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:0002006	HP:0002006	Facial cleft	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0002006	HP:0002006	Facial cleft	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0002006	HP:0002006	Facial cleft	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0002006	HP:0002006	Facial cleft	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.	3
HP:0002006	HP:0002006	Facial cleft	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002006	HP:0002006	Facial cleft	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002006	HP:0002006	Facial cleft	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002006	HP:0002006	Facial cleft	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	209
HP:0002006	HP:0002006	Facial cleft	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	137
HP:0002006	HP:0002006	Facial cleft	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002006	HP:0002006	Facial cleft	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002006	HP:0002006	Facial cleft	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0002006	HP:0002006	Facial cleft	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0002006	HP:0002006	Facial cleft	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0002006	HP:0002006	Facial cleft	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002006	HP:0002006	Facial cleft	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002006	HP:0002006	Facial cleft	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.	6
HP:0002006	HP:0002006	Facial cleft	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0002006	HP:0002006	Facial cleft	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002006	HP:0100629	Midline facial cleft	1	CL E G H
HP:0002006	HP:0031571	Paramedian facial cleft	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0002006	HP:0100731	Transverse facial cleft	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002006	HP:0031574	Orbital cleft	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0002006	HP:0031578	Tessier number 6 facial cleft	2	CL E G H
HP:0002006	HP:0031584	Tessier number 12 facial cleft	2	CL E G H
HP:0002006	HP:0031577	Tessier number 5 facial cleft	2	CL E G H
HP:0002006	HP:0031583	Tessier number 11 facial cleft	2	CL E G H
HP:0002006	HP:0031575	Tessier number 3 facial cleft	2	CL E G H
HP:0002006	HP:0031582	Tessier number 10 facial cleft	2	CL E G H
HP:0002006	HP:0031573	Tessier number 2 facial cleft	2	CL E G H
HP:0002006	HP:0031581	Tessier number 9 facial cleft	2	CL E G H
HP:0002006	HP:0031572	Tessier number 1 facial cleft	2	CL E G H
HP:0002006	HP:0031580	Tessier number 8 facial cleft	2	CL E G H
HP:0002006	HP:0031587	Tessier number 30 facial cleft	2	CL E G H
HP:0002006	HP:0031570	Tessier number 0 facial cleft	2	CL E G H
HP:0002006	HP:0031579	Tessier number 7 facial cleft	2	CL E G H
HP:0002006	HP:0031586	Tessier number 14 facial cleft	2	CL E G H
HP:0002006	HP:0031585	Tessier number 13 facial cleft	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0002006	HP:0031576	Tessier number 4 facial cleft	2	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6