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:0025112	HP:0025112	Sound sensitivity	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0025112	HP:0025112	Sound sensitivity	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0025112	HP:0025112	Sound sensitivity	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0025112	HP:0025112	Sound sensitivity	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0025112	HP:0025112	Sound sensitivity	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1		3
HP:0025112	HP:0025112	Sound sensitivity	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0025112	HP:0025112	Sound sensitivity	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0025112	HP:0025112	Sound sensitivity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0025112	HP:0025112	Sound sensitivity	0	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1		13
HP:0025112	HP:0025112	Sound sensitivity	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0025112	HP:0025112	Sound sensitivity	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0025112	HP:0025112	Sound sensitivity	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0025112	HP:0025112	Sound sensitivity	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0025112	HP:0025112	Sound sensitivity	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0025112	HP:0025112	Sound sensitivity	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0025112	HP:0025112	Sound sensitivity	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0025112	HP:0025112	Sound sensitivity	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0025112	HP:0025112	Sound sensitivity	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0025112	HP:0025112	Sound sensitivity	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0025112	HP:0025112	Sound sensitivity	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0025112	HP:0025112	Sound sensitivity	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6		63
HP:0025112	HP:0025112	Sound sensitivity	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0025112	HP:0025112	Sound sensitivity	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025112	HP:0025112	Sound sensitivity	0	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1		7
HP:0025112	HP:0025112	Sound sensitivity	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0025112	HP:0025112	Sound sensitivity	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025112	HP:0025113	Misophonia	1	CL E G H
HP:0025112	HP:0010780	Hyperacusis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0025112	HP:0010780	Hyperacusis	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0025112	HP:0002183	Phonophobia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0025112	HP:0010780	Hyperacusis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0025112	HP:0010780	Hyperacusis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0025112	HP:0002183	Phonophobia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0025112	HP:0010780	Hyperacusis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0025112	HP:0002183	Phonophobia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0025112	HP:0002183	Phonophobia	1	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	13
HP:0025112	HP:0002183	Phonophobia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0025112	HP:0010780	Hyperacusis	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0025112	HP:0010780	Hyperacusis	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0025112	HP:0010780	Hyperacusis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0002183	Phonophobia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0002183	Phonophobia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0002183	Phonophobia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0025112	HP:0010780	Hyperacusis	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0025112	HP:0002183	Phonophobia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0002183	Phonophobia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0025112	HP:0010780	Hyperacusis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0025112	HP:0002183	Phonophobia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0025112	HP:0010780	Hyperacusis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0025112	HP:0002183	Phonophobia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0025112	HP:0010780	Hyperacusis	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0025112	HP:0010780	Hyperacusis	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0025112	HP:0010780	Hyperacusis	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0025112	HP:0002183	Phonophobia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0025112	HP:0002183	Phonophobia	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040282 - Frequent	63
HP:0025112	HP:0002183	Phonophobia	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0025112	HP:0002183	Phonophobia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0002183	Phonophobia	1	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	7
HP:0025112	HP:0010780	Hyperacusis	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0025112	HP:0002183	Phonophobia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0025112	HP:0010780	Hyperacusis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent