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:0010529	HP:0010529	Echolalia	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0010529	HP:0010529	Echolalia	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0010529	HP:0010529	Echolalia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1499	218	604539
HP:0010529	HP:0010529	Echolalia	0	C9orf72 CL E G H	203228	275864				ORPHA	1	177	28337	614260
HP:0010529	HP:0010529	Echolalia	0	CHMP2B CL E G H	25978	275864				ORPHA	1	160	24537	609512
HP:0010529	HP:0010529	Echolalia	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	168	26877	616174
HP:0010529	HP:0010529	Echolalia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	2428	2197	120150
HP:0010529	HP:0010529	Echolalia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1759	2198	120160
HP:0010529	HP:0010529	Echolalia	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1923	24650	607001
HP:0010529	HP:0010529	Echolalia	0	FGFR1 CL E G H	2260	2396				ORPHA	1	936	3688	136350
HP:0010529	HP:0010529	Echolalia	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	2185	27310	607273
HP:0010529	HP:0010529	Echolalia	0	GRN CL E G H	2896	275864				ORPHA	1	594	4601	138945
HP:0010529	HP:0010529	Echolalia	0	KRAS CL E G H	3845	2396				ORPHA	1	480	6407	190070
HP:0010529	HP:0010529	Echolalia	0	MAPT CL E G H	4137	275864				ORPHA	1	581	6893	157140
HP:0010529	HP:0010529	Echolalia	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	581	6893	157140
HP:0010529	HP:0010529	Echolalia	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0010529	HP:0010529	Echolalia	0	PSEN1 CL E G H	5663	275864				ORPHA	1	501	9508	104311
HP:0010529	HP:0010529	Echolalia	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	501	9508	104311
HP:0010529	HP:0010529	Echolalia	0	RAI1 CL E G H	10743	1713				ORPHA	1	1608	9834	607642
HP:0010529	HP:0010529	Echolalia	0	SLITRK1 CL E G H	114798	137580	Tourette Syndrome	137580	C0040517	OMIM	1	202	20297	609678
HP:0010529	HP:0010529	Echolalia	0	SMARCA2 CL E G H	6595	3051				ORPHA	1	1130	11098	600014
HP:0010529	HP:0010529	Echolalia	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	677	11280	601530
HP:0010529	HP:0010529	Echolalia	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	1069	11634	602272
HP:0010529	HP:0010529	Echolalia	0	TMEM106B CL E G H	54664	275864				ORPHA	1	128	22407	613413
HP:0010529	HP:0010529	Echolalia	0	TREM2 CL E G H	54209	275864				ORPHA	1	154	17761	605086
HP:0010529	HP:0010529	Echolalia	0	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	225	12472	312180
HP:0010529	HP:0010529	Echolalia	0	VCP CL E G H	7415	275864				ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010529	HP:0010529	Echolalia	0	AMER1 CL E G H	139285	2780	Hydronephrosis congenital			ORPHA	0	450	26837	300647
HP:0010529	HP:0010529	Echolalia	0	COX7B CL E G H	1349	2556				ORPHA	0	181	2291	300885
HP:0010529	HP:0010529	Echolalia	0	HCCS CL E G H	3052	2556				ORPHA	0	234	4837	300056
HP:0010529	HP:0010529	Echolalia	0	NDUFB11 CL E G H	54539	2556				ORPHA	0	209	20372	300403
HP:0010529	HP:0010529	Echolalia	0	PUF60 CL E G H	22827	508488				ORPHA	0	228	17042	604819
HP:0010529	HP:0010529	Echolalia	0	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	0	298	20197	605881