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:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040282 - Frequent	37
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040281 - Very frequent	46
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040282 - Frequent	3
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	HP:0040283 - Occasional	3
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040283 - Occasional	149
HP:0002839	HP:0002839	Urinary bladder sphincter dysfunction	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189