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:0200041	HP:0200041	Skin erosion	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0200041	HP:0200041	Skin erosion	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0200041	HP:0200041	Skin erosion	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0200041	HP:0200041	Skin erosion	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0200041	HP:0200041	Skin erosion	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0200041	HP:0200041	Skin erosion	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional	263
HP:0200041	HP:0200041	Skin erosion	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0200041	HP:0200041	Skin erosion	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0200041	HP:0200041	Skin erosion	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0200041	HP:0200041	Skin erosion	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0200041	HP:0200041	Skin erosion	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0200041	HP:0200041	Skin erosion	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0200041	HP:0200041	Skin erosion	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0200041	HP:0200041	Skin erosion	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0200041	HP:0200041	Skin erosion	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0200041	HP:0200041	Skin erosion	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0200041	HP:0200041	Skin erosion	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0200041	HP:0200041	Skin erosion	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	173
HP:0200041	HP:0200041	Skin erosion	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0200041	HP:0200041	Skin erosion	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0200041	HP:0200041	Skin erosion	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0200041	HP:0200041	Skin erosion	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0200041	HP:0200041	Skin erosion	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0200041	HP:0200041	Skin erosion	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0200041	HP:0200041	Skin erosion	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0200041	HP:0200041	Skin erosion	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41
HP:0200041	HP:0200041	Skin erosion	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	44
HP:0200041	HP:0200041	Skin erosion	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0200041	HP:0200041	Skin erosion	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0200041	HP:0200041	Skin erosion	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0200041	HP:0200041	Skin erosion	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83