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:0009723	HP:0009723	Abnormality of the subungual region	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0009723	HP:0009723	Abnormality of the subungual region	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0009723	HP:0009723	Abnormality of the subungual region	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0009723	HP:0009723	Abnormality of the subungual region	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0009723	HP:0009723	Abnormality of the subungual region	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0009723	HP:0009723	Abnormality of the subungual region	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009723	HP:0009723	Abnormality of the subungual region	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0009723	HP:0009723	Abnormality of the subungual region	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0009723	HP:0009723	Abnormality of the subungual region	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0009723	HP:0009723	Abnormality of the subungual region	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0009723	HP:0009723	Abnormality of the subungual region	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0009723	HP:0009723	Abnormality of the subungual region	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009723	HP:0009723	Abnormality of the subungual region	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009723	HP:0008410	Subungual hyperkeratotic fragments	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent	86
HP:0009723	HP:0008410	Subungual hyperkeratotic fragments	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040282 - Frequent	33
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris	.	33
HP:0009723	HP:0009724	Subungual fibromas	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0009723	HP:0008392	Subungual hyperkeratosis	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.	151
HP:0009723	HP:0009724	Subungual fibromas	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009723	HP:0009724	Subungual fibromas	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738