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:0001808	HP:0001808	Fragile nails	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0001808	HP:0001808	Fragile nails	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001808	HP:0001808	Fragile nails	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	HP:0040284 - Very rare	1
HP:0001808	HP:0001808	Fragile nails	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001808	HP:0001808	Fragile nails	0	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040281 - Very frequent	263
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0001808	HP:0001808	Fragile nails	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0001808	HP:0001808	Fragile nails	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	HP:0040283 - Occasional	747
HP:0001808	HP:0001808	Fragile nails	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001808	HP:0001808	Fragile nails	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001808	HP:0001808	Fragile nails	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0001808	HP:0001808	Fragile nails	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001808	HP:0001808	Fragile nails	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional	33
HP:0001808	HP:0001808	Fragile nails	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0001808	HP:0001808	Fragile nails	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001808	HP:0001808	Fragile nails	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001808	HP:0001808	Fragile nails	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001808	HP:0001808	Fragile nails	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001808	HP:0001808	Fragile nails	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0001808	HP:0001808	Fragile nails	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0001808	HP:0001808	Fragile nails	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0001808	HP:0001808	Fragile nails	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001808	HP:0001808	Fragile nails	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001808	HP:0001808	Fragile nails	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0001808	HP:0001808	Fragile nails	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0001808	HP:0001808	Fragile nails	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001808	HP:0001808	Fragile nails	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0001808	HP:0001808	Fragile nails	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001808	HP:0001808	Fragile nails	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0001808	HP:0001808	Fragile nails	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease	.	15
HP:0001808	HP:0001808	Fragile nails	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0001808	HP:0001808	Fragile nails	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001808	HP:0001808	Fragile nails	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171