORPHA	1	218	103	607803
HP:0002465	HP:0002465	Poor speech	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1634	13830	604569
HP:0002465	HP:0002465	Poor speech	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	939	2876	602121
HP:0002465	HP:0002465	Poor speech	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	237	2896	608770
HP:0002465	HP:0002465	Poor speech	0	EGF CL E G H	1950	34527				ORPHA	1	316	3229	131530
HP:0002465	HP:0002465	Poor speech	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	190	3267	300161
HP:0002465	HP:0002465	Poor speech	0	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	532	3513	608210
HP:0002465	HP:0002465	Poor speech	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	210	3668	601513
HP:0002465	HP:0002465	Poor speech	0	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	1	218	14074	606373
HP:0002465	HP:0002465	Poor speech	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	255	26927	613622
HP:0002465	HP:0002465	Poor speech	0	GABRD CL E G H	2563	1606				ORPHA	1	397	4084	137163
HP:0002465	HP:0002465	Poor speech	0	GATA4 CL E G H	2626	251071				ORPHA	1	630	4173	600576
HP:0002465	HP:0002465	Poor speech	0	GATAD2B CL E G H	57459	615074	Mental retardation, autosomal dominant 18	615074	C3554448	OMIM	1	291	30778	614998
HP:0002465	HP:0002465	Poor speech	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	250	17494	608803
HP:0002465	HP:0002465	Poor speech	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0002465	HP:0002465	Poor speech	0	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	40	4539	607468
HP:0002465	HP:0002465	Poor speech	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	158	4576	602368
HP:0002465	HP:0002465	Poor speech	0	GRN CL E G H	2896	275864				ORPHA	1	417	4601	138945
HP:0002465	HP:0002465	Poor speech	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	277	4696	611499
HP:0002465	HP:0002465	Poor speech	0	HDAC8 CL E G H	55869	3459				ORPHA	1	322	13315	300269
HP:0002465	HP:0002465	Poor speech	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	129	5044	600712
HP:0002465	HP:0002465	Poor speech	0	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	955	29059	300522
HP:0002465	HP:0002465	Poor speech	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1218	24565	612452
HP:0002465	HP:0002465	Poor speech	0	KAT6A CL E G H	7994	457193				ORPHA	1	545	13013	601408
HP:0002465	HP:0002465	Poor speech	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	91	6229	601142
HP:0002465	HP:0002465	Poor speech	0	KCNMA1 CL E G H	3778	617643	CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	617643	C4539985	OMIM	1	868	6284	600150
HP:0002465	HP:0002465	Poor speech	0	KIF14 CL E G H	9928	617914	MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE	617914	CN895593	OMIM	1	176	19181	611279
HP:0002465	HP:0002465	Poor speech	0	KIF4A CL E G H	24137	300923	Mental retardation, X-linked 100	300923	C3890167	OMIM	1	184	13339	300521
HP:0002465	HP:0002465	Poor speech	0	LAS1L CL E G H	81887	3459				ORPHA	1	243	25726	300964
HP:0002465	HP:0002465	Poor speech	0	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	255	30922	610350
HP:0002465	HP:0002465	Poor speech	0	MAPT CL E G H	4137	275864				ORPHA	1	514	6893	157140
HP:0002465	HP:0002465	Poor speech	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	704	22962	608771
HP:0002465	HP:0002465	Poor speech	0	MID2 CL E G H	11043	300928	Mental retardation, X-linked 101	300928	C3890168	OMIM	1	195	7096	300204
HP:0002465	HP:0002465	Poor speech	0	MRPS2 CL E G H	51116	617950	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36	617950	CN244569	OMIM	1	69	14495	611971
HP:0002465	HP:0002465	Poor speech	0	MTO1 CL E G H	25821	614702	Combined oxidative phosphorylation deficiency 10	614702	C3553529	OMIM	1	441	19261	614667
HP:0002465	HP:0002465	Poor speech	0	NALCN CL E G H	259232	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	615419	C3809454	OMIM	1	653	19082	611549
HP:0002465	HP:0002465	Poor speech	0	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	125	7680	600853
HP:0002465	HP:0002465	Poor speech	0	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	21	17194	609435
HP:0002465	HP:0002465	Poor speech	0	NDUFA6 CL E G H	4700	618253	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33	618253		OMIM	1	56	7690	602138
HP:0002465	HP:0002465	Poor speech	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002465	HP:0002465	Poor speech	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002465	HP:0002465	Poor speech	0	PAK1 CL E G H	5058	618158	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY	618158		OMIM	1	43	8590	602590
HP:0002465	HP:0002465	Poor speech	0	PIGC CL E G H	5279	617816	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	617816	C4540521	OMIM	1	52	8960	601730
HP:0002465	HP:0002465	Poor speech	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	18	8964	600154
HP:0002465	HP:0002465	Poor speech	0	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	90	9457	604436
HP:0002465	HP:0002465	Poor speech	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	244	26267	615247
HP:0002465	HP:0002465	Poor speech	0	PRDM16 CL E G H	63976	1606				ORPHA	1	1081	14000	605557
HP:0002465	HP:0002465	Poor speech	0	PSEN1 CL E G H	5663	275864				ORPHA	1	452	9508	104311
HP:0002465	HP:0002465	Poor speech	0	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	307	16499	300774
HP:0002465	HP:0002465	Poor speech	0	RERE CL E G H	473	1606				ORPHA	1	343	9965	605226
HP:0002465	HP:0002465	Poor speech	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	187	13429	300379
HP:0002465	HP:0002465	Poor speech	0	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	1	148	21686	612944
HP:0002465	HP:0002465	Poor speech	0	SASS6 CL E G H	163786	616402	Primary autosomal recessive microcephaly 14	616402	C4225338	OMIM	1	80	25403	609321
HP:0002465	HP:0002465	Poor speech	0	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	93	10760	600960
HP:0002465	HP:0002465	Poor speech	0	SKI CL E G H	6497	1606				ORPHA	1	910	10896	164780
HP:0002465	HP:0002465	Poor speech	0	SLC35A1 CL E G H	10559	603585	Congenital disorder of glycosylation type 2F	603585	C1970344	OMIM	1	108	11021	605634
HP:0002465	HP:0002465	Poor speech	0	SMARCA2 CL E G H	6595	601358	Nicolaides-Baraitser syndrome	601358	C1303073	OMIM	1	886	11098	600014
HP:0002465	HP:0002465	Poor speech	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	798	11111	300040
HP:0002465	HP:0002465	Poor speech	0	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	1	358	2468	606062
HP:0002465	HP:0002465	Poor speech	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	191	11132	600322
HP:0002465	HP:0002465	Poor speech	0	SOBP CL E G H	55084	613671	Mental retardation, anterior maxillary protrusion, and strabismus	613671	C3150924	OMIM	1	89	29256	613667
HP:0002465	HP:0002465	Poor speech	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	542	11280	601530
HP:0002465	HP:0002465	Poor speech	0	TAF2 CL E G H	6873	615599	Mental retardation, autosomal recessive 40	615599	C3810080	OMIM	1	169	11536	604912
HP:0002465	HP:0002465	Poor speech	0	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	87	11540	602955
HP:0002465	HP:0002465	Poor speech	0	TBCK CL E G H	93627	616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	616900	C4225161	OMIM	1	482	28261	616899
HP:0002465	HP:0002465	Poor speech	0	TMEM106B CL E G H	54664	275864				ORPHA	1	87	22407	613413
HP:0002465	HP:0002465	Poor speech	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	774	25751	614138
HP:0002465	HP:0002465	Poor speech	0	TREM2 CL E G H	54209	275864				ORPHA	1	110	17761	605086
HP:0002465	HP:0002465	Poor speech	0	TRIO CL E G H	7204	617061	Mental retardation, autosomal dominant 44	617061	C4310740	OMIM	1	930	12303	601893
HP:0002465	HP:0002465	Poor speech	0	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	98	23141	611023
HP:0002465	HP:0002465	Poor speech	0	TUBB3 CL E G H	10381	300570				ORPHA	1	247	20772	602661
HP:0002465	HP:0002465	Poor speech	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	219	20774	602662
HP:0002465	HP:0002465	Poor speech	0	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	207	12472	312180
HP:0002465	HP:0002465	Poor speech	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1166	26582	612636
HP:0002465	HP:0002465	Poor speech	0	UQCC2 CL E G H	84300	615824	Mitochondrial complex III deficiency, nuclear type 7	615824	C4014408	OMIM	1	49	21237	614461
HP:0002465	HP:0002465	Poor speech	0	VCP CL E G H	7415	275864				ORPHA	1	473	12666	601023
HP:0002465	HP:0002465	Poor speech	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0002465	HP:0002465	Poor speech	0	VPS11 CL E G H	55823	466934				ORPHA	1	139	14583	608549
HP:0002465	HP:0002465	Poor speech	0	VPS11 CL E G H	55823	616683	Leukodystrophy, hypomyelinating, 12	616683	C4225247	OMIM	1	139	14583	608549
HP:0002465	HP:0002465	Poor speech	0	WDR45 CL E G H	11152	329284				ORPHA	1	504	28912	300526
HP:0002465	HP:0002465	Poor speech	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	504	28912	300526
HP:0002465	HP:0002465	Poor speech	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	138	25928	616144
HP:0002465	HP:0002465	Poor speech	0	ZNF148 CL E G H	7707	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	617260	C4310644	OMIM	1	63	12933	601897
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002465	HP:0002465	Poor speech	0	ATP6V1B2 CL E G H	526	79499				ORPHA	0	129	854	606939
HP:0002465	HP:0002465	Poor speech	0	FRMD4A CL E G H	55691	466688				ORPHA	0	57	25491	616305