Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100643	HP:0100643	Abnormality of nail color	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	223	4288	604418
HP:0100643	HP:0100643	Abnormality of nail color	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	214	4288	604418
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	68	6423	148067
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	65	6423	148067
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	59	6427	148069
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	54	6427	148069
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	78	6443	148041
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	77	6443	148041
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	39	6444	148042
HP:0100643	HP:0100643	Abnormality of nail color	0	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	38	6444	148042
HP:0100643	HP:0100643	Abnormality of nail color	0	PEX1 CL E G H	5189	3220		ORPHA	1	951	8850	602136
HP:0100643	HP:0100643	Abnormality of nail color	0	PEX1 CL E G H	5189	3220		ORPHA	1	793	8850	602136
HP:0100643	HP:0100643	Abnormality of nail color	0	PEX6 CL E G H	5190	3220		ORPHA	1	855	8859	601498
HP:0100643	HP:0100643	Abnormality of nail color	0	PEX6 CL E G H	5190	3220		ORPHA	1	645	8859	601498
HP:0100643	HP:0011367	Yellow nails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	214	4288	604418
HP:0100643	HP:0001820	Leukonychia	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	214	4288	604418
HP:0100643	HP:0100644	Melanonychia	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	223	4288	604418
HP:0100643	HP:0100644	Melanonychia	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	214	4288	604418
HP:0100643	HP:0001820	Leukonychia	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	223	4288	604418
HP:0100643	HP:0011367	Yellow nails	1	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome	ORPHA	1	223	4288	604418
HP:0100643	HP:0011367	Yellow nails	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	65	6423	148067
HP:0100643	HP:0001820	Leukonychia	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	65	6423	148067
HP:0100643	HP:0100644	Melanonychia	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	68	6423	148067
HP:0100643	HP:0100644	Melanonychia	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	65	6423	148067
HP:0100643	HP:0011367	Yellow nails	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	68	6423	148067
HP:0100643	HP:0001820	Leukonychia	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	68	6423	148067
HP:0100643	HP:0001820	Leukonychia	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	54	6427	148069
HP:0100643	HP:0011367	Yellow nails	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	54	6427	148069
HP:0100643	HP:0100644	Melanonychia	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	59	6427	148069
HP:0100643	HP:0100644	Melanonychia	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	54	6427	148069
HP:0100643	HP:0001820	Leukonychia	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	59	6427	148069
HP:0100643	HP:0011367	Yellow nails	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	59	6427	148069
HP:0100643	HP:0001820	Leukonychia	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	77	6443	148041
HP:0100643	HP:0011367	Yellow nails	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	77	6443	148041
HP:0100643	HP:0100644	Melanonychia	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	78	6443	148041
HP:0100643	HP:0100644	Melanonychia	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	77	6443	148041
HP:0100643	HP:0001820	Leukonychia	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	78	6443	148041
HP:0100643	HP:0011367	Yellow nails	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	78	6443	148041
HP:0100643	HP:0001820	Leukonychia	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	38	6444	148042
HP:0100643	HP:0011367	Yellow nails	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	38	6444	148042
HP:0100643	HP:0100644	Melanonychia	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	39	6444	148042
HP:0100643	HP:0100644	Melanonychia	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	38	6444	148042
HP:0100643	HP:0001820	Leukonychia	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	39	6444	148042
HP:0100643	HP:0011367	Yellow nails	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome	ORPHA	1	39	6444	148042
HP:0100643	HP:0001820	Leukonychia	1	PEX1 CL E G H	5189	3220		ORPHA	1	793	8850	602136
HP:0100643	HP:0011367	Yellow nails	1	PEX1 CL E G H	5189	3220		ORPHA	1	793	8850	602136
HP:0100643	HP:0100644	Melanonychia	1	PEX1 CL E G H	5189	3220		ORPHA	1	951	8850	602136
HP:0100643	HP:0100644	Melanonychia	1	PEX1 CL E G H	5189	3220		ORPHA	1	793	8850	602136
HP:0100643	HP:0001820	Leukonychia	1	PEX1 CL E G H	5189	3220		ORPHA	1	951	8850	602136
HP:0100643	HP:0011367	Yellow nails	1	PEX1 CL E G H	5189	3220		ORPHA	1	951	8850	602136
HP:0100643	HP:0011367	Yellow nails	1	PEX6 CL E G H	5190	3220		ORPHA	1	645	8859	601498
HP:0100643	HP:0001820	Leukonychia	1	PEX6 CL E G H	5190	3220		ORPHA	1	645	8859	601498
HP:0100643	HP:0100644	Melanonychia	1	PEX6 CL E G H	5190	3220		ORPHA	1	855	8859	601498
HP:0100643	HP:0100644	Melanonychia	1	PEX6 CL E G H	5190	3220		ORPHA	1	645	8859	601498
HP:0100643	HP:0001820	Leukonychia	1	PEX6 CL E G H	5190	3220		ORPHA	1	855	8859	601498
HP:0100643	HP:0011367	Yellow nails	1	PEX6 CL E G H	5190	3220		ORPHA	1	855	8859	601498
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100643	HP:0100643	Abnormality of nail color	0	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	201	34016	601428
HP:0100643	HP:0100643	Abnormality of nail color	0	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	76	34016	601428
HP:0100643	HP:0001820	Leukonychia	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	76	34016	601428
HP:0100643	HP:0011367	Yellow nails	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	76	34016	601428
HP:0100643	HP:0100644	Melanonychia	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	201	34016	601428
HP:0100643	HP:0100644	Melanonychia	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	76	34016	601428
HP:0100643	HP:0001820	Leukonychia	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	201	34016	601428
HP:0100643	HP:0011367	Yellow nails	1	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome	ORPHA	0	201	34016	601428