Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001660	HP:0001660	Truncus arteriosus	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001660	HP:0001660	Truncus arteriosus	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0001660	HP:0001660	Truncus arteriosus	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0001660	HP:0001660	Truncus arteriosus	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001660	HP:0001660	Truncus arteriosus	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001660	HP:0001660	Truncus arteriosus	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0001660	HP:0001660	Truncus arteriosus	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001660	HP:0001660	Truncus arteriosus	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0001660	HP:0001660	Truncus arteriosus	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0001660	HP:0001660	Truncus arteriosus	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0001660	HP:0001660	Truncus arteriosus	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001660	HP:0001660	Truncus arteriosus	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0001660	HP:0001660	Truncus arteriosus	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0001660	HP:0001660	Truncus arteriosus	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001660	HP:0001660	Truncus arteriosus	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001660	HP:0001660	Truncus arteriosus	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0001660	HP:0001660	Truncus arteriosus	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0001660	HP:0001660	Truncus arteriosus	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040280 - Obligate	3
HP:0001660	HP:0001660	Truncus arteriosus	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040280 - Obligate
HP:0001660	HP:0001660	Truncus arteriosus	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0001660	HP:0001660	Truncus arteriosus	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001660	HP:0001660	Truncus arteriosus	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001660	HP:0001660	Truncus arteriosus	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001660	HP:0001660	Truncus arteriosus	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001660	HP:0001660	Truncus arteriosus	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	HP:0040283 - Occasional	71
HP:0001660	HP:0001660	Truncus arteriosus	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0001660	HP:0001660	Truncus arteriosus	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0001660	HP:0001660	Truncus arteriosus	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001660	HP:0001660	Truncus arteriosus	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001660	HP:0001660	Truncus arteriosus	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001660	HP:0011610	Type IV truncus arteriosus	1	CL E G H
HP:0001660	HP:0011609	Type III truncus arteriosus	1	CL E G H
HP:0001660	HP:0011608	Type II truncus arteriosus	1	CL E G H
HP:0001660	HP:0004384	Type I truncus arteriosus	1	CL E G H