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:0007502	HP:0007502	Follicular hyperkeratosis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.	63
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	63
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent	13
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.	27
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	3
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	65
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	10
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent	4
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2	.	2
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent	4
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0007502	HP:0007502	Follicular hyperkeratosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71