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:0002486	HP:0002486	Myotonia	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0002486	HP:0002486	Myotonia	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0002486	HP:0002486	Myotonia	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0002486	HP:0002486	Myotonia	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0002486	HP:0002486	Myotonia	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0002486	HP:0002486	Myotonia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002486	HP:0002486	Myotonia	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0002486	HP:0002486	Myotonia	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0002486	HP:0002486	Myotonia	0	CLCN1 CL E G H	1180	2019	ORPHA:614	Thomsen and Becker disease	HP:0040281 - Very frequent	133
HP:0002486	HP:0002486	Myotonia	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0002486	HP:0002486	Myotonia	0	CNBP CL E G H	7555	13164	ORPHA:606	Proximal myotonic myopathy	HP:0040281 - Very frequent	1
HP:0002486	HP:0002486	Myotonia	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002486	HP:0002486	Myotonia	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0002486	HP:0002486	Myotonia	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1		103
HP:0002486	HP:0002486	Myotonia	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0002486	HP:0002486	Myotonia	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0002486	HP:0002486	Myotonia	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0002486	HP:0002486	Myotonia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0002486	HP:0002486	Myotonia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002486	HP:0002486	Myotonia	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0002486	HP:0002486	Myotonia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002486	HP:0002486	Myotonia	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0002486	HP:0002486	Myotonia	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0002486	HP:0002486	Myotonia	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040281 - Very frequent	64
HP:0002486	HP:0002486	Myotonia	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation		53
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040281 - Very frequent	263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans		263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040281 - Very frequent	263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg		263
HP:0002486	HP:0002486	Myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0002486	Myotonia	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0002486	HP:0002486	Myotonia	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0002486	HP:0002486	Myotonia	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	1129
HP:0002486	HP:0002486	Myotonia	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	508
HP:0002486	HP:0002486	Myotonia	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	171
HP:0002486	HP:0002486	Myotonia	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0002486	HP:0002486	Myotonia	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	HP:0040283 - Occasional	21
HP:0002486	HP:0002486	Myotonia	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0002486	HP:0012899	Handgrip myotonia	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0002486	HP:0003730	EMG: myotonic runs	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0002486	HP:0010548	Percussion myotonia	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0002486	HP:0010548	Percussion myotonia	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0002486	HP:0010548	Percussion myotonia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002486	HP:0010548	Percussion myotonia	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0002486	HP:0003730	EMG: myotonic runs	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0002486	HP:0012899	Handgrip myotonia	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0002486	HP:0003740	Myotonia with warm-up phenomenon	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0002486	HP:0010548	Percussion myotonia	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0002486	HP:0003740	Myotonia with warm-up phenomenon	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0002486	HP:0003730	EMG: myotonic runs	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0002486	HP:0012899	Handgrip myotonia	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0002486	HP:0010548	Percussion myotonia	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040284 - Very rare	103
HP:0002486	HP:0012899	Handgrip myotonia	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0002486	HP:0010548	Percussion myotonia	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0002486	HP:0010548	Percussion myotonia	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0002486	HP:0012899	Handgrip myotonia	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0002486	HP:0012900	Myotonia of the face	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional	263
HP:0002486	HP:0012903	Myotonia of the upper limb	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040282 - Frequent	263
HP:0002486	HP:0012899	Handgrip myotonia	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional	263
HP:0002486	HP:0003740	Myotonia with warm-up phenomenon	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare	263
HP:0002486	HP:0012902	Myotonia of the lower limb	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040282 - Frequent	263
HP:0002486	HP:0010548	Percussion myotonia	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0002486	HP:0012899	Handgrip myotonia	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0002486	HP:0012900	Myotonia of the face	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0012904	Cold-sensitive myotonia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0010548	Percussion myotonia	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0002486	HP:0012903	Myotonia of the upper limb	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0010548	Percussion myotonia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0011809	Paradoxical myotonia	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0002486	HP:0012899	Handgrip myotonia	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0002486	HP:0012901	Myotonia of the jaw	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0011809	Paradoxical myotonia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0012899	Handgrip myotonia	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0002486	HP:0003730	EMG: myotonic runs	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0002486	HP:0010548	Percussion myotonia	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0002486	HP:0003760	Percussion-induced rapid rolling muscle contractions	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0002486	HP:0003719	Muscle mounding	2	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0002486	HP:0003760	Percussion-induced rapid rolling muscle contractions	2	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0002486	HP:0003719	Muscle mounding	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0002486	HP:0003760	Percussion-induced rapid rolling muscle contractions	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12