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:0200037	HP:0200037	Skin vesicle	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040283 - Occasional	86
HP:0200037	HP:0200037	Skin vesicle	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0200037	HP:0200037	Skin vesicle	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional	263
HP:0200037	HP:0200037	Skin vesicle	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0200037	HP:0200037	Skin vesicle	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0200037	HP:0200037	Skin vesicle	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0200037	HP:0200037	Skin vesicle	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0200037	HP:0200037	Skin vesicle	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0200037	HP:0200037	Skin vesicle	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0200037	HP:0200037	Skin vesicle	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0200037	HP:0200037	Skin vesicle	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0200037	HP:0200037	Skin vesicle	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0200037	HP:0200037	Skin vesicle	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0200037	HP:0200037	Skin vesicle	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0200037	HP:0200037	Skin vesicle	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0200037	HP:0200037	Skin vesicle	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0200037	HP:0200037	Skin vesicle	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41
HP:0200037	HP:0200037	Skin vesicle	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0200037	HP:0200037	Skin vesicle	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0200037	HP:0200037	Skin vesicle	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0200037	HP:0200037	Skin vesicle	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040283 - Occasional	110
HP:0200037	HP:0200037	Skin vesicle	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0200037	HP:0200037	Skin vesicle	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0200037	HP:0200037	Skin vesicle	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0200037	HP:0200037	Skin vesicle	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0200037	HP:0200037	Skin vesicle	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0200037	HP:0200037	Skin vesicle	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0200037	HP:0031448	Herpetiform vesicles	1	CL E G H