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:0010747	HP:0010747	Medial flaring of the eyebrow	0	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1	HP:0040281 - Very frequent	61
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0010747	HP:0010747	Medial flaring of the eyebrow	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60