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:0000410	HP:0000410	Mixed hearing impairment	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0000410	HP:0000410	Mixed hearing impairment	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000410	HP:0000410	Mixed hearing impairment	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.	2
HP:0000410	HP:0000410	Mixed hearing impairment	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0000410	HP:0000410	Mixed hearing impairment	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000410	HP:0000410	Mixed hearing impairment	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0000410	HP:0000410	Mixed hearing impairment	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0000410	HP:0000410	Mixed hearing impairment	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0000410	HP:0000410	Mixed hearing impairment	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000410	HP:0000410	Mixed hearing impairment	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000410	HP:0000410	Mixed hearing impairment	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000410	HP:0000410	Mixed hearing impairment	0	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88		1
HP:0000410	HP:0000410	Mixed hearing impairment	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0000410	HP:0000410	Mixed hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000410	HP:0000410	Mixed hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000410	HP:0000410	Mixed hearing impairment	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000410	HP:0000410	Mixed hearing impairment	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000410	HP:0000410	Mixed hearing impairment	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000410	HP:0000410	Mixed hearing impairment	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000410	HP:0000410	Mixed hearing impairment	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare	13
HP:0000410	HP:0000410	Mixed hearing impairment	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0000410	HP:0000410	Mixed hearing impairment	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000410	HP:0000410	Mixed hearing impairment	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000410	HP:0000410	Mixed hearing impairment	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000410	HP:0000410	Mixed hearing impairment	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0000410	HP:0000410	Mixed hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0000410	HP:0000410	Mixed hearing impairment	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0000410	HP:0000410	Mixed hearing impairment	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000410	HP:0000410	Mixed hearing impairment	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000410	HP:0000410	Mixed hearing impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0000410	HP:0000410	Mixed hearing impairment	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0000410	HP:0000410	Mixed hearing impairment	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0000410	HP:0000410	Mixed hearing impairment	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000410	HP:0000410	Mixed hearing impairment	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000410	HP:0000410	Mixed hearing impairment	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0000410	HP:0000410	Mixed hearing impairment	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000410	HP:0000410	Mixed hearing impairment	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0000410	HP:0000410	Mixed hearing impairment	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50