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:0001730	HP:0001730	Progressive hearing impairment	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20		123
HP:0001730	HP:0001730	Progressive hearing impairment	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001730	HP:0001730	Progressive hearing impairment	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0001730	HP:0001730	Progressive hearing impairment	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0001730	HP:0001730	Progressive hearing impairment	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0001730	HP:0001730	Progressive hearing impairment	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0001730	HP:0001730	Progressive hearing impairment	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0001730	HP:0001730	Progressive hearing impairment	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0001730	HP:0001730	Progressive hearing impairment	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0001730	HP:0001730	Progressive hearing impairment	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		14
HP:0001730	HP:0001730	Progressive hearing impairment	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001730	HP:0001730	Progressive hearing impairment	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0001730	HP:0001730	Progressive hearing impairment	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0001730	HP:0001730	Progressive hearing impairment	0	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25		36
HP:0001730	HP:0001730	Progressive hearing impairment	0	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5		87
HP:0001730	HP:0001730	Progressive 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:0001730	HP:0001730	Progressive hearing impairment	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0001730	HP:0001730	Progressive hearing impairment	0	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70		1
HP:0001730	HP:0001730	Progressive hearing impairment	0	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50		4
HP:0001730	HP:0001730	Progressive hearing impairment	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0001730	HP:0001730	Progressive hearing impairment	0	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0001730	HP:0001730	Progressive hearing impairment	0	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4		227
HP:0001730	HP:0001730	Progressive hearing impairment	0	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30		168
HP:0001730	HP:0001730	Progressive hearing impairment	0	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22		179
HP:0001730	HP:0001730	Progressive hearing impairment	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001730	HP:0001730	Progressive hearing impairment	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001730	HP:0001730	Progressive hearing impairment	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0001730	HP:0001730	Progressive hearing impairment	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001730	HP:0001730	Progressive hearing impairment	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0001730	HP:0001730	Progressive hearing impairment	0	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41		23
HP:0001730	HP:0001730	Progressive hearing impairment	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0001730	HP:0001730	Progressive hearing impairment	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001730	HP:0001730	Progressive hearing impairment	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0001730	HP:0001730	Progressive hearing impairment	0	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0001730	HP:0001730	Progressive hearing impairment	0	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91	.	29
HP:0001730	HP:0001730	Progressive hearing impairment	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001730	HP:0001730	Progressive hearing impairment	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0001730	HP:0001730	Progressive hearing impairment	0	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76		21
HP:0001730	HP:0001730	Progressive hearing impairment	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65	.	271
HP:0001730	HP:0001730	Progressive hearing impairment	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0001730	HP:0001730	Progressive hearing impairment	0	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79		32
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001730	HP:0001730	Progressive hearing impairment	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional	113
HP:0001730	HP:0001730	Progressive hearing impairment	0	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6		389
HP:0001730	HP:0001730	Progressive hearing impairment	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent	18
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate	83
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.	199
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.	56
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25		36
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5	.	87
HP:0001730	HP:0000408	Progressive 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:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70		1
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50	.	4
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.	134
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4	.	227
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30	.	168
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.	179
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.	23
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.	40
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76	.	21
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	32
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001730	HP:0000408	Progressive sensorineural hearing impairment	1	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.	389