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:0012714	HP:0012714	Severe hearing impairment	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0012714	HP:0012714	Severe hearing impairment	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0012714	HP:0012714	Severe hearing impairment	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0012714	HP:0012714	Severe hearing impairment	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0012714	HP:0012714	Severe hearing impairment	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0012714	HP:0012714	Severe hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012714	HP:0012714	Severe hearing impairment	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012714	HP:0012714	Severe hearing impairment	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0012714	HP:0012714	Severe hearing impairment	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0012714	HP:0012714	Severe hearing impairment	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0012714	HP:0012714	Severe hearing impairment	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0012714	HP:0012714	Severe hearing impairment	0	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28		154
HP:0012714	HP:0012714	Severe hearing impairment	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent	5
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0012714	HP:0012717	Severe conductive hearing impairment	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.	154
HP:0012714	HP:0008625	Severe sensorineural hearing impairment	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47