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:0002792	HP:0002792	Reduced vital capacity	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0002792	HP:0002792	Reduced vital capacity	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0002792	HP:0002792	Reduced vital capacity	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0002792	HP:0002792	Reduced vital capacity	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0002792	HP:0002792	Reduced vital capacity	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0002792	HP:0002792	Reduced vital capacity	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0002792	HP:0002792	Reduced vital capacity	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0002792	HP:0002792	Reduced vital capacity	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0002792	HP:0002792	Reduced vital capacity	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0002792	HP:0002792	Reduced vital capacity	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0002792	HP:0002792	Reduced vital capacity	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0002792	HP:0002792	Reduced vital capacity	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0002792	HP:0002792	Reduced vital capacity	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0002792	HP:0002792	Reduced vital capacity	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0002792	HP:0002792	Reduced vital capacity	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0002792	HP:0002792	Reduced vital capacity	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0002792	HP:0002792	Reduced vital capacity	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0002792	HP:0002792	Reduced vital capacity	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0002792	HP:0002792	Reduced vital capacity	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional	75
HP:0002792	HP:0002792	Reduced vital capacity	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0002792	HP:0002792	Reduced vital capacity	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional	217
HP:0002792	HP:0002792	Reduced vital capacity	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0002792	HP:0002792	Reduced vital capacity	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0002792	HP:0002792	Reduced vital capacity	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0002792	HP:0002792	Reduced vital capacity	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0002792	HP:0002792	Reduced vital capacity	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0002792	HP:0002792	Reduced vital capacity	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0002792	HP:0002792	Reduced vital capacity	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0002792	HP:0002792	Reduced vital capacity	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0002792	HP:0002792	Reduced vital capacity	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0002792	HP:0002792	Reduced vital capacity	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0002792	HP:0002792	Reduced vital capacity	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0002792	HP:0002792	Reduced vital capacity	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040284 - Very rare	63