Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012715	HP:0012715	Profound hearing impairment	0	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0012715	HP:0012715	Profound hearing impairment	0	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0012715	HP:0012715	Profound hearing impairment	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0012715	HP:0012715	Profound hearing impairment	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012715	HP:0012715	Profound hearing impairment	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0012715	HP:0012715	Profound hearing impairment	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0012715	HP:0012715	Profound hearing impairment	0	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0012715	HP:0012715	Profound hearing impairment	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0012715	HP:0012715	Profound hearing impairment	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012715	HP:0012715	Profound hearing impairment	0	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0012715	HP:0012715	Profound hearing impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0012715	HP:0012715	Profound hearing impairment	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0012715	HP:0012715	Profound hearing impairment	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48	.	HP:0003577 - Congenital onset	15
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	HP:0003577 - Congenital onset	18
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3	.	HP:0003577 - Congenital onset	387
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.		97
HP:0012715	HP:0011476	Profound sensorineural hearing impairment	1	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2