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:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0040172	HP:0040172	Abnormality of occipitofrontalis muscle	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0040172	HP:3000004	Abnormality of frontalis muscle belly	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0040172	HP:0004661	Frontalis muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0040172	HP:0004661	Frontalis muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0040172	HP:0004661	Frontalis muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0040172	HP:0004661	Frontalis muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0040172	HP:0004661	Frontalis muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0040172	HP:0004661	Frontalis muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0040172	HP:0004661	Frontalis muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0040172	HP:0004661	Frontalis muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0040172	HP:0004661	Frontalis muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0040172	HP:0004661	Frontalis muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2