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:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC	.	530
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	515
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.	13
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	4
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	17
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	172
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	15
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	92
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	8
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	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:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	148
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.	730
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	3
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	14
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63		78
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.	91
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.	352
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA	.	40
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC	.	40
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	9
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.	19
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	5
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	6
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	34
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.	173
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA	.	777
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional	10
HP:0008527	HP:0008527	Congenital sensorineural hearing impairment	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent	389