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:0010547	HP:0010547	Muscle flaccidity	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0010547	HP:0010547	Muscle flaccidity	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0010547	HP:0010547	Muscle flaccidity	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0010547	HP:0010547	Muscle flaccidity	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0010547	HP:0010547	Muscle flaccidity	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0010547	HP:0010547	Muscle flaccidity	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0010547	HP:0010547	Muscle flaccidity	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0010547	HP:0010547	Muscle flaccidity	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0010547	HP:0010547	Muscle flaccidity	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0010547	HP:0010547	Muscle flaccidity	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0010547	HP:0010547	Muscle flaccidity	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0010547	HP:0010547	Muscle flaccidity	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent	211
HP:0010547	HP:0010547	Muscle flaccidity	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0010547	HP:0010547	Muscle flaccidity	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0010547	HP:0010547	Muscle flaccidity	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0010547	HP:0010547	Muscle flaccidity	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0010547	HP:0010547	Muscle flaccidity	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0010547	HP:0010547	Muscle flaccidity	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0010547	HP:0010547	Muscle flaccidity	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0010547	HP:0010547	Muscle flaccidity	0	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2		263
HP:0010547	HP:0010547	Muscle flaccidity	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0010547	HP:0010547	Muscle flaccidity	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0010547	HP:0003752	Episodic flaccid weakness	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0010547	HP:0003752	Episodic flaccid weakness	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0010547	HP:0003752	Episodic flaccid weakness	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0010547	HP:0003752	Episodic flaccid weakness	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0010547	HP:0003752	Episodic flaccid weakness	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0010547	HP:0003752	Episodic flaccid weakness	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0010547	HP:0003752	Episodic flaccid weakness	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040281 - Very frequent	193
HP:0010547	HP:0003752	Episodic flaccid weakness	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040281 - Very frequent	128
HP:0010547	HP:0003752	Episodic flaccid weakness	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0010547	HP:0003752	Episodic flaccid weakness	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0010547	HP:0003752	Episodic flaccid weakness	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0010547	HP:0003752	Episodic flaccid weakness	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	263
HP:0010547	HP:0003752	Episodic flaccid weakness	1	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2	.	263