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:0031705	HP:0031705	Compensatory head posture	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	94
HP:0031705	HP:0031705	Compensatory head posture	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	58
HP:0031705	HP:0031705	Compensatory head posture	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	129
HP:0031705	HP:0031705	Compensatory head posture	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0031705	HP:0031705	Compensatory head posture	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	39
HP:0031705	HP:0031705	Compensatory head posture	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	5
HP:0031705	HP:0031705	Compensatory head posture	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	124
HP:0031705	HP:0031705	Compensatory head posture	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	4
HP:0031705	HP:0031705	Compensatory head posture	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	63
HP:0031705	HP:0031705	Compensatory head posture	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1		93
HP:0031705	HP:0031705	Compensatory head posture	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	54
HP:0031705	HP:0031705	Compensatory head posture	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	42
HP:0031705	HP:0031705	Compensatory head posture	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	126
HP:0031705	HP:0031705	Compensatory head posture	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	107
HP:0031705	HP:0031705	Compensatory head posture	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	32
HP:0031705	HP:0031705	Compensatory head posture	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	66
HP:0031705	HP:0031705	Compensatory head posture	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional	104
HP:0031705	HP:0031705	Compensatory head posture	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0031705	HP:0031705	Compensatory head posture	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0031705	HP:0031709	Compensatory head tilt to the right shoulder	1	CL E G H
HP:0031705	HP:0031708	Compensatory face turn to the left	1	CL E G H
HP:0031705	HP:0031707	Compensatory face turn to the right	1	CL E G H
HP:0031705	HP:0031706	Compensatory chin depression	1	CL E G H
HP:0031705	HP:0031710	Compensatory head tilt to the left shoulder	1	CL E G H
HP:0031705	HP:0001477	Compensatory chin elevation	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0031705	HP:0001477	Compensatory chin elevation	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.	93
HP:0031705	HP:0001477	Compensatory chin elevation	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.	64
HP:0031705	HP:0001477	Compensatory chin elevation	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis