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:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44		2
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12		5
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12		636
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9		46
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15		40
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39		39
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49		61
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0011474	HP:0011474	Childhood onset sensorineural hearing impairment	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44	.	2
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12	.	5
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12	.	636
HP:0011474	HP:0008596	Postlingual sensorineural hearing impairment	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15		40
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39	.	39
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49	.	61
HP:0011474	HP:0008610	Infantile sensorineural hearing impairment	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent	96
HP:0011474	HP:0008610	Infantile sensorineural hearing impairment	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104	.	1
HP:0011474	HP:0008610	Infantile sensorineural hearing impairment	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0011474	HP:0008610	Infantile sensorineural hearing impairment	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0011474	HP:0008596	Postlingual sensorineural hearing impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0011474	HP:0008596	Postlingual sensorineural hearing impairment	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0011474	HP:0000399	Prelingual sensorineural hearing impairment	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0011474	HP:0008610	Infantile sensorineural hearing impairment	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103